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Entry
- #180849 - RUBINSTEIN-TAYBI SYNDROME 1; RSTS1
- OMIM
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<span class="h4">#180849</span>
<br />
<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
<a href="/clinicalSynopsis/180849"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS180849"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#clinicalFeatures">Clinical Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#cytogenetics">Cytogenetics</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#diagnosis">Diagnosis</a>
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<a href="#clinicalManagement">Clinical Management</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#nomenclature">Nomenclature</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#history">History</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=RUBINSTEIN-TAYBI SYNDROME" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=22127&Typ=Pat" title="Rubinstein-Taybi syndrome due to CREBBP mutations" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Rubinstein-Taybi syndrome …&nbsp;</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=151&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Rubinstein-Taybi syndrome&nbsp;</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1526/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">&#9658;</span>Orphanet</div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=353277" title="Rubinstein-Taybi syndrome due to CREBBP mutations" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Rubinstein-Taybi syndrome …</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=783" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Rubinstein-Taybi syndrome</a></div>
</div>
<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/d64b4ec3-b273-497e-9190-e0551881fb35/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
<span class="panel-title">
<span class="small">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Animal Models</div>
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</a>
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</span>
</div>
<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.alliancegenome.org/disease/DOID:1933" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
<div><a href="http://www.informatics.jax.org/disease/180849" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
<div><a href="https://wormbase.org/resources/disease/DOID:1933" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
</div>
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</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
<span class="panel-title">
<span class="small">
<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Cell Lines</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://catalog.coriell.org/Search?q=OmimNum:180849" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
</div>
</div>
</div>
</div>
</div>
</div>
<span>
<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
&nbsp;
</span>
</span>
</div>
<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>SNOMEDCT:</strong> 45582004<br />
<strong>ICD10CM:</strong> Q87.2<br />
<strong>ORPHA:</strong> 353277, 783<br />
<strong>DO:</strong> 1933<br />
">ICD+</a>
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
180849
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
RUBINSTEIN-TAYBI SYNDROME 1; RSTS1
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<a id="alternativeTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
RSTS<br />
RUBINSTEIN SYNDROME<br />
BROAD THUMBS AND GREAT TOES, CHARACTERISTIC FACIES, AND MENTAL RETARDATION<br />
BROAD THUMB-HALLUX SYNDROME
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/150?start=-3&limit=10&highlight=150">
16p13.3
</a>
</span>
</td>
<td>
<span class="mim-font">
Rubinstein-Taybi syndrome 1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180849"> 180849 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
CREBBP
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600140"> 600140 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/180849" class="btn btn-warning" role="button"> Clinical Synopsis </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<div class="btn-group">
<a href="/phenotypicSeries/PS180849" class="btn btn-info" role="button"> Phenotypic Series </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
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<span class="sr-only">Toggle Dropdown</span>
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&nbsp;
<div class="btn-group">
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
PheneGene Graphics <span class="caret"></span>
</button>
<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/180849" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/180849" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
</ul>
</div>
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GROWTH </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Height </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Short stature <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422065006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422065006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237836003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237836003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237837007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237837007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E34.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E34.31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R62.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R62.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.43</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349588&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349588</a>, <a href="https://bioportal.bioontology.org/search?q=C0013336&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013336</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003510</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span><br /> -
Average adult male height 153 cm <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1867124&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867124</a>]</span><br /> -
Average adult female height 147 cm <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1867125&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867125</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Weight </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Obesity after puberty <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3277526&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3277526</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Other </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Postnatal growth retardation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859778&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859778</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008897" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008897</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008897" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008897</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Head </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Microcephaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1148757008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1148757008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q02</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/742.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">742.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551563&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551563</a>, <a href="https://bioportal.bioontology.org/search?q=C0025958&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025958</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Microcephaly-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Large anterior fontanel <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1866134&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1866134</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000260</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000260</a>]</span><br /> -
Late closure of fontanel <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/82779003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">82779003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0277828&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0277828</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000270</a>]</span><br /> -
Frontal bossing <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/90145001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">90145001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221354&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221354</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002007</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=3ab8802347404fb5ebf087fa6440bb25" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Frontal_Bossing-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=3ab8802347404fb5ebf087fa6440bb25&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Face </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Low anterior hairline <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1842366&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842366</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000294" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000294</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000294" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000294</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=65b0191a33ac10e07bf69640f20cfc40" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Hairline,Low_Anterior-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=65b0191a33ac10e07bf69640f20cfc40&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Hypoplastic maxilla <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M26.02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M26.02</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.03" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.03</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240310&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240310</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000327" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000327</a>]</span><br /> -
Micrognathia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32958008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32958008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M26.04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M26.04</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.04</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0025990&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025990</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000347</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000347</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9149eccae19753e96defbd69602ab882" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Micrognathia-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=9149eccae19753e96defbd69602ab882&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Retrognathia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/109515000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">109515000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035353&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035353</a>, <a href="https://bioportal.bioontology.org/search?q=C3494422&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3494422</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000278" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000278</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000278" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000278</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=ede3aa3495baae8accf26d8f779302ba" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Retrognathia-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=ede3aa3495baae8accf26d8f779302ba&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Grimacing or unusual smile with almost closing of the eyes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1969314&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1969314</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Ears </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Low-set ears <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95515009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95515009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q17.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q17.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239234&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239234</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000369" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000369</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000369" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000369</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9f0956aaa4fd45c34f94336afbbdc931" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Ear,Low-Set-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=9f0956aaa4fd45c34f94336afbbdc931&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Hearing loss <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/103276001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">103276001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/343087000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">343087000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/15188001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">15188001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H91.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H91.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/389.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/389" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011053&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011053</a>, <a href="https://bioportal.bioontology.org/search?q=C0018772&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018772</a>, <a href="https://bioportal.bioontology.org/search?q=C1384666&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1384666</a>, <a href="https://bioportal.bioontology.org/search?q=C3887873&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3887873</a>, <a href="https://bioportal.bioontology.org/search?q=C2029884&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2029884</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000365" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000365</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000365" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000365</a>]</span><br /> -
Recurrent otitis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2750039&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2750039</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Eyes </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Heavy eyebrows <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853487&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853487</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000574" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000574</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000574" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000574</a>]</span><br /> -
High-arched eyebrows <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1868571&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868571</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002553" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002553</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002553" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002553</a>]</span><br /> -
Long eyelashes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853738&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853738</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000527" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000527</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000527" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000527</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=672968e227f5a1087f52e88a389a22fc" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Eyelashes,Long-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=672968e227f5a1087f52e88a389a22fc&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Ptosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/11934000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">11934000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29696001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29696001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.409" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.409</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.40</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/374.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">374.3</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/374.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">374.30</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0005745&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0005745</a>, <a href="https://bioportal.bioontology.org/search?q=C0033377&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0033377</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000508</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000508</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=76abf29563d4adc64d21da86221224b1" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Ptosis-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=76abf29563d4adc64d21da86221224b1&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Epicanthal folds <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/74824007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">74824007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0678230&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0678230</a>, <a href="https://bioportal.bioontology.org/search?q=C0229249&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0229249</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000286" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000286</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000286" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000286</a>]</span><br /> -
Strabismus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22066006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22066006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.40</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038379&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038379</a>, <a href="https://bioportal.bioontology.org/search?q=C2020541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2020541</a>, <a href="https://bioportal.bioontology.org/search?q=C1423541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1423541</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000486" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000486</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000486" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000486</a>]</span><br /> -
Nasolacrimal duct obstruction <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/314022009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">314022009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/231841004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">231841004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1281931&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1281931</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000579" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000579</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000579" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000579</a>]</span><br /> -
Cataracts <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/193570009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">193570009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/247053007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">247053007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95722004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95722004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H26.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H26.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/366" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">366</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/366.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">366.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0086543&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0086543</a>, <a href="https://bioportal.bioontology.org/search?q=C0521707&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0521707</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000518</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000518</a>]</span><br /> -
Glaucoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/23986001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">23986001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H40-H42" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H40-H42</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H40</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H40.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H40.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/365" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">365</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/365.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">365.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0017601&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0017601</a>, <a href="https://bioportal.bioontology.org/search?q=C0997768&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0997768</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000501" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000501</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000501" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000501</a>]</span><br /> -
Coloboma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/93390002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">93390002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q13.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q13.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009363&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009363</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000589" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000589</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000589" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000589</a>]</span><br /> -
Downslanting palpebral fissures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246800008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246800008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423110&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423110</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000494" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000494</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000494" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000494</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Nose </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Beaked nose <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240538&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240538</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000444" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000444</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000444" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000444</a>]</span><br /> -
Deviated nasal septum <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/126660000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">126660000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/J34.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">J34.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/470" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">470</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0549397&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0549397</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004411" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004411</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004411" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004411</a>]</span><br /> -
Broad nasal bridge <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249321001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249321001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849367&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849367</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000431" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000431</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000431" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000431</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=3f6587f50506c9d70db0628b3fa5f2c5" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Nasal_Bridge,Wide-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=3f6587f50506c9d70db0628b3fa5f2c5&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Mouth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Small opening of the mouth <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860480&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860480</a>]</span><br /> -
Narrow palate <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1398312&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1398312</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000189" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000189</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000189" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000189</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=e39db66f262e5c44e3a381147eb7f8db" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Palate,Narrow-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=e39db66f262e5c44e3a381147eb7f8db&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
High-arched palate <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/27272007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">27272007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q38.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q38.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240635&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240635</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000218" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000218</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000218" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000218</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Teeth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Dental crowding <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12351004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12351004</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.31</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0040433&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0040433</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000678" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000678</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000678" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000678</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=bc1fcb988aa10dd9d5f3774c342364a9" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Dental_Crowding-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=bc1fcb988aa10dd9d5f3774c342364a9&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Talon cusps <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/234955005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">234955005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0399357&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0399357</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011087" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011087</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011087" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011087</a>]</span><br /> -
Crossbite <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/109495004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">109495004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0242385&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0242385</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0033792" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0033792</a>]</span><br /> -
Screwdriver permanent incisors <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1969316&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1969316</a>]</span><br /> -
Enamel hypoplasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26597004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26597004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011351&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011351</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006297" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006297</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006297" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006297</a>]</span><br /> -
Enamel discoloration <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1969317&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1969317</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> CARDIOVASCULAR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Heart </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Atrial septal defects <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253366007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253366007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405752007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405752007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/70142008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">70142008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q21.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q21.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q21.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q21.10</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018817&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018817</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001631" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001631</a>]</span><br /> -
Ventricular septal defects <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/30288003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">30288003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253549006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253549006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/768552007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">768552007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q21.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q21.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/745.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">745.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018818&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018818</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001629" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001629</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001629" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001629</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Vascular </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Patent ductus arteriosus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/83330001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">83330001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q25.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q25.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/747.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">747.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013274&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013274</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001643" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001643</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001643" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001643</a>]</span><br /> -
Capillary hemangiomas <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/402867006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">402867006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/83343001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">83343001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/56975005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">56975005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/195382003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">195382003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/254206003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">254206003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q82.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q82.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0206733&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0206733</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005306" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005306</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> RESPIRATORY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Recurrent respiratory infections <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806482&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806482</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002205" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002205</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002205" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002205</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> CHEST </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Ribs Sternum Clavicles & Scapulae </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Sternal anomalies <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860493&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860493</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000766" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000766</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000766" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000766</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> ABDOMEN </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Gastrointestinal </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Constipation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/14760008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">14760008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K59.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K59.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K59.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K59.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/564.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">564.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/564.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">564.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009806&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009806</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002019" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002019</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002019" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002019</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GENITOURINARY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> External Genitalia (Male) </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hypospadias <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204888000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204888000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/416010008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">416010008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q54.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q54.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q54.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q54.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q54" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q54</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/752.61" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">752.61</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0848558&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0848558</a>, <a href="https://bioportal.bioontology.org/search?q=C1691215&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1691215</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003244" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003244</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000047" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000047</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000047" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000047</a>]</span><br /> -
Shawl scrotum <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1858539&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858539</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000049" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000049</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000049" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000049</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Internal Genitalia (Male) </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Cryptorchidism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204878001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204878001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q53.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q53.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/752.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">752.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0010417&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0010417</a>, <a href="https://bioportal.bioontology.org/search?q=C5441920&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5441920</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000028" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000028</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000028" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000028</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKELETAL </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Delayed skeletal maturation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/123983008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">123983008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0541764&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0541764</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002750" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002750</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002750" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002750</a>]</span><br /> -
Joint hypermobility <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/788453008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">788453008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862377&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862377</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001382" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001382</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001382" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001382</a>]</span><br />
</span>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Skull </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Large foramen magnum <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844508&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844508</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002700" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002700</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002700" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002700</a>]</span><br /> -
Parietal foramina <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/718099006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">718099006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29307005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29307005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/11240000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">11240000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0222706&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0222706</a>, <a href="https://bioportal.bioontology.org/search?q=C1868598&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868598</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002697" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002697</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0004423" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004423</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002697" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002697</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Spine </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Scoliosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/298382003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">298382003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/20944008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">20944008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111266001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111266001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M41.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0559260&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0559260</a>, <a href="https://bioportal.bioontology.org/search?q=C0036439&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036439</a>, <a href="https://bioportal.bioontology.org/search?q=C0700208&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0700208</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002650</a>]</span><br /> -
Spina bifida occulta <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/76916001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">76916001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q76.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q76.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/756.17" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">756.17</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0080174&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0080174</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003298" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003298</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003298" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003298</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Pelvis </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Small, flared iliac wings <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854771&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854771</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Limbs </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Patellar dislocation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263029007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263029007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1135812&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1135812</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002999" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002999</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002999" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002999</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Hands </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Broad thumbs with radial angulation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1867130&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867130</a>]</span><br /> -
Fifth finger clinodactyly <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850049&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850049</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004209" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004209</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004209" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004209</a>]</span><br /> -
Persistent fetal fingertip pads <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835807&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835807</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001212" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001212</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001212" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001212</a>]</span><br /> -
Syndactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/373413006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">373413006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q70.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q70.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q70" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q70</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/755.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">755.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2117411&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2117411</a>, <a href="https://bioportal.bioontology.org/search?q=C0039075&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039075</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001159" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001159</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001159" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001159</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=bcc47de729f2f227ecf8427f5adf6d12" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Foot,Osseous_Syndactyly_of-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=bcc47de729f2f227ecf8427f5adf6d12&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Polydactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/367506006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">367506006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q69.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q69.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q69" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q69</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/755.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">755.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/755.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">755.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0152427&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0152427</a>, <a href="https://bioportal.bioontology.org/search?q=C2117329&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2117329</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010442" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010442</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010442" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010442</a>]</span><br /> -
Single transverse palmar creases <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248409006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248409006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0424731&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424731</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000954" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000954</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000954" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000954</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Feet </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Broad great toes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1867131&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867131</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010055" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010055</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010055" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010055</a>]</span><br /> -
Plantar crease between first and second toes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1867132&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867132</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008107" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008107</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008107" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008107</a>]</span><br /> -
Pes planus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/23407003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">23407003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/203534009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">203534009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/53226007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">53226007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M21.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M21.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/754.61" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.61</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/734" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">734</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0016202&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0016202</a>, <a href="https://bioportal.bioontology.org/search?q=C0392477&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0392477</a>, <a href="https://bioportal.bioontology.org/search?q=C0264133&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0264133</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001763" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001763</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001763" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001763</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=1f893093d35c2d1df583eed57a47b6cb" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Pes_Planus-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=1f893093d35c2d1df583eed57a47b6cb&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKIN, NAILS, & HAIR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Skin </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Single transverse palmar creases <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248409006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248409006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0424731&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424731</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000954" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000954</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000954" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000954</a>]</span><br /> -
Keloid formation in surgical scars <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1867133&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867133</a>]</span><br /> -
Capillary hemangiomas <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/402867006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">402867006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/83343001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">83343001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/56975005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">56975005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/195382003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">195382003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/254206003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">254206003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q82.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q82.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0206733&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0206733</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005306" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005306</a>]</span><br /> -
Cafe-au-lait spots <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/201281002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">201281002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L81.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L81.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221263&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221263</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000957" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000957</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000957" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000957</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Hair </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hirsutism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399939002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399939002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L68.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L68.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/704.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">704.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001007</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> NEUROLOGIC </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Central Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Mental retardation (average IQ 51) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1867122&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867122</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/228156007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">228156007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/110359009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">110359009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/317-319.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">317-319.99</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span><br /> -
Agenesis of corpus callosum <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/5102002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">5102002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q04.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q04.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0175754&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0175754</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001274" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001274</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001274" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001274</a>]</span><br /> -
Severe expressive speech delay <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1867123&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867123</a>]</span><br /> -
Poor coordination <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0563243&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0563243</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002370" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002370</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002370" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002370</a>]</span><br /> -
EEG abnormalities <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/274521009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">274521009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R94.01" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R94.01</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151611&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151611</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002353" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002353</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002353" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002353</a>]</span><br /> -
Seizures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91175000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91175000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0036572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span><br /> -
Hypotonia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398151007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398151007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398152000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398152000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026827&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026827</a>, <a href="https://bioportal.bioontology.org/search?q=C1858120&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858120</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001290" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001290</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span><br /> -
Hyperreflexia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86854008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86854008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151889&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151889</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001347</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001347</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Behavioral Psychiatric Manifestations </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Good social contacts <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1969313&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1969313</a>]</span><br /> -
Short attention span <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/247762003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">247762003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0262630&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0262630</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000736" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000736</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000736" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000736</a>]</span><br /> -
Labile mood <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/18963009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">18963009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/R45.86" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R45.86</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/799.24" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">799.24</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0085633&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085633</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000712" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000712</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> IMMUNOLOGY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Recurrent infections <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/451991000124106" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">451991000124106</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239998&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239998</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002719" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002719</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002719" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002719</a>]</span><br /> -
Polysaccharide antibody response defect <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2750040&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2750040</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> NEOPLASIA </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Increased risk of tumor formation, especially of the head <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1867127&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867127</a>]</span><br /> -
Increased risk of leukemia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1969318&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1969318</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> LABORATORY ABNORMALITIES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Ten percent of cases are secondary to submicroscopic deletions of 16p13.3 detectable by FISH <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1867135&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867135</a>]</span><br /> -
A small minority of patients have translocations and inversions involving 16p13.3 <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1867136&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867136</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Incidence of 1 in 100,000 to 125,000 at birth<br /> -
De novo mutation in most cases<br /> -
Variable severity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861403&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861403</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003828" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003828</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003828" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003828</a>]</span><br /> -
Truncating mutations in CREBBP found in 10% of patients<br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> MOLECULAR BASIS </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Caused by mutation in the CREB-binding protein gene (CREBBP, <a href="/entry/600140#0001">600140.0001</a>)<br />
</span>
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</div>
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
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<div class="small">
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Rubinstein-Taybi syndrome
- <a href="/phenotypicSeries/PS180849">PS180849</a>
- 3 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/4?start=-3&limit=10&highlight=4"> 16p13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610543"> Chromosome 16p13.3 deletion syndrome </a>
</span>
</td>
<td>
<span class="mim-font">
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="4 - A contiguous gene duplication or deletion syndrome in which multiple genes are involved"> 4 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610543"> 610543 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610543"> DEL16p13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610543"> 610543 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/150?start=-3&limit=10&highlight=150"> 16p13.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180849"> Rubinstein-Taybi syndrome 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/180849"> 180849 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600140"> CREBBP </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/600140"> 600140 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/22/315?start=-3&limit=10&highlight=315"> 22q13.2 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613684"> Rubinstein-Taybi syndrome 2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/613684"> 613684 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602700"> EP300 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602700"> 602700 </a>
</span>
</td>
</tr>
</tbody>
</table>
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
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<p>A number sign (#) is used with this entry because Rubinstein-Taybi syndrome-1 (RSTS1) is caused by heterozygous mutation in the gene encoding the transcriptional coactivator CREB-binding protein (CREBBP; <a href="/entry/600140">600140</a>) on chromosome 16p13.</p>
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<p>Rubinstein-Taybi syndrome is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features. The facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly arched palate, mild micrognathia, and characteristic grimacing or abnormal smile. Affected individuals also have an increased risk of tumor formation (<a href="#57" class="mim-tip-reference" title="Rubinstein, J. H., Taybi, H. &lt;strong&gt;Broad thumbs and toes and facial abnormalities.&lt;/strong&gt; Am. J. Dis. Child. 105: 588-608, 1963.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13983033/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;13983033&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archpedi.1963.02080040590010&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="13983033">Rubinstein and Taybi, 1963</a>; review by <a href="#33" class="mim-tip-reference" title="Hennekam, R. C. M. &lt;strong&gt;Rubinstein-Taybi syndrome.&lt;/strong&gt; Europ. J. Hum. Genet. 14: 981-985, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16868563/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16868563&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/sj.ejhg.5201594&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16868563">Hennekam, 2006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13983033+16868563" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Floating-Harbor syndrome (<a href="/entry/136140">136140</a>), which shows phenotypic overlap with Rubinstein-Taybi syndrome, is caused by mutation in the SRCAP gene (<a href="/entry/611421">611421</a>), a coactivator for CREBBP.</p><p><strong><em>Genetic Heterogeneity of Rubinstein-Taybi Syndrome</em></strong></p><p>
Rubinstein-Taybi syndrome-1 (RSTS1) constitutes about 50 to 70% of patients with the disorder. Rubinstein-Taybi syndrome-2 (RSTS2; <a href="/entry/613684">613684</a>) comprises about 3% of patients and is primarily due to de novo heterozygous mutation in the EP300 gene (<a href="/entry/602700">602700</a>) on chromosome 22q13 (<a href="#3" class="mim-tip-reference" title="Bartsch, O., Labonte, J., Albrecht, B., Wieczorek, D., Lechno, S., Zechner, U., Haaf, T. &lt;strong&gt;Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome.&lt;/strong&gt; Am. J. Med. Genet. 152A: 181-184, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20014264/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20014264&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.33153&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="20014264">Bartsch et al., 2010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20014264" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>See also chromosome 16p13.3 deletion syndrome (<a href="/entry/610543">610543</a>), a severe form of Rubinstein-Taybi syndrome resulting from a contiguous gene deletion involving the CREBBP gene as well as other neighboring genes.</p>
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<p><a href="#57" class="mim-tip-reference" title="Rubinstein, J. H., Taybi, H. &lt;strong&gt;Broad thumbs and toes and facial abnormalities.&lt;/strong&gt; Am. J. Dis. Child. 105: 588-608, 1963.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13983033/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;13983033&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archpedi.1963.02080040590010&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="13983033">Rubinstein and Taybi (1963)</a> reported a syndrome characterized by mental retardation, broad thumbs and toes, and facial abnormalities. <a href="#58" class="mim-tip-reference" title="Rubinstein, J. H. &lt;strong&gt;The broad thumb syndrome--progress report 1968.&lt;/strong&gt; Birth Defects Orig. Art. Ser. V(2): 25-41, 1969."None>Rubinstein (1969)</a> found parental age to be about average. <a href="#40" class="mim-tip-reference" title="Levy, N. S. &lt;strong&gt;Juvenile glaucoma in the Rubinstein-Taybi syndrome.&lt;/strong&gt; J. Pediat. Ophthal. 13: 141-143, 1976.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1018193/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1018193&lt;/a&gt;]" pmid="1018193">Levy (1976)</a> described juvenile glaucoma in RSTS and <a href="#44" class="mim-tip-reference" title="McKusick, V. A. &lt;strong&gt;Personal Communication.&lt;/strong&gt; Baltimore: Md. 1968."None>McKusick (1968)</a> observed congenital glaucoma. Talon cusps were reported in nearly 90% of patients with Rubinstein-Taybi syndrome by <a href="#22" class="mim-tip-reference" title="Gardner, D. G., Girgis, S. S. &lt;strong&gt;Talon cusps: a dental anomaly in the Rubinstein-Taybi syndrome.&lt;/strong&gt; Oral Surg. Oral Med. Oral Path. 47: 519-521, 1979.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/286273/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;286273&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0030-4220(79)90274-3&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="286273">Gardner and Girgis (1979)</a> and <a href="#19" class="mim-tip-reference" title="Davis, P. J., Brook, A. H. &lt;strong&gt;The presentation of talon cusp: diagnosis, clinical features, associations and possible aetiology.&lt;/strong&gt; Brit. Dent. J. 160: 84-88, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3456236/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3456236&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/sj.bdj.4805774&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3456236">Davis and Brook (1986)</a>. <a href="#13" class="mim-tip-reference" title="Bonioli, E., Bellini, C. &lt;strong&gt;Rubinstein-Taybi syndrome and pheochromocytoma. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 44: 386 only, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1488992/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1488992&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320440325&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1488992">Bonioli and Bellini (1992)</a> reported the association of RSTS with pheochromocytoma in a 7-year-old girl. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13983033+1488992+1018193+286273+3456236" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#29" class="mim-tip-reference" title="Hennekam, R. C. M., Stevens, C. A., Van de Kamp, J. J. P. &lt;strong&gt;Etiology and recurrence risk in Rubinstein-Taybi syndrome.&lt;/strong&gt; Am. J. Med. Genet. Suppl. 6: 56-64, 1990."None>Hennekam et al. (1990)</a> reported that among 45 RSTS patients in the Netherlands, all had broad halluces but only 39 had broad thumbs. Persistent fetal pads of the fingers, shawl scrotum, and frequent fractures were found in several patients. Constipation was a problem, and easily collapsible laryngeal walls caused difficulties in sleep and anesthesia. <a href="#32" class="mim-tip-reference" title="Hennekam, R. C. M., Van Doorne, J. M. &lt;strong&gt;Oral aspects of Rubinstein-Taybi syndrome.&lt;/strong&gt; Am. J. Med. Genet. Suppl. 6: 42-47, 1990."None>Hennekam and Van Doorne (1990)</a> commented on short upper lip and pouting lower lip, a feature documented in many photographs by <a href="#29" class="mim-tip-reference" title="Hennekam, R. C. M., Stevens, C. A., Van de Kamp, J. J. P. &lt;strong&gt;Etiology and recurrence risk in Rubinstein-Taybi syndrome.&lt;/strong&gt; Am. J. Med. Genet. Suppl. 6: 56-64, 1990."None>Hennekam et al. (1990)</a>. A high, slit-like palate was also noted. <a href="#41" class="mim-tip-reference" title="Lowry, R. B. &lt;strong&gt;Overlap between Rubinstein-Taybi and Saethre-Chotzen syndromes: a case report.&lt;/strong&gt; Am. J. Med. Genet. Suppl. 6: 73-76, 1990."None>Lowry (1990)</a> discussed the phenotypic overlap with the Saethre-Chotzen syndrome (<a href="/entry/101400">101400</a>).</p><p><a href="#26" class="mim-tip-reference" title="Guion-Almeida, M. L., Richieri-Costa, A. &lt;strong&gt;Callosal agenesis, iris coloboma, and megacolon in a Brazilian boy with Rubinstein-Taybi syndrome.&lt;/strong&gt; Am. J. Med. Genet. 43: 929-931, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1415341/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1415341&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320430604&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1415341">Guion-Almeida and Richieri-Costa (1992)</a> described agenesis of the corpus callosum, iris coloboma, and megacolon in a boy with RSTS. <a href="#37" class="mim-tip-reference" title="Kanjilal, D., Basir, M. A., Verma, R. S., Rajegowda, B. K., Lala, R., Nagaraj, A. &lt;strong&gt;New dysmorphic features in Rubinstein-Taybi syndrome.&lt;/strong&gt; J. Med. Genet. 29: 669-670, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1404300/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1404300&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.29.9.669&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1404300">Kanjilal et al. (1992)</a> described pulmonary hypertension, mitral valve regurgitation, and patent ductus arteriosus as well as hypoplastic right kidney in a 3-month-old child with delayed motor and mental development corresponding to that of a 1-month-old infant. <a href="#62" class="mim-tip-reference" title="Shashi, V., Fryburg, J. S. &lt;strong&gt;Vascular ring leading to tracheoesophageal compression in a patient with Rubinstein-Taybi syndrome.&lt;/strong&gt; Clin. Genet. 48: 324-327, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8835330/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8835330&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1995.tb04119.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8835330">Shashi and Fryburg (1995)</a> described mediastinal vascular ring causing tracheoesophageal obstruction with respiratory symptoms and dysphagia in a child with RSTS. The patient had a remarkable improvement in swallowing ability after surgery and some decrease in the frequency of respiratory infections. <a href="#16" class="mim-tip-reference" title="Chun, K., Colombani, P. M., Dudgeon, D. L., Haller, J. A., Jr. &lt;strong&gt;Diagnosis and management of congenital vascular rings: a 22-year experience.&lt;/strong&gt; Ann. Thorac. Surg. 53: 597-603, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1554267/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1554267&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0003-4975(92)90317-w&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1554267">Chun et al. (1992)</a> had reported 1 case of RSTS among their large series of cases of vascular rings at Johns Hopkins. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1404300+1415341+1554267+8835330" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#64" class="mim-tip-reference" title="Stevens, C. A., Bhakta, M. G. &lt;strong&gt;Cardiac abnormalities in the Rubinstein-Taybi syndrome.&lt;/strong&gt; Am. J. Med. Genet. 59: 346-348, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8599359/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8599359&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320590313&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8599359">Stevens and Bhakta (1995)</a> evaluated cardiac abnormalities with a questionnaire survey. Of 138 patients in the study, 45 (32.6%) had a known cardiac abnormality; 27 patients had single defects, including atrial septal defect, ventricular septal defect, patent ductus arteriosus (see <a href="/entry/607411">607411</a>), coarctation of the aorta, pulmonic stenosis, or bicuspid aortic valve. In 8 of these individuals the problem resolved spontaneously, while 8 required surgery. Complex congenital heart defects of 2 or more abnormalities were present in 16 patients; 2 of these patients had spontaneous resolution, while 7 required surgery. Surgery was planned in 5 additional patients. It is noteworthy that pulmonic stenosis was present in only 1 patient as an isolated finding. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8599359" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#45" class="mim-tip-reference" title="Miller, R. W., Rubinstein, J. H. &lt;strong&gt;Tumors in Rubinstein-Taybi syndrome&lt;/strong&gt; Am. J. Med. Genet. 56: 112-115, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7747773/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7747773&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320560125&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7747773">Miller and Rubinstein (1995)</a> noted that patients with RSTS have an increased risk of tumor formation. Among over 700 patients, 17 had malignant tumors and 19 had benign tumors. Twelve of the tumors were located in the nervous system, including oligodendroglioma, medulloblastoma, neuroblastoma, and meningioma. Other tumor types included rhabdomyosarcoma and leukemias, among others. <a href="#45" class="mim-tip-reference" title="Miller, R. W., Rubinstein, J. H. &lt;strong&gt;Tumors in Rubinstein-Taybi syndrome&lt;/strong&gt; Am. J. Med. Genet. 56: 112-115, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7747773/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7747773&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320560125&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7747773">Miller and Rubinstein (1995)</a> suggested that about 5% of RSTS patients develop a neoplasm, which is similar to the frequency of neoplasm in neurofibromatosis type I (<a href="/entry/162200">162200</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7747773" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Bonioli, E., Bellini, C., Senes, F. M., Palmieri, A., Di Stadio, M., Pinelli, G. &lt;strong&gt;Slipped capital femoral epiphysis associated with Rubinstein-Taybi syndrome.&lt;/strong&gt; Clin. Genet. 44: 79-81, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8275564/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8275564&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1993.tb03851.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8275564">Bonioli et al. (1993)</a> described the association of RSTS with slipped capital femoral epiphysis in a 10-year-old girl. <a href="#67" class="mim-tip-reference" title="Stevens, C. A. &lt;strong&gt;Patellar dislocation in Rubinstein-Taybi syndrome.&lt;/strong&gt; Am. J. Med. Genet. 72: 188-190, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9382141/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9382141&lt;/a&gt;]" pmid="9382141">Stevens (1997)</a> described 11 patients with RSTS and patellar dislocation. The age at diagnosis of patellar dislocation ranged from birth to 16 years. Chronic dislocations were present in 10 patients, and 8 of 11 had bilateral patellar dislocation. Surgical stabilization of the patella was required in 8 patients; most achieved a good outcome with surgical repair. All families reported that the patellar dislocations impaired developmental skills, which improved after surgery. Other joint abnormalities, including congenital dislocations and laxity of joints, were described in 7 of the 11 patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8275564+9382141" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#34" class="mim-tip-reference" title="Ihara, K., Kuromaru, R., Takemoto, M., Hara, T. &lt;strong&gt;Rubinstein-Taybi syndrome: a girl with a history of neuroblastoma and premature thelarche.&lt;/strong&gt; Am. J. Med. Genet. 83: 365-366, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10232744/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10232744&lt;/a&gt;]" pmid="10232744">Ihara et al. (1999)</a> suggested that premature thelarche (breast development) may not be uncommon in girls with RSTS. They reported breast development at age 6 years in a girl who had been found at the age of 6 months to have a neuroblastoma on a nationwide neuroblastoma screening program and had been surgically treated with a favorable clinical course. Among 12 girls with RSTS, <a href="#38" class="mim-tip-reference" title="Kurosawa, K., Masuno, M., Imaizumi, K., Matsuo, M., Kuroki, Y., Tachibana, K. &lt;strong&gt;Premature thelarche in Rubinstein-Taybi syndrome. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 109: 72-73, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11932997/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11932997&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.10297&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11932997">Kurosawa et al. (2002)</a> observed 2 with premature thelarche, and a third with premature thelarche and genital bleeding. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10232744+11932997" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#46" class="mim-tip-reference" title="Naimi, D. R., Munoz, J., Rubinstein, J., Hostoffer, R. W., Jr. &lt;strong&gt;Rubinstein-Taybi syndrome: an immune deficiency as a cause for recurrent infections.&lt;/strong&gt; Allergy Asthma Proc. 27: 281-284, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16913274/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16913274&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.2500/aap.2006.27.2864&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16913274">Naimi et al. (2006)</a> reported 3 unrelated patients with RSTS who had recurrent upper and lower respiratory infections and otitis media associated with defective antibody response to polysaccharide antigens. One of the 3 also had decreased numbers of T cells. One patient responded well to IgG therapy. The authors suggested that some patients with RSTS may have a primary immunodeficiency, which may explain the increased rate of respiratory infections in these patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16913274" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Bloch-Zupan, A., Stachtou, J., Emmanouil, D., Arveiler, B., Griffiths, D., Lacombe, D. &lt;strong&gt;Oro-dental features as useful diagnostic tool in Rubinstein-Taybi syndrome.&lt;/strong&gt; Am. J. Med. Genet. 143A: 570-573, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17318847/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17318847&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.31622&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17318847">Bloch-Zupan et al. (2007)</a> reported detailed orodental features of 40 patients with RSTS ranging in age from 4 to 30 years. Nondental oral findings included small mouth, thin upper lip, micrognathia, retrognathia, narrow maxilla, high-arched and narrow palate, wide alveolar ridges, and enlarged tonsils. Dental anomalies included anomalies of tooth number, talon cusps, screwdriver permanent incisors, enamel hypoplasia/discoloration, enamel wear, tooth crowding, and crossbite. Many patients had gastroesophageal reflux, which may have contributed to enamel wear. Timing of tooth eruption was usually normal. <a href="#10" class="mim-tip-reference" title="Bloch-Zupan, A., Stachtou, J., Emmanouil, D., Arveiler, B., Griffiths, D., Lacombe, D. &lt;strong&gt;Oro-dental features as useful diagnostic tool in Rubinstein-Taybi syndrome.&lt;/strong&gt; Am. J. Med. Genet. 143A: 570-573, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17318847/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17318847&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.31622&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17318847">Bloch-Zupan et al. (2007)</a> noted that dental anomalies may aid in the diagnosis of RSTS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17318847" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#15" class="mim-tip-reference" title="Caksen, H., Bartsch, O., Okur, M., Temel, H., Acikgoz, M., Yilmaz, C. &lt;strong&gt;Rubinstein-Taybi syndrome and CREBBP c.201_202delTA mutation: a case presenting with varicella meningoencephalitis.&lt;/strong&gt; Genet. Counsel. 20: 255-260, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19852432/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;19852432&lt;/a&gt;]" pmid="19852432">Caksen et al. (2009)</a> reported an 8-month-old boy with genetically confirmed RSTS who presented with varicella meningoencephalitis. The authors postulated a primary immune deficiency in this child. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19852432" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#66" class="mim-tip-reference" title="Stevens, C. A., Pouncey, J., Knowles, D. &lt;strong&gt;Adults with Rubinstein-Taybi syndrome.&lt;/strong&gt; Am. J. Med. Genet. 155A: 1680-1684, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21671385/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21671385&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.34058&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21671385">Stevens et al. (2011)</a> reported the results of a questionnaire-based study of 61 adults with RSTS ranging in age from 18 to 67 years (average, 28.5 years). The average height in men was 158.5 cm and in women 150.1 cm. Many were overweight (25%), obese (33%), or morbidly obese (8%). The most commonly reported medical problems were visual difficulties (79%), including need for glasses (80%), strabismus (33%), glaucoma (11%), and cataracts (7%). Other problems included keloids (57%), eating problems (53%), spinal curvature (49%), joint laxity (46%), and dental problems (80%). All had moderate mental retardation, but most achieved some independence for self-care and many were in supported work situations. Most (69%) lived with their parents, but others lived in group homes (21%) or supervised apartments (5%). Many had behavioral problems, such as poor attention span and autistic features, and worsening of behavior over time was reported in about 37%. Very few of the participants were seeing a geneticist as an adult. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21671385" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Beets, L., Rodriguez-Fonseca, C., Hennekam, R. C. &lt;strong&gt;Growth charts for individuals with Rubinstein-Taybi syndrome.&lt;/strong&gt; Am. J. Med. Genet. 164A: 2300-2309, 2014.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/24989455/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;24989455&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.36654&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="24989455">Beets et al. (2014)</a> provided growth charts for individuals with Rubinstein-Taybi syndrome, which were based on individuals with a molecularly proven diagnosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24989455" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Incomplete Rubinstein-Taybi Syndrome</em></strong></p><p>
<a href="#18" class="mim-tip-reference" title="Cotsirilos, P., Taylor, J. C., Matalon, R. &lt;strong&gt;Dominant inheritance of a syndrome similar to Rubinstein-Taybi.&lt;/strong&gt; Am. J. Med. Genet. 26: 85-93, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3812583/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3812583&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320260115&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3812583">Cotsirilos et al. (1987)</a> described 2 sibs and their mother with a syndrome that they reported as similar to Rubinstein-Taybi syndrome. All 3 individuals, who appeared to be of normal intelligence, had broad terminal phalanges of the thumbs and the great toes, antimongoloid slant of the palpebral fissures, and characteristic facial appearance with beaked nose. Four sibs of the mother as well as 2 other members of the kindred were said to have broad thumbs. There were no instances of male-to-male transmission. Autosomal or X-linked dominant inheritance was suggested. <a href="#12" class="mim-tip-reference" title="Bonioli, E., Bellini, C. &lt;strong&gt;Inheritance of Rubinstein-Taybi syndrome. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 32: 559 only, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2774008/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2774008&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320320433&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2774008">Bonioli and Bellini (1989)</a> reported a family in which 4 relatives of a full-blown case of Rubinstein-Taybi syndrome had broad thumbs, apparently inherited as a dominant trait with incomplete penetrance. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2774008+3812583" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Bartsch, O., Locher, K., Meinecke, P., Kress, W., Seemanova, E., Wagner, A., Ostermann, K., Rodel, G. &lt;strong&gt;Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP.&lt;/strong&gt; J. Med. Genet. 39: 496-501, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12114483/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12114483&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.39.7.496&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12114483">Bartsch et al. (2002)</a> reported a girl with a mild variant of RSTS. Her face was round and slightly dysmorphic with intermittent exotropia, subtle ptosis, a beaked nose, and dorsally rotated ears. Her hands showed broad thumbs with brachytelephalangism, and her feet had broad big toes. Although she had low intellectual function, she was not mentally retarded. Genetic analysis revealed a missense mutation in the CREBBP gene (<a href="/entry/600140#0005">600140.0005</a>), confirming that the phenotype is consistent with 'incomplete' RSTS. <a href="#4" class="mim-tip-reference" title="Bartsch, O., Locher, K., Meinecke, P., Kress, W., Seemanova, E., Wagner, A., Ostermann, K., Rodel, G. &lt;strong&gt;Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP.&lt;/strong&gt; J. Med. Genet. 39: 496-501, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12114483/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12114483&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.39.7.496&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12114483">Bartsch et al. (2002)</a> concluded that mild alleles or modifying factors can lead to incomplete RSTS, and suggested that the Rubinstein-like syndrome described by <a href="#18" class="mim-tip-reference" title="Cotsirilos, P., Taylor, J. C., Matalon, R. &lt;strong&gt;Dominant inheritance of a syndrome similar to Rubinstein-Taybi.&lt;/strong&gt; Am. J. Med. Genet. 26: 85-93, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3812583/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3812583&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320260115&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3812583">Cotsirilos et al. (1987)</a> and <a href="#12" class="mim-tip-reference" title="Bonioli, E., Bellini, C. &lt;strong&gt;Inheritance of Rubinstein-Taybi syndrome. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 32: 559 only, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2774008/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2774008&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320320433&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2774008">Bonioli and Bellini (1989)</a> can be equated with incomplete RSTS. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2774008+12114483+3812583" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Bartsch, O., Kress, W., Kempf, O., Lechno, S., Haaf, T., Zechner, U. &lt;strong&gt;Inheritance and variable expression in Rubinstein-Taybi syndrome.&lt;/strong&gt; Am. J. Med. Genet. 152A: 2254-2261, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20684013/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20684013&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.33598&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="20684013">Bartsch et al. (2010)</a> reported a 3-generation German family with incomplete RSTS, including a 12-year-old female proband, her mother, and the maternal grandmother. The proband had mild dysmorphic features, such as high-arched eyebrows, elongated face, prominent nose, high-arched palate, short broad thumbs, and broad halluces. She had a short attention span, dyslexia, dyscalculia, reading difficulties, and needed special teaching in language and mathematics. Her mother had similar facial features, was mildly obese, and had normal intelligence. The grandmother reportedly had a similar appearance and had not finished school. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20684013" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The vast majority (about 99%) of cases of Rubinstein-Taybi syndrome occur sporadically resulting from de novo heterozygous mutations; vertical transmission is extremely rare but has been reported (summary by <a href="#2" class="mim-tip-reference" title="Bartsch, O., Kress, W., Kempf, O., Lechno, S., Haaf, T., Zechner, U. &lt;strong&gt;Inheritance and variable expression in Rubinstein-Taybi syndrome.&lt;/strong&gt; Am. J. Med. Genet. 152A: 2254-2261, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20684013/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20684013&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.33598&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="20684013">Bartsch et al., 2010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20684013" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#49" class="mim-tip-reference" title="Padfield, C. J., Partington, M. W., Simpson, N. E. &lt;strong&gt;The Rubinstein-Taybi syndrome.&lt;/strong&gt; Arch. Dis. Child. 43: 94-101, 1968.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5642988/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;5642988&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/adc.43.227.94&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="5642988">Padfield et al. (1968)</a> studied 17 patients with RSTS and found none of 50 sibs affected. <a href="#52" class="mim-tip-reference" title="Pfeifer, R. A. &lt;strong&gt;Rubinstein-Taybi-Syndrom bei wahrscheinlich eineiigen Zwillingen.&lt;/strong&gt; Humangenetik 6: 84-87, 1968.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5699899/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;5699899&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00287159&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="5699899">Pfeifer (1968)</a> described the syndrome in only 1 of presumably monozygotic twins. <a href="#1" class="mim-tip-reference" title="Baraitser, M., Preece, M. A. &lt;strong&gt;The Rubinstein-Taybi syndrome: occurrence in two sets of identical twins.&lt;/strong&gt; Clin. Genet. 23: 318-320, 1983.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6682729/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6682729&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1983.tb01884.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6682729">Baraitser and Preece (1983)</a>, on the other hand, reported the Rubinstein syndrome in all 4 members of 2 pairs of monozygotic twins. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5699899+6682729+5642988" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#20" class="mim-tip-reference" title="Der Kaloustian, V. M., Afifi, A. K., Sinno, A. A., Mire, J. &lt;strong&gt;The Rubinstein-Taybi syndrome: clinical and muscle electron microscopic study.&lt;/strong&gt; Am. J. Dis. Child. 124: 897-902, 1972.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4118155/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4118155&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archpedi.1972.02110180099014&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4118155">Der Kaloustian et al. (1972)</a> described affected brother and sister from consanguineous parents. However, whereas the facies was characteristic, broad first digits were absent clinically and questionable radiographically. <a href="#24" class="mim-tip-reference" title="Gillies, D. R. N., Roussounis, S. H. &lt;strong&gt;Rubinstein-Taybi syndrome: further evidence of a genetic aetiology.&lt;/strong&gt; Dev. Med. Child Neurol. 27: 751-755, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4092848/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4092848&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1469-8749.1985.tb03799.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4092848">Gillies and Roussounis (1985)</a> reported 2 families: in one, 2 sibs were affected; in the other, the uncle of the index case was affected and other members of the family were judged to show varying degrees of expression of the disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4092848+4118155" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#65" class="mim-tip-reference" title="Stevens, C. A., Carey, J. C., Blackburn, B. L. &lt;strong&gt;Rubinstein-Taybi syndrome: a natural history study.&lt;/strong&gt; Am. J. Med. Genet. Suppl. 6: 30-37, 1990."None>Stevens et al. (1990)</a> found no second cases among the 91 sibs of 50 probands.</p><p><a href="#28" class="mim-tip-reference" title="Hennekam, R. C. M., Lommen, E. J. P., Strengers, J. L. M., Van Spijker, H. G., Jansen-Kokx, T. M. G. &lt;strong&gt;Rubinstein-Taybi syndrome in a mother and son.&lt;/strong&gt; Europ. J. Pediat. 148: 439-441, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2920750/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2920750&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00595907&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2920750">Hennekam et al. (1989)</a> described this disorder in mother and son, consistent with autosomal dominant inheritance. The mother's IQ was estimated to be about 65. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2920750" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#21" class="mim-tip-reference" title="Garcia, D., Karasik, J., Marion, R. &lt;strong&gt;Apparent dominant transmission of Rubinstein-Taybi syndrome (RTS). (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 51 (suppl.): A95, 1992."None>Garcia et al. (1992)</a> and <a href="#42" class="mim-tip-reference" title="Marion, R. W., Garcia, D. M., Karasik, J. B. &lt;strong&gt;Apparent dominant transmission of the Rubinstein-Taybi syndrome.&lt;/strong&gt; Am. J. Med. Genet. 46: 284-287, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8488872/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8488872&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320460309&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8488872">Marion et al. (1993)</a> reported 2 different cases of mother and daughter with RSTS. In one of these families, the mother had attended special education classes and had dropped out of school in the eleventh grade. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8488872" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#29" class="mim-tip-reference" title="Hennekam, R. C. M., Stevens, C. A., Van de Kamp, J. J. P. &lt;strong&gt;Etiology and recurrence risk in Rubinstein-Taybi syndrome.&lt;/strong&gt; Am. J. Med. Genet. Suppl. 6: 56-64, 1990."None>Hennekam et al. (1990)</a> reviewed data on 502 cases. In 12 of 13 proven or possible monozygotic twins, both children were affected. Two patients had reproduced, with 1 affected and 2 normal offspring. They found 1 recurrence among 708 sibs of 502 probands. From this information and the scarcity of affected sibs reported in the literature, they suggested that the recurrence risk figure for sibs is on the order of 0.1%, lower than the figure of 1.0% suggested by <a href="#9" class="mim-tip-reference" title="Berry, A. C. &lt;strong&gt;Rubinstein-Taybi syndrome.&lt;/strong&gt; J. Med. Genet. 24: 562-566, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3312608/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3312608&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.24.9.562&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3312608">Berry (1987)</a> for use in genetic counseling. The recurrence risk for offspring of affected persons may be 50%. <a href="#29" class="mim-tip-reference" title="Hennekam, R. C. M., Stevens, C. A., Van de Kamp, J. J. P. &lt;strong&gt;Etiology and recurrence risk in Rubinstein-Taybi syndrome.&lt;/strong&gt; Am. J. Med. Genet. Suppl. 6: 56-64, 1990."None>Hennekam et al. (1990)</a> favored an autosomal dominant mutation as the most likely cause. <a href="#54" class="mim-tip-reference" title="Robinson, T. W., Stewart, D. L., Hersh, J. H. &lt;strong&gt;Monozygotic twins concordant for Rubinstein-Taybi syndrome and implications for genetic counseling.&lt;/strong&gt; Am. J. Med. Genet. 45: 671-673, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8456842/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8456842&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320450602&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8456842">Robinson et al. (1993)</a> reported another set of monozygotic twins concordant for RSTS. <a href="#53" class="mim-tip-reference" title="Preis, S., Majewski, F. &lt;strong&gt;Monozygotic twins concordant for Rubinstein-Taybi syndrome: changing phenotype during infancy.&lt;/strong&gt; Clin. Genet. 48: 72-75, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7586654/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7586654&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1995.tb04058.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7586654">Preis and Majewski (1995)</a> reported monozygotic twin sisters concordant for RSTS diagnosed at the age of 10 weeks. They commented that the typical features of the syndrome increasingly developed in early infancy toward the total 'Gestalt' by the age of 2 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8456842+3312608+7586654" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Bartsch, O., Kress, W., Kempf, O., Lechno, S., Haaf, T., Zechner, U. &lt;strong&gt;Inheritance and variable expression in Rubinstein-Taybi syndrome.&lt;/strong&gt; Am. J. Med. Genet. 152A: 2254-2261, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20684013/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20684013&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.33598&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="20684013">Bartsch et al. (2010)</a> reported a German family in which the female proband, her mother, and her maternal grandmother all had incomplete RSTS associated with a heterozygous mutation in the CREBBP gene (T910A; <a href="/entry/600140#0008">600140.0008</a>). The 12-year-old proband had a more severe phenotype despite her mother and maternal grandmother carrying the same mutation. The findings were consistent with autosomal dominant inheritance of RSTS and indicated that in cases of inherited RSTS, affected children tend to have a more severe phenotype. <a href="#2" class="mim-tip-reference" title="Bartsch, O., Kress, W., Kempf, O., Lechno, S., Haaf, T., Zechner, U. &lt;strong&gt;Inheritance and variable expression in Rubinstein-Taybi syndrome.&lt;/strong&gt; Am. J. Med. Genet. 152A: 2254-2261, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20684013/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20684013&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.33598&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="20684013">Bartsch et al. (2010)</a> reported a second German family in which 3 sisters had RSTS with facial abnormalities, broad thumbs and great toes, and developmental delay. They were diagnosed at ages 11, 6, and 5 years, respectively. One developed a slow growing ganglioglioma of the brain at age 2. The father had broad thumbs and attended basic secondary school and worked as an unskilled laborer; he was clinically suspected of having mild or incomplete RSTS. Genetic analysis identified a heterozygous splice site mutation in the CREBBP gene in the 3 girls, and somatic mosaicism for the mutation in the father. Based on their patients and a review of the literature of familial occurrence of RSTS, <a href="#2" class="mim-tip-reference" title="Bartsch, O., Kress, W., Kempf, O., Lechno, S., Haaf, T., Zechner, U. &lt;strong&gt;Inheritance and variable expression in Rubinstein-Taybi syndrome.&lt;/strong&gt; Am. J. Med. Genet. 152A: 2254-2261, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20684013/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20684013&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.33598&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="20684013">Bartsch et al. (2010)</a> estimated a recurrence risk of 0.5 to 1.0% for parents of an affected child. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20684013" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
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</div>
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<div>
<a id="cytogenetics" class="mim-anchor"></a>
<h4 href="#mimCytogeneticsFold" id="mimCytogeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimCytogeneticsToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Cytogenetics</strong>
</span>
</h4>
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<div id="mimCytogeneticsFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p>The dermatoglyphic changes described by <a href="#25" class="mim-tip-reference" title="Giroux, J., Miller, J. R. &lt;strong&gt;Dermatoglyphics of the broad thumb and great toe syndrome.&lt;/strong&gt; Am. J. Dis. Child. 113: 207-209, 1967.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6019436/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6019436&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archpedi.1967.02090170071004&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6019436">Giroux and Miller (1967)</a> suggested a chromosomal abnormality. In 8 cases of RSTS, <a href="#75" class="mim-tip-reference" title="Wulfsberg, E. A., Klisak, I. J., Sparkes, R. S. &lt;strong&gt;High resolution chromosome banding in the Rubinstein-Taybi syndrome.&lt;/strong&gt; Clin. Genet. 23: 35-37, 1983.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6831761/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6831761&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1983.tb00434.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6831761">Wulfsberg et al. (1983)</a> could demonstrate no abnormality by high resolution cytogenetics, but <a href="#9" class="mim-tip-reference" title="Berry, A. C. &lt;strong&gt;Rubinstein-Taybi syndrome.&lt;/strong&gt; J. Med. Genet. 24: 562-566, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3312608/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3312608&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.24.9.562&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3312608">Berry (1987)</a> reviewed the etiogenetic basis and concluded that microdeletion is most likely. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3312608+6019436+6831761" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#35" class="mim-tip-reference" title="Imaizumi, K., Kuroki, Y. &lt;strong&gt;Rubinstein-Taybi syndrome with de novo reciprocal translocation t(2;16)(p13.3;p13.3).&lt;/strong&gt; Am. J. Med. Genet. 38: 636-639, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2063911/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2063911&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320380430&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2063911">Imaizumi and Kuroki (1991)</a> observed a sporadic case of Rubinstein-Taybi syndrome with de novo reciprocal translocation t(2;16)(p13.3;p13.3). Noting that <a href="#7" class="mim-tip-reference" title="Bazacliu, E., Tonceanu, S., Carp, G., Ghisoiu, V., Rosca, G. H., Rosca, S. &lt;strong&gt;Rubinstein-Taybi syndrome with karyotype changes and recurring pneumopathy (original in Hungarian).&lt;/strong&gt; Ftziologia 22: 645-650, 1973."None>Bazacliu et al. (1973)</a> had reported a patient with RSTS and a deletion of chromosome 2, <a href="#35" class="mim-tip-reference" title="Imaizumi, K., Kuroki, Y. &lt;strong&gt;Rubinstein-Taybi syndrome with de novo reciprocal translocation t(2;16)(p13.3;p13.3).&lt;/strong&gt; Am. J. Med. Genet. 38: 636-639, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2063911/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2063911&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320380430&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2063911">Imaizumi and Kuroki (1991)</a> suggested that the RSTS gene may be at 2p13.3 rather than at 16p13.3. During a systematic chromosomal survey of 7 unrelated patients with Rubinstein-Taybi syndrome, Tommerup et al. (<a href="#69" class="mim-tip-reference" title="Tommerup, N., van der Hagen, C. B., Heiberg, A. &lt;strong&gt;Tentative assignment of a locus for Rubinstein-Taybi syndrome to 16p13.3 by a de novo reciprocal translocation, t(7;16)(q34;p13.3). (Abstract)&lt;/strong&gt; Cytogenet. Cell Genet. 58: 2002-2003, 1991."None>1991</a>, <a href="#70" class="mim-tip-reference" title="Tommerup, N., van der Hagen, C. B., Heiberg, A. &lt;strong&gt;Tentative assignment of a locus for Rubinstein-Taybi syndrome to 16p13.3 by a de novo reciprocal translocation, t(7;16)(q34;p13.3).&lt;/strong&gt; Am. J. Med. Genet. 44: 237-241, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1456298/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1456298&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320440223&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1456298">1992</a>) found an apparently balanced de novo reciprocal translocation, t(7;16)(q34;p13.3), in an affected boy. The breakpoint in chromosome 16 involved the same subband p13.3 as was observed in a 2;16 translocation by <a href="#35" class="mim-tip-reference" title="Imaizumi, K., Kuroki, Y. &lt;strong&gt;Rubinstein-Taybi syndrome with de novo reciprocal translocation t(2;16)(p13.3;p13.3).&lt;/strong&gt; Am. J. Med. Genet. 38: 636-639, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2063911/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2063911&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320380430&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2063911">Imaizumi and Kuroki (1991)</a>. <a href="#39" class="mim-tip-reference" title="Lacombe, D., Saura, R., Taine, L., Battin, J. &lt;strong&gt;Confirmation of assignment of a locus for Rubinstein-Taybi syndrome gene to 16p13.3.&lt;/strong&gt; Am. J. Med. Genet. 44: 126-128, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1519642/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1519642&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320440134&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1519642">Lacombe et al. (1992)</a> provided confirmation for the assignment of the RSTS gene to 16p13.3. A 2-month-old girl with typical features showed a de novo pericentric inversion of one chromosome 16; her karyotype was 46,XX,inv(16)(p13.3;q13). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1456298+2063911+1519642" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a large collaborative study, <a href="#14" class="mim-tip-reference" title="Breuning, M. H., Dauwerse, H. G., Fugazza, G., Saris, J. J., Spruit, L., Wijnen, H., Tommerup, N., van der Hagen, C. B., Imaizumi, K., Kuroki, Y., van den Boogaard, M.-J., de Pater, J. M., Mariman, E. C. M., Hamel, B. C. J., Himmelbauer, H., Frischauf, A.-M., Stallings, R. L., Beverstock, G. C., van Ommen, G.-J. B., Hennekam, R. C. M. &lt;strong&gt;Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3.&lt;/strong&gt; Am. J. Hum. Genet. 52: 249-254, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8430691/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8430691&lt;/a&gt;]" pmid="8430691">Breuning et al. (1993)</a> investigated the region of 16p13.3 where 2 distinct reciprocal translocations occurred in patients with a clinical diagnosis of RSTS. The breakpoints lay between the cosmids N2 and RT1. Using 2-color fluorescence in situ hybridization, <a href="#14" class="mim-tip-reference" title="Breuning, M. H., Dauwerse, H. G., Fugazza, G., Saris, J. J., Spruit, L., Wijnen, H., Tommerup, N., van der Hagen, C. B., Imaizumi, K., Kuroki, Y., van den Boogaard, M.-J., de Pater, J. M., Mariman, E. C. M., Hamel, B. C. J., Himmelbauer, H., Frischauf, A.-M., Stallings, R. L., Beverstock, G. C., van Ommen, G.-J. B., Hennekam, R. C. M. &lt;strong&gt;Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3.&lt;/strong&gt; Am. J. Hum. Genet. 52: 249-254, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8430691/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8430691&lt;/a&gt;]" pmid="8430691">Breuning et al. (1993)</a> demonstrated that the signal from RT1 was missing from 1 chromosome 16 in 6 of 24 patients with RSTS. The parents of 5 of these patients did not show a deletion of RT1, indicating a de novo rearrangement. They estimated that RSTS is caused by submicroscopic interstitial deletions within 16p13.3 in approximately one-fourth of patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8430691" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By molecular studies, <a href="#30" class="mim-tip-reference" title="Hennekam, R. C. M., Tilanus, M., Hamel, B. C. J., Voshart-van Heeren, H., Mariman, E. C. M., van Beersum, S. E. C., van den Boogaard, M.-J. H., Breuning, M. H. &lt;strong&gt;Deletion at chromosome 16p13.3 as a cause of Rubinstein-Taybi syndrome: clinical aspects.&lt;/strong&gt; Am. J. Hum. Genet. 52: 255-262, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8430692/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8430692&lt;/a&gt;]" pmid="8430692">Hennekam et al. (1993)</a> found a copy of chromosome 16 from each parent in all 19 patients with RSTS studied. Uniparental disomy was also excluded for 5 other chromosome arms known to be imprinted in mice. Clinical features were essentially the same in patients with or without visible deletions, with a possible exception for the incidence of microcephaly, angulation of thumbs and halluces, and partial duplication of the halluces ('big toes'). <a href="#43" class="mim-tip-reference" title="Masuno, M., Imaizumi, K., Kurosawa, K., Makita, Y., Petrij, F., Dauwerse, H. G., Breuning, M. H., Kuroki, Y. &lt;strong&gt;Submicroscopic deletion of chromosome region 16p13.3 in a Japanese patient with Rubinstein-Taybi syndrome.&lt;/strong&gt; Am. J. Med. Genet. 53: 352-354, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7864045/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7864045&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320530409&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7864045">Masuno et al. (1994)</a> screened 25 Japanese patients with RSTS for microdeletions using high-resolution GTG banding and fluorescence in situ hybridization with a cosmid probe (RT1, D16S237). In 1 patient, a microdeletion was demonstrated by in situ hybridization, but none was detected by high-resolution banding. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8430692+7864045" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
</span>
<div>
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</div>
</div>
<div>
<a id="diagnosis" class="mim-anchor"></a>
<h4 href="#mimDiagnosisFold" id="mimDiagnosisToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimDiagnosisToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
<span class="mim-font">
<strong>Diagnosis</strong>
</span>
</h4>
</div>
<div id="mimDiagnosisFold" class="collapse in mimTextToggleFold">
<span class="mim-text-font">
<p><a href="#72" class="mim-tip-reference" title="Wallerstein, R., Anderson, C. E., Hay, B., Gupta, P., Gibas, L., Ansari, K., Cowchock, F. S., Weinblatt, V., Reid, C., Levitas, A., Jackson, L. &lt;strong&gt;Submicroscopic deletions at 16p13.3 in Rubinstein-Taybi syndrome: frequency and clinical manifestations in a North American population.&lt;/strong&gt; J. Med. Genet. 34: 203-206, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9132490/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9132490&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.34.3.203&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9132490">Wallerstein et al. (1997)</a> used the RT1 probe to screen 64 patients with clinical evidence of RSTS; 7 (11%) had a deletion. Another patient had a translocation involving the region without evidence of deletion. The features of coloboma, growth retardation, nevus flammeus, and hypotonia had a positive predictive value for the presence of an RT1 deletion. The authors commented that because of the relatively low frequency of deletions in RSTS, the RT1 probe is useful in diagnostic confirmation but has limited use as a screening tool. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9132490" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#50" class="mim-tip-reference" title="Petrij, F., Dauwerse, H. G., Blough, R. I., Giles, R. H., van der Smagt, J. J., Wallerstein, R., Maaswinkel-Mooy, P. D., van Karnebeek, C. D., van Ommen, G.-J. B., van Haeringen, A., Rubinstein, J. H., Saal, H. M., Hennekam, R. C. M., Peters, D. J. M., Breuning, M. H. &lt;strong&gt;Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations.&lt;/strong&gt; J. Med. Genet. 37: 168-176, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10699051/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10699051&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.37.3.168&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10699051">Petrij et al. (2000)</a> reported diagnostic analysis of 194 patients with RSTS. Of these, 86 had previously been reported. A total of 157 individuals were tested by FISH, 23 by protein truncation test and 14 by both methods for microdeletions and truncating mutations in CBP. Fourteen of 171 (8.2%) patients had microdeletions, and truncating mutations were found in 4 of 37 (10.8%) cases. Eighty-nine of the 171 were tested using 5 cosmid probes: RT1, RT100, RT102, RT191, RT203 and RT166. Eight microdeletions were found in this group, of which 4 were not deleted for RT1/RT100. <a href="#50" class="mim-tip-reference" title="Petrij, F., Dauwerse, H. G., Blough, R. I., Giles, R. H., van der Smagt, J. J., Wallerstein, R., Maaswinkel-Mooy, P. D., van Karnebeek, C. D., van Ommen, G.-J. B., van Haeringen, A., Rubinstein, J. H., Saal, H. M., Hennekam, R. C. M., Peters, D. J. M., Breuning, M. H. &lt;strong&gt;Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations.&lt;/strong&gt; J. Med. Genet. 37: 168-176, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10699051/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10699051&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.37.3.168&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10699051">Petrij et al. (2000)</a> concluded that the use of all 5 probes is essential to detect all microdeletions in patients with clinical features of RSTS, and stated that microdeletions and truncating mutations in CBP account for approximately 20% of mutations in individuals with the RSTS phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10699051" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 6 (28.6%) of 21 RSTS patients in whom no point mutations had been identified, <a href="#63" class="mim-tip-reference" title="Stef, M., Simon, D., Mardirossian, B., Delrue, M.-A., Burgelin, I., Hubert, C., Marche, M., Bonnet, F., Gorry, P., Longy, M., Lacombe, D., Coupry, I., Arveiler, B. &lt;strong&gt;Spectrum of CREBBP gene dosage anomalies in Rubinstein-Taybi syndrome patients.&lt;/strong&gt; Europ. J. Hum. Genet. 15: 843-847, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17473832/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17473832&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/sj.ejhg.5201847&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17473832">Stef et al. (2007)</a> used comparative genomic hybridization on microarrays and quantitative multiplex fluorescent-PCR to identify deletions involving the CREBBP gene. The deletions ranged in size from 3.3 kb to 6.5 Mb; 1 patient had a deleterious duplication containing exon 16. No phenotypic differences were observed, except for 1 patient with a 6.5-Mb deletion, who had a severe phenotype and died at 34 days of life. <a href="#63" class="mim-tip-reference" title="Stef, M., Simon, D., Mardirossian, B., Delrue, M.-A., Burgelin, I., Hubert, C., Marche, M., Bonnet, F., Gorry, P., Longy, M., Lacombe, D., Coupry, I., Arveiler, B. &lt;strong&gt;Spectrum of CREBBP gene dosage anomalies in Rubinstein-Taybi syndrome patients.&lt;/strong&gt; Europ. J. Hum. Genet. 15: 843-847, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17473832/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17473832&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/sj.ejhg.5201847&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17473832">Stef et al. (2007)</a> concluded that CREBBP dosage anomalies constitute a common cause of the disorder and recommended high-resolution gene dosage studies of the CREBBP gene in candidate patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17473832" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#23" class="mim-tip-reference" title="Gervasini, C., Castronovo, P., Bentivegna, A., Mottadelli, F., Faravelli, F., Giovannucci-Uzielli, M. L., Pessagno, A., Lucci-Cordisco, E., Pinto, A. M., Salviati, L., Selicorni, A., Tenconi, R., Neri, G., Larizza, L. &lt;strong&gt;High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints.&lt;/strong&gt; Genomics 90: 567-573, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17855048/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17855048&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ygeno.2007.07.012&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17855048">Gervasini et al. (2007)</a> used FISH and microsatellite analysis to screen 42 Italian RSTS patients, and identified deletions ranging in size from 150 kb to 2.6 Mb in 6 patients. Three of the patients were low-level mosaics, with the deletion present in less than 30% of lymphocytes and in less than 20% of epithelial cells analyzed. The authors stated that the clinical presentation was typical in all cases, but more severe in the 3 patients with constitutional deletions, and suggested that there may be underdiagnosis of a few cases of mild RSTS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17855048" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#68" class="mim-tip-reference" title="Stirt, J. A. &lt;strong&gt;Succinylcholine in Rubinstein-Taybi syndrome. (Letter)&lt;/strong&gt; Anesthesiology 57: 429, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7137629/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7137629&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1097/00000542-198211000-00025&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7137629">Stirt (1982)</a> warned of the risk of cardiac arrhythmia with use of succinylcholine in the Rubinstein-Taybi syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7137629" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#74" class="mim-tip-reference" title="Wiley, S., Swayne, S., Rubinstein, J. H., Lanphear, N. E., Stevens, C. A. &lt;strong&gt;Rubinstein-Taybi syndrome medical guidelines.&lt;/strong&gt; Am. J. Med. Genet. 119A: 101-110, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12749047/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;12749047&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.10009&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12749047">Wiley et al. (2003)</a> provided recommendations for specific surveillance and interventions to guide clinicians caring for individuals with RSTS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12749047" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#33" class="mim-tip-reference" title="Hennekam, R. C. M. &lt;strong&gt;Rubinstein-Taybi syndrome.&lt;/strong&gt; Europ. J. Hum. Genet. 14: 981-985, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16868563/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16868563&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/sj.ejhg.5201594&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16868563">Hennekam (2006)</a> provided a review of RSTS, including a diagnostic strategy, clinical management, and genetic counseling. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16868563" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="molecularGenetics" class="mim-anchor"></a>
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<p><a href="#51" class="mim-tip-reference" title="Petrij, F., Giles, R. H., Dauwerse, H. G., Saris, J. J., Hennekam, R. C. M., Masuno, M., Tommerup, N., van Ommen, G.-J. B., Goodman, R. H., Peters, D. J. M., Breuning, M. H. &lt;strong&gt;Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP.&lt;/strong&gt; Nature 376: 348-351, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7630403/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7630403&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/376348a0&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7630403">Petrij et al. (1995)</a> showed that the breakpoints at 16p13.3 demonstrated in patients with RSTS are all restricted to a region that contains the gene for the human CREB-binding protein (CREBBP; <a href="/entry/600140">600140</a>), a nuclear protein participating as a coactivator in cAMP-regulated gene expression. In patients with RSTS, <a href="#51" class="mim-tip-reference" title="Petrij, F., Giles, R. H., Dauwerse, H. G., Saris, J. J., Hennekam, R. C. M., Masuno, M., Tommerup, N., van Ommen, G.-J. B., Goodman, R. H., Peters, D. J. M., Breuning, M. H. &lt;strong&gt;Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP.&lt;/strong&gt; Nature 376: 348-351, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7630403/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7630403&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/376348a0&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7630403">Petrij et al. (1995)</a> identified heterozygous point mutations in the CREBBP gene (<a href="/entry/600140#0001">600140.0001</a>, <a href="/entry/600140#0002">600140.0002</a>), suggesting that the loss of one functional copy of the CREBBP gene underlies the developmental abnormalities in RSTS. <a href="#51" class="mim-tip-reference" title="Petrij, F., Giles, R. H., Dauwerse, H. G., Saris, J. J., Hennekam, R. C. M., Masuno, M., Tommerup, N., van Ommen, G.-J. B., Goodman, R. H., Peters, D. J. M., Breuning, M. H. &lt;strong&gt;Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP.&lt;/strong&gt; Nature 376: 348-351, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7630403/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7630403&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/376348a0&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7630403">Petrij et al. (1995)</a> suggested that the unusual incidence of neoplasms in RSTS, as well as the propensity to form keloids, may be explained by the role proposed for CREBBP in cAMP-regulated cell immortalization. The X-linked alpha-thalassemia/mental retardation syndrome (<a href="/entry/301040">301040</a>) is another example of multiple congenital malformations with mental retardation caused by a generalized dysregulation of gene expression. In that case, the mutation is located in the gene encoding X-linked helicase-2 (<a href="/entry/300032">300032</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7630403" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#55" class="mim-tip-reference" title="Roelfsema, J. H., White, S. J., Ariyurek, Y., Bartholdi, D., Niedrist, D., Papadia, F., Bacino, C. A., den Dunnen, J. T., van Ommen, G.-J. B., Breuning, M. H., Hennekam, R. C., Peters, D. J. M. &lt;strong&gt;Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.&lt;/strong&gt; Am. J. Hum. Genet. 76: 572-580, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15706485/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15706485&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=15706485[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/429130&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15706485">Roelfsema et al. (2005)</a> screened the entire CREBBP gene for mutations in 92 patients with RSTS and found 36 mutations. By using multiple ligation-dependent probe amplification, they found not only several deletions but also the first reported intragenic duplication in a patient with RSTS. Both CREBBP and EP300 (<a href="/entry/602700">602700</a>) function as transcriptional coactivators in the regulation of gene expression through various signal transduction pathways. Both are potent histone acetyltransferases. A certain level of CREBBP is essential for normal development, as indicated by the fact that inactivation of 1 allele causes RSTS. There is a direct link between loss of acetyltransferase activity and RSTS, which indicates that the disorder is caused by aberrant chromatin regulation. <a href="#55" class="mim-tip-reference" title="Roelfsema, J. H., White, S. J., Ariyurek, Y., Bartholdi, D., Niedrist, D., Papadia, F., Bacino, C. A., den Dunnen, J. T., van Ommen, G.-J. B., Breuning, M. H., Hennekam, R. C., Peters, D. J. M. &lt;strong&gt;Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.&lt;/strong&gt; Am. J. Hum. Genet. 76: 572-580, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15706485/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15706485&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=15706485[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/429130&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15706485">Roelfsema et al. (2005)</a> searched for mutations in the EP300 gene in patients with RSTS, identified 3 mutations (<a href="/entry/602700#0003">602700.0003</a>-<a href="/entry/602700#0005">602700.0005</a>), and stated that these were the first mutations found in EP300 as the basis of a congenital disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15706485" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using high resolution array comparative genomic hybridization (array CGH) targeting exons, <a href="#71" class="mim-tip-reference" title="Tsai, A. C.-H., Dossett, C. J., Walton, C. S., Cramer, A. E., Eng, P. A., Nowakowska, B. A., Pursley, A. N., Stankiewicz, P., Wiszniewska, J., Cheung, S. W. &lt;strong&gt;Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGH.&lt;/strong&gt; Europ. J. Hum. Genet. 19: 43-49, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20717166/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;20717166&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=20717166[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ejhg.2010.121&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="20717166">Tsai et al. (2011)</a> identified a de novo 5- to 6-kb deletion on chromosome 16p13.3 encompassing exons 27 and 28 of the CREBBP gene in a male infant with classic clinical features of RSTS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20717166" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using FISH and 3 cosmid probes, <a href="#6" class="mim-tip-reference" title="Bartsch, O., Wagner, A., Hinkel, G. K., Krebs, P., Stumm, M., Schmalenberger, B., Bohm, S., Balci, S., Majewski, F. &lt;strong&gt;FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy.&lt;/strong&gt; Europ. J. Hum. Genet. 7: 748-756, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10573006/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10573006&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/sj.ejhg.5200378&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10573006">Bartsch et al. (1999)</a> studied 45 Rubinstein-Taybi syndrome patients from Germany, the Czech Republic, Austria, and Turkey and found 4 deletions. This gave a frequency of deletions of 8.9%; when pooled with the data from previous studies, a frequency of 11% was found. All deletions were interstitial; 3 spanned the CREB-binding protein gene and 1 was smaller. The findings of <a href="#6" class="mim-tip-reference" title="Bartsch, O., Wagner, A., Hinkel, G. K., Krebs, P., Stumm, M., Schmalenberger, B., Bohm, S., Balci, S., Majewski, F. &lt;strong&gt;FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy.&lt;/strong&gt; Europ. J. Hum. Genet. 7: 748-756, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10573006/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10573006&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/sj.ejhg.5200378&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10573006">Bartsch et al. (1999)</a> suggested a more severe phenotype in these deletion cases. The mean age at presentation was 0.96 years in patients with a deletion as opposed to 11.12 years in those without. <a href="#6" class="mim-tip-reference" title="Bartsch, O., Wagner, A., Hinkel, G. K., Krebs, P., Stumm, M., Schmalenberger, B., Bohm, S., Balci, S., Majewski, F. &lt;strong&gt;FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy.&lt;/strong&gt; Europ. J. Hum. Genet. 7: 748-756, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10573006/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10573006&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/sj.ejhg.5200378&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10573006">Bartsch et al. (1999)</a> suggested that the 2 patients who died in infancy had a contiguous gene deletion syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10573006" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using a combination of FISH and multiple ligation-dependent probe amplification (MLPA) analysis, <a href="#60" class="mim-tip-reference" title="Rusconi, D., Negri, G., Colapietro, P., Picinelli, C., Milani, D., Spena, S., Magnani, C., Silengo, M. C., Sorasio, L., Curtisova, V., Cavaliere, M. L., Prontera, P., and 11 others. &lt;strong&gt;Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire.&lt;/strong&gt; Hum. Genet. 134: 613-626, 2015.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/25805166/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;25805166&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s00439-015-1542-9&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="25805166">Rusconi et al. (2015)</a> identified 14 different and novel CREBBP deletions in 14 of 171 patients with a clinical diagnosis of RSTS. The deletions, which accounted for 23% of detected CREBBP mutations in this cohort, ranged in size from 930 bp encompassing single exons to 1.35 Mb encompassing the whole gene and neighboring genes. Genotype/phenotype correlations indicated that patients with larger deletions did not always have a more severe phenotype than those with smaller deletions or point mutations, suggesting that the idea of a contiguous gene deletion syndrome in such patients, as proposed by <a href="#5" class="mim-tip-reference" title="Bartsch, O., Rasi, S., Delicado, A., Dyack, S., Neumann, L. M., Seemanova, E., Volleth, M., Haaf, T., Kalscheuer, V. M. &lt;strong&gt;Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome.&lt;/strong&gt; Hum. Genet 120: 179-186, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16783566/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16783566&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s00439-006-0215-0&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16783566">Bartsch et al. (2006)</a> (see <a href="/entry/610543">610543</a>), may not be accurate. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16783566+25805166" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#27" class="mim-tip-reference" title="Hendrich, B., Bickmore, W. &lt;strong&gt;Human diseases with underlying defects in chromatin structure and modification.&lt;/strong&gt; Hum. Molec. Genet. 10: 2233-2242, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11673406/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11673406&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/10.20.2233&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11673406">Hendrich and Bickmore (2001)</a> reviewed human disorders which share in common defects of chromatin structure or modification, including the ATR-X spectrum of disorders (<a href="/entry/301040">301040</a>), ICF syndrome (<a href="/entry/242860">242860</a>), Rett syndrome (<a href="/entry/312750">312750</a>), Rubinstein-Taybi syndrome, and Coffin-Lowry syndrome (<a href="/entry/303600">303600</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11673406" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#61" class="mim-tip-reference" title="Schorry, E. K., Keddache, M., Lanphear, N., Rubinstein, J. H., Srodulski, S., Fletcher, D., Blough-Pfau, R. I., Grabowski, G. A. &lt;strong&gt;Genotype-phenotype correlations in Rubinstein-Taybi syndrome.&lt;/strong&gt; Am. J. Med. Genet. 146A: 2512-2519, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18792986/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;18792986&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.32424&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="18792986">Schorry et al. (2008)</a> identified pathogenic mutations in the CREBBP gene in 52 (56%) of 93 patients meeting clinical diagnostic criteria for RSTS. Ten patients had single amino acid changes, 36 had truncating or splice site mutations, and 6 had microdeletions. The mutations were distributed throughout the gene. There were few phenotypic differences observed between patients grouped by different types of mutations, other than a trend toward increased severity of cognitive impairment and autistic features in patients with larger deletions. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18792986" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Population Genetics</strong>
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<p><a href="#49" class="mim-tip-reference" title="Padfield, C. J., Partington, M. W., Simpson, N. E. &lt;strong&gt;The Rubinstein-Taybi syndrome.&lt;/strong&gt; Arch. Dis. Child. 43: 94-101, 1968.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5642988/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;5642988&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/adc.43.227.94&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="5642988">Padfield et al. (1968)</a> estimated that the frequency of Rubinstein syndrome was 1 per 300-500 in institutionalized patients with mental retardation over age 5 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5642988" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Beets, L., Rodriguez-Fonseca, C., Hennekam, R. C. &lt;strong&gt;Growth charts for individuals with Rubinstein-Taybi syndrome.&lt;/strong&gt; Am. J. Med. Genet. 164A: 2300-2309, 2014.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/24989455/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;24989455&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.36654&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="24989455">Beets et al. (2014)</a> stated that the birth prevalence of Rubinstein-Taybi syndrome is 1 in 100,000-125,000. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24989455" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Although the acronym RTS is sometimes used for Rubinstein-Taybi syndrome, the use of this acronym for 2 other syndromes, Rothmund-Thomson syndrome (<a href="/entry/268400">268400</a>) and Rett syndrome, may lead to confusion; hence, use of the symbol RSTS is recommended.</p>
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<p><a href="#47" class="mim-tip-reference" title="Oike, Y., Hata, A., Mamiya, T., Kaname, T., Noda, Y., Suzuki, M., Yasue, H., Nabeshima, T., Araki, K., Yamamura, K. &lt;strong&gt;Truncated CBP protein leads to classical Rubinstein-Taybi syndrome phenotypes in mice: implications for a dominant-negative mechanism.&lt;/strong&gt; Hum. Molec. Genet. 8: 387-396, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9949198/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9949198&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/8.3.387&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9949198">Oike et al. (1999)</a> generated a mouse model of RSTS by an insertional mutation in the Cbp gene. Heterozygous mice that had truncated Cbp protein (residues 1 to 1084) containing the CREB-binding domain showed clinical features of RSTS, such as growth retardation (100%), retarded osseous maturation (100%), hypoplastic maxilla with narrow palate (100%), cardiac anomalies (15%), and skeletal abnormalities (7%). The authors concluded that the mutant truncated Cbp protein acted in a dominant-negative fashion to generate the RSTS phenotype in mice. Mutant mice performed poorly in passive avoidance and fear-conditioning tests, suggesting deficiency in long-term memory. Short-term memory appeared to be normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9949198" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#56" class="mim-tip-reference" title="Roy, F. H., Summitt, R. L., Hiatt, R. L., Hughes, J. G. &lt;strong&gt;Ocular manifestations of the Rubinstein-Taybi syndrome: case report and review of the literature.&lt;/strong&gt; Arch. Ophthal. 79: 272-278, 1968.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4966643/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;4966643&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archopht.1968.03850040274008&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="4966643">Roy et al. (1968)</a> suggested multifactorial inheritance in RSTS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4966643" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Since the CREB-binding protein is a critical coactivator for thyroid hormone receptors, <a href="#48" class="mim-tip-reference" title="Olson, D. P., Koenig, R. J. &lt;strong&gt;Thyroid function in Rubinstein-Taybi syndrome.&lt;/strong&gt; J. Clin. Endocr. Metab. 82: 3264-3266, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9329350/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9329350&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1210/jcem.82.10.4273&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9329350">Olson and Koenig (1997)</a> hypothesized that thyroid hormone resistance might occur in RSTS. To assess the function of the thyroid axis in RSTS, they measured free thyroxine (T4) and thyroid-stimulating hormone (TSH; see <a href="/entry/188540">188540</a>) in 12 affected subjects. Free T4 and TSH levels were normal in all 12 subjects, indicating that overt thyroid hormone resistance is not a typical feature of RSTS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9329350" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Coffin1964" class="mim-tip-reference" title="Coffin, G. S. &lt;strong&gt;Brachydactyly, peculiar facies and mental retardation.&lt;/strong&gt; Am. J. Dis. Child. 108: 351-359, 1964.">Coffin (1964)</a>; <a href="#Hennekam1990" class="mim-tip-reference" title="Hennekam, R. C. M., Van Doorne, J. M. &lt;strong&gt;Oral aspects of Rubinstein-Taybi syndrome.&lt;/strong&gt; Am. J. Med. Genet. Suppl. 6: 42-47, 1990.">Hennekam et al. (1990)</a>; <a href="#Kajii1981" class="mim-tip-reference" title="Kajii, T., Hagiwara, K., Tsukahara, M., Nakajima, H., Fukuda, Y. &lt;strong&gt;Monozygotic twins discordant for Rubinstein-Taybi syndrome.&lt;/strong&gt; J. Med. Genet. 18: 312-314, 1981.">Kajii et al. (1981)</a>; <a href="#Rubinstein1974" class="mim-tip-reference" title="Rubinstein, J. H. &lt;strong&gt;Fatherhood of the so-called Rubinstein-Taybi-syndrome.&lt;/strong&gt; Am. J. Dis. Child. 128: 424, 1974.">Rubinstein (1974)</a>; <a href="#Wessels1991" class="mim-tip-reference" title="Wessels, J. W., Mollevanger, P., Dauwerse, J. G., Cluitmans, F. H. M., Breuning, M. H., Beverstock, G. C. &lt;strong&gt;Two distinct loci on the short arm of chromosome 16 are involved in myeloid leukemia.&lt;/strong&gt; Blood 77: 1555-1559, 1991.">Wessels et al. (1991)</a>
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
<a id="Baraitser1983" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Baraitser, M., Preece, M. A.
<strong>The Rubinstein-Taybi syndrome: occurrence in two sets of identical twins.</strong>
Clin. Genet. 23: 318-320, 1983.
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[<a href="https://doi.org/10.1111/j.1399-0004.1983.tb01884.x" target="_blank">Full Text</a>]
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<a id="2" class="mim-anchor"></a>
<a id="Bartsch2010" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Bartsch, O., Kress, W., Kempf, O., Lechno, S., Haaf, T., Zechner, U.
<strong>Inheritance and variable expression in Rubinstein-Taybi syndrome.</strong>
Am. J. Med. Genet. 152A: 2254-2261, 2010.
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[<a href="https://doi.org/10.1002/ajmg.a.33598" target="_blank">Full Text</a>]
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<a id="3" class="mim-anchor"></a>
<a id="Bartsch2010" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Bartsch, O., Labonte, J., Albrecht, B., Wieczorek, D., Lechno, S., Zechner, U., Haaf, T.
<strong>Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome.</strong>
Am. J. Med. Genet. 152A: 181-184, 2010.
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[<a href="https://doi.org/10.1002/ajmg.a.33153" target="_blank">Full Text</a>]
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<a id="4" class="mim-anchor"></a>
<a id="Bartsch2002" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Bartsch, O., Locher, K., Meinecke, P., Kress, W., Seemanova, E., Wagner, A., Ostermann, K., Rodel, G.
<strong>Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP.</strong>
J. Med. Genet. 39: 496-501, 2002.
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[<a href="https://doi.org/10.1136/jmg.39.7.496" target="_blank">Full Text</a>]
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<a id="5" class="mim-anchor"></a>
<a id="Bartsch2006" class="mim-anchor"></a>
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<p class="mim-text-font">
Bartsch, O., Rasi, S., Delicado, A., Dyack, S., Neumann, L. M., Seemanova, E., Volleth, M., Haaf, T., Kalscheuer, V. M.
<strong>Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome.</strong>
Hum. Genet 120: 179-186, 2006.
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[<a href="https://doi.org/10.1007/s00439-006-0215-0" target="_blank">Full Text</a>]
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<a id="6" class="mim-anchor"></a>
<a id="Bartsch1999" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Bartsch, O., Wagner, A., Hinkel, G. K., Krebs, P., Stumm, M., Schmalenberger, B., Bohm, S., Balci, S., Majewski, F.
<strong>FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy.</strong>
Europ. J. Hum. Genet. 7: 748-756, 1999.
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[<a href="https://doi.org/10.1038/sj.ejhg.5200378" target="_blank">Full Text</a>]
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<a id="7" class="mim-anchor"></a>
<a id="Bazacliu1973" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Bazacliu, E., Tonceanu, S., Carp, G., Ghisoiu, V., Rosca, G. H., Rosca, S.
<strong>Rubinstein-Taybi syndrome with karyotype changes and recurring pneumopathy (original in Hungarian).</strong>
Ftziologia 22: 645-650, 1973.
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<a id="Beets2014" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Beets, L., Rodriguez-Fonseca, C., Hennekam, R. C.
<strong>Growth charts for individuals with Rubinstein-Taybi syndrome.</strong>
Am. J. Med. Genet. 164A: 2300-2309, 2014.
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[<a href="https://doi.org/10.1002/ajmg.a.36654" target="_blank">Full Text</a>]
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<a id="9" class="mim-anchor"></a>
<a id="Berry1987" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Berry, A. C.
<strong>Rubinstein-Taybi syndrome.</strong>
J. Med. Genet. 24: 562-566, 1987.
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[<a href="https://doi.org/10.1136/jmg.24.9.562" target="_blank">Full Text</a>]
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<a id="10" class="mim-anchor"></a>
<a id="Bloch-Zupan2007" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Bloch-Zupan, A., Stachtou, J., Emmanouil, D., Arveiler, B., Griffiths, D., Lacombe, D.
<strong>Oro-dental features as useful diagnostic tool in Rubinstein-Taybi syndrome.</strong>
Am. J. Med. Genet. 143A: 570-573, 2007.
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[<a href="https://doi.org/10.1002/ajmg.a.31622" target="_blank">Full Text</a>]
</p>
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<a id="11" class="mim-anchor"></a>
<a id="Bonioli1993" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Bonioli, E., Bellini, C., Senes, F. M., Palmieri, A., Di Stadio, M., Pinelli, G.
<strong>Slipped capital femoral epiphysis associated with Rubinstein-Taybi syndrome.</strong>
Clin. Genet. 44: 79-81, 1993.
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[<a href="https://doi.org/10.1111/j.1399-0004.1993.tb03851.x" target="_blank">Full Text</a>]
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<a id="12" class="mim-anchor"></a>
<a id="Bonioli1989" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Bonioli, E., Bellini, C.
<strong>Inheritance of Rubinstein-Taybi syndrome. (Letter)</strong>
Am. J. Med. Genet. 32: 559 only, 1989.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2774008/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2774008</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2774008" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320320433" target="_blank">Full Text</a>]
</p>
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<a id="13" class="mim-anchor"></a>
<a id="Bonioli1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Bonioli, E., Bellini, C.
<strong>Rubinstein-Taybi syndrome and pheochromocytoma. (Letter)</strong>
Am. J. Med. Genet. 44: 386 only, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1488992/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1488992</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1488992" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320440325" target="_blank">Full Text</a>]
</p>
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<a id="14" class="mim-anchor"></a>
<a id="Breuning1993" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Breuning, M. H., Dauwerse, H. G., Fugazza, G., Saris, J. J., Spruit, L., Wijnen, H., Tommerup, N., van der Hagen, C. B., Imaizumi, K., Kuroki, Y., van den Boogaard, M.-J., de Pater, J. M., Mariman, E. C. M., Hamel, B. C. J., Himmelbauer, H., Frischauf, A.-M., Stallings, R. L., Beverstock, G. C., van Ommen, G.-J. B., Hennekam, R. C. M.
<strong>Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3.</strong>
Am. J. Hum. Genet. 52: 249-254, 1993.
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</p>
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<a id="Caksen2009" class="mim-anchor"></a>
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<p class="mim-text-font">
Caksen, H., Bartsch, O., Okur, M., Temel, H., Acikgoz, M., Yilmaz, C.
<strong>Rubinstein-Taybi syndrome and CREBBP c.201_202delTA mutation: a case presenting with varicella meningoencephalitis.</strong>
Genet. Counsel. 20: 255-260, 2009.
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</p>
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<a id="16" class="mim-anchor"></a>
<a id="Chun1992" class="mim-anchor"></a>
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<p class="mim-text-font">
Chun, K., Colombani, P. M., Dudgeon, D. L., Haller, J. A., Jr.
<strong>Diagnosis and management of congenital vascular rings: a 22-year experience.</strong>
Ann. Thorac. Surg. 53: 597-603, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1554267/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1554267</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1554267" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0003-4975(92)90317-w" target="_blank">Full Text</a>]
</p>
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<a id="17" class="mim-anchor"></a>
<a id="Coffin1964" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Coffin, G. S.
<strong>Brachydactyly, peculiar facies and mental retardation.</strong>
Am. J. Dis. Child. 108: 351-359, 1964.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14186654/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14186654</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14186654" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1001/archpedi.1964.02090010353004" target="_blank">Full Text</a>]
</p>
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<a id="18" class="mim-anchor"></a>
<a id="Cotsirilos1987" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Cotsirilos, P., Taylor, J. C., Matalon, R.
<strong>Dominant inheritance of a syndrome similar to Rubinstein-Taybi.</strong>
Am. J. Med. Genet. 26: 85-93, 1987.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3812583/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3812583</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3812583" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320260115" target="_blank">Full Text</a>]
</p>
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<a id="19" class="mim-anchor"></a>
<a id="Davis1986" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Davis, P. J., Brook, A. H.
<strong>The presentation of talon cusp: diagnosis, clinical features, associations and possible aetiology.</strong>
Brit. Dent. J. 160: 84-88, 1986.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3456236/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3456236</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3456236" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/sj.bdj.4805774" target="_blank">Full Text</a>]
</p>
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<a id="20" class="mim-anchor"></a>
<a id="Der Kaloustian1972" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Der Kaloustian, V. M., Afifi, A. K., Sinno, A. A., Mire, J.
<strong>The Rubinstein-Taybi syndrome: clinical and muscle electron microscopic study.</strong>
Am. J. Dis. Child. 124: 897-902, 1972.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4118155/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4118155</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4118155" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1001/archpedi.1972.02110180099014" target="_blank">Full Text</a>]
</p>
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<a id="21" class="mim-anchor"></a>
<a id="Garcia1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Garcia, D., Karasik, J., Marion, R.
<strong>Apparent dominant transmission of Rubinstein-Taybi syndrome (RTS). (Abstract)</strong>
Am. J. Hum. Genet. 51 (suppl.): A95, 1992.
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<a id="Gardner1979" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Gardner, D. G., Girgis, S. S.
<strong>Talon cusps: a dental anomaly in the Rubinstein-Taybi syndrome.</strong>
Oral Surg. Oral Med. Oral Path. 47: 519-521, 1979.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/286273/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">286273</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=286273" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0030-4220(79)90274-3" target="_blank">Full Text</a>]
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<a id="Gervasini2007" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Gervasini, C., Castronovo, P., Bentivegna, A., Mottadelli, F., Faravelli, F., Giovannucci-Uzielli, M. L., Pessagno, A., Lucci-Cordisco, E., Pinto, A. M., Salviati, L., Selicorni, A., Tenconi, R., Neri, G., Larizza, L.
<strong>High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints.</strong>
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[<a href="https://doi.org/10.1016/j.ygeno.2007.07.012" target="_blank">Full Text</a>]
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<a id="24" class="mim-anchor"></a>
<a id="Gillies1985" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Gillies, D. R. N., Roussounis, S. H.
<strong>Rubinstein-Taybi syndrome: further evidence of a genetic aetiology.</strong>
Dev. Med. Child Neurol. 27: 751-755, 1985.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4092848/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4092848</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4092848" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1469-8749.1985.tb03799.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archpedi.1967.02090170071004" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320430604" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/10.20.2233" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00595907" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/sj.ejhg.5201594" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320380430" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.18.4.312" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.29.9.669" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.10297" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320440134" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320460309" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320530409" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320560125" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.2500/aap.2006.27.2864" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/8.3.387" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1210/jcem.82.10.4273" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/adc.43.227.94" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.37.3.168" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/376348a0" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00287159" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1995.tb04058.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320450602" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1086/429130" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archopht.1968.03850040274008" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archpedi.1963.02080040590010" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archpedi.1974.02110280154029" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/s00439-015-1542-9" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.32424" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1995.tb04119.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/sj.ejhg.5201847" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320590313" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.34058" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1097/00000542-198211000-00025" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320440223" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1983.tb00434.x" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 7/2/2015
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Marla J. F. O'Neill - updated : 2/15/2012<br>Cassandra L. Kniffin - updated : 1/10/2012<br>Cassandra L. Kniffin - updated : 10/13/2011<br>Cassandra L. Kniffin - updated : 6/20/2011<br>Cassandra L. Kniffin - updated : 1/6/2011<br>Cassandra L. Kniffin - updated : 4/2/2010<br>Marla J. F. O'Neill - updated : 10/30/2009<br>Cassandra L. Kniffin - updated : 4/15/2009<br>Marla J. F. O'Neill - updated : 12/21/2007<br>Cassandra L. Kniffin - updated : 8/13/2007<br>Cassandra L. Kniffin - updated : 6/22/2007<br>Cassandra L. Kniffin - updated : 4/11/2007<br>Cassandra L. Kniffin - updated : 9/29/2006<br>Marla J. F. O'Neill - updated : 10/6/2005<br>Victor A. McKusick - updated : 3/11/2005<br>Cassandra L. Kniffin - reorganized : 11/19/2003<br>Cassandra L. Kniffin - updated : 11/13/2003<br>Victor A. McKusick - updated : 4/29/2002<br>George E. Tiller - updated : 2/12/2002<br>Victor A. McKusick - updated : 9/21/2000<br>Michael J. Wright - updated : 8/10/2000<br>Victor A. McKusick - updated : 11/24/1999<br>Victor A. McKusick - updated : 4/22/1999<br>John A. Phillips, III - updated : 12/25/1997<br>Victor A. McKusick - updated : 10/20/1997<br>Victor A. McKusick - updated : 4/21/1997<br>Iosif W. Lurie - updated : 7/26/1996
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Victor A. McKusick : 10/22/1990
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alopez : 05/14/2019
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carol : 01/18/2018<br>carol : 01/17/2018<br>carol : 08/31/2016<br>carol : 07/07/2015<br>mcolton : 7/6/2015<br>ckniffin : 7/2/2015<br>carol : 3/10/2015<br>terry : 4/9/2012<br>carol : 2/15/2012<br>terry : 2/15/2012<br>carol : 1/13/2012<br>ckniffin : 1/10/2012<br>carol : 10/14/2011<br>ckniffin : 10/13/2011<br>wwang : 7/1/2011<br>ckniffin : 6/20/2011<br>wwang : 1/24/2011<br>ckniffin : 1/6/2011<br>wwang : 4/7/2010<br>ckniffin : 4/2/2010<br>ckniffin : 4/2/2010<br>carol : 11/5/2009<br>terry : 10/30/2009<br>wwang : 5/6/2009<br>ckniffin : 4/15/2009<br>wwang : 12/26/2007<br>terry : 12/21/2007<br>wwang : 8/23/2007<br>ckniffin : 8/13/2007<br>wwang : 7/2/2007<br>ckniffin : 6/22/2007<br>wwang : 4/13/2007<br>ckniffin : 4/11/2007<br>wwang : 11/7/2006<br>ckniffin : 11/2/2006<br>wwang : 10/2/2006<br>ckniffin : 9/29/2006<br>wwang : 10/18/2005<br>terry : 10/6/2005<br>wwang : 3/18/2005<br>wwang : 3/14/2005<br>terry : 3/11/2005<br>carol : 1/26/2005<br>ckniffin : 11/24/2003<br>ckniffin : 11/24/2003<br>carol : 11/19/2003<br>carol : 11/19/2003<br>ckniffin : 11/13/2003<br>cwells : 10/9/2003<br>mgross : 12/10/2002<br>cwells : 5/28/2002<br>cwells : 5/16/2002<br>terry : 4/29/2002<br>cwells : 2/18/2002<br>cwells : 2/18/2002<br>cwells : 2/12/2002<br>terry : 3/20/2001<br>carol : 9/21/2000<br>alopez : 8/10/2000<br>carol : 11/29/1999<br>terry : 11/24/1999<br>alopez : 5/3/1999<br>terry : 4/22/1999<br>alopez : 3/8/1999<br>dkim : 12/8/1998<br>carol : 11/30/1998<br>carol : 10/29/1998<br>carol : 10/28/1998<br>alopez : 1/23/1998<br>alopez : 1/22/1998<br>alopez : 1/22/1998<br>alopez : 1/22/1998<br>mark : 11/4/1997<br>jenny : 10/21/1997<br>terry : 10/20/1997<br>mark : 7/3/1997<br>alopez : 4/21/1997<br>alopez : 4/17/1997<br>alopez : 4/17/1997<br>terry : 4/11/1997<br>carol : 7/26/1996<br>terry : 3/26/1996<br>mark : 3/21/1996<br>terry : 3/13/1996<br>mark : 3/12/1996<br>mark : 1/9/1996<br>mark : 12/20/1995<br>terry : 12/13/1995<br>mark : 9/19/1995<br>terry : 7/28/1995<br>mimadm : 3/25/1995<br>carol : 1/3/1995<br>davew : 8/17/1994<br>carol : 11/18/1993
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<strong>#</strong> 180849
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RUBINSTEIN-TAYBI SYNDROME 1; RSTS1
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<em>Alternative titles; symbols</em>
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RSTS<br />
RUBINSTEIN SYNDROME<br />
BROAD THUMBS AND GREAT TOES, CHARACTERISTIC FACIES, AND MENTAL RETARDATION<br />
BROAD THUMB-HALLUX SYNDROME
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<strong>SNOMEDCT:</strong> 45582004; &nbsp;
<strong>ICD10CM:</strong> Q87.2; &nbsp;
<strong>ORPHA:</strong> 353277, 783; &nbsp;
<strong>DO:</strong> 1933; &nbsp;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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16p13.3
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Rubinstein-Taybi syndrome 1
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180849
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Autosomal dominant
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3
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CREBBP
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600140
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because Rubinstein-Taybi syndrome-1 (RSTS1) is caused by heterozygous mutation in the gene encoding the transcriptional coactivator CREB-binding protein (CREBBP; 600140) on chromosome 16p13.</p>
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<strong>Description</strong>
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<p>Rubinstein-Taybi syndrome is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features. The facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly arched palate, mild micrognathia, and characteristic grimacing or abnormal smile. Affected individuals also have an increased risk of tumor formation (Rubinstein and Taybi, 1963; review by Hennekam, 2006). </p><p>Floating-Harbor syndrome (136140), which shows phenotypic overlap with Rubinstein-Taybi syndrome, is caused by mutation in the SRCAP gene (611421), a coactivator for CREBBP.</p><p><strong><em>Genetic Heterogeneity of Rubinstein-Taybi Syndrome</em></strong></p><p>
Rubinstein-Taybi syndrome-1 (RSTS1) constitutes about 50 to 70% of patients with the disorder. Rubinstein-Taybi syndrome-2 (RSTS2; 613684) comprises about 3% of patients and is primarily due to de novo heterozygous mutation in the EP300 gene (602700) on chromosome 22q13 (Bartsch et al., 2010). </p><p>See also chromosome 16p13.3 deletion syndrome (610543), a severe form of Rubinstein-Taybi syndrome resulting from a contiguous gene deletion involving the CREBBP gene as well as other neighboring genes.</p>
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<strong>Clinical Features</strong>
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<p>Rubinstein and Taybi (1963) reported a syndrome characterized by mental retardation, broad thumbs and toes, and facial abnormalities. Rubinstein (1969) found parental age to be about average. Levy (1976) described juvenile glaucoma in RSTS and McKusick (1968) observed congenital glaucoma. Talon cusps were reported in nearly 90% of patients with Rubinstein-Taybi syndrome by Gardner and Girgis (1979) and Davis and Brook (1986). Bonioli and Bellini (1992) reported the association of RSTS with pheochromocytoma in a 7-year-old girl. </p><p>Hennekam et al. (1990) reported that among 45 RSTS patients in the Netherlands, all had broad halluces but only 39 had broad thumbs. Persistent fetal pads of the fingers, shawl scrotum, and frequent fractures were found in several patients. Constipation was a problem, and easily collapsible laryngeal walls caused difficulties in sleep and anesthesia. Hennekam and Van Doorne (1990) commented on short upper lip and pouting lower lip, a feature documented in many photographs by Hennekam et al. (1990). A high, slit-like palate was also noted. Lowry (1990) discussed the phenotypic overlap with the Saethre-Chotzen syndrome (101400).</p><p>Guion-Almeida and Richieri-Costa (1992) described agenesis of the corpus callosum, iris coloboma, and megacolon in a boy with RSTS. Kanjilal et al. (1992) described pulmonary hypertension, mitral valve regurgitation, and patent ductus arteriosus as well as hypoplastic right kidney in a 3-month-old child with delayed motor and mental development corresponding to that of a 1-month-old infant. Shashi and Fryburg (1995) described mediastinal vascular ring causing tracheoesophageal obstruction with respiratory symptoms and dysphagia in a child with RSTS. The patient had a remarkable improvement in swallowing ability after surgery and some decrease in the frequency of respiratory infections. Chun et al. (1992) had reported 1 case of RSTS among their large series of cases of vascular rings at Johns Hopkins. </p><p>Stevens and Bhakta (1995) evaluated cardiac abnormalities with a questionnaire survey. Of 138 patients in the study, 45 (32.6%) had a known cardiac abnormality; 27 patients had single defects, including atrial septal defect, ventricular septal defect, patent ductus arteriosus (see 607411), coarctation of the aorta, pulmonic stenosis, or bicuspid aortic valve. In 8 of these individuals the problem resolved spontaneously, while 8 required surgery. Complex congenital heart defects of 2 or more abnormalities were present in 16 patients; 2 of these patients had spontaneous resolution, while 7 required surgery. Surgery was planned in 5 additional patients. It is noteworthy that pulmonic stenosis was present in only 1 patient as an isolated finding. </p><p>Miller and Rubinstein (1995) noted that patients with RSTS have an increased risk of tumor formation. Among over 700 patients, 17 had malignant tumors and 19 had benign tumors. Twelve of the tumors were located in the nervous system, including oligodendroglioma, medulloblastoma, neuroblastoma, and meningioma. Other tumor types included rhabdomyosarcoma and leukemias, among others. Miller and Rubinstein (1995) suggested that about 5% of RSTS patients develop a neoplasm, which is similar to the frequency of neoplasm in neurofibromatosis type I (162200). </p><p>Bonioli et al. (1993) described the association of RSTS with slipped capital femoral epiphysis in a 10-year-old girl. Stevens (1997) described 11 patients with RSTS and patellar dislocation. The age at diagnosis of patellar dislocation ranged from birth to 16 years. Chronic dislocations were present in 10 patients, and 8 of 11 had bilateral patellar dislocation. Surgical stabilization of the patella was required in 8 patients; most achieved a good outcome with surgical repair. All families reported that the patellar dislocations impaired developmental skills, which improved after surgery. Other joint abnormalities, including congenital dislocations and laxity of joints, were described in 7 of the 11 patients. </p><p>Ihara et al. (1999) suggested that premature thelarche (breast development) may not be uncommon in girls with RSTS. They reported breast development at age 6 years in a girl who had been found at the age of 6 months to have a neuroblastoma on a nationwide neuroblastoma screening program and had been surgically treated with a favorable clinical course. Among 12 girls with RSTS, Kurosawa et al. (2002) observed 2 with premature thelarche, and a third with premature thelarche and genital bleeding. </p><p>Naimi et al. (2006) reported 3 unrelated patients with RSTS who had recurrent upper and lower respiratory infections and otitis media associated with defective antibody response to polysaccharide antigens. One of the 3 also had decreased numbers of T cells. One patient responded well to IgG therapy. The authors suggested that some patients with RSTS may have a primary immunodeficiency, which may explain the increased rate of respiratory infections in these patients. </p><p>Bloch-Zupan et al. (2007) reported detailed orodental features of 40 patients with RSTS ranging in age from 4 to 30 years. Nondental oral findings included small mouth, thin upper lip, micrognathia, retrognathia, narrow maxilla, high-arched and narrow palate, wide alveolar ridges, and enlarged tonsils. Dental anomalies included anomalies of tooth number, talon cusps, screwdriver permanent incisors, enamel hypoplasia/discoloration, enamel wear, tooth crowding, and crossbite. Many patients had gastroesophageal reflux, which may have contributed to enamel wear. Timing of tooth eruption was usually normal. Bloch-Zupan et al. (2007) noted that dental anomalies may aid in the diagnosis of RSTS. </p><p>Caksen et al. (2009) reported an 8-month-old boy with genetically confirmed RSTS who presented with varicella meningoencephalitis. The authors postulated a primary immune deficiency in this child. </p><p>Stevens et al. (2011) reported the results of a questionnaire-based study of 61 adults with RSTS ranging in age from 18 to 67 years (average, 28.5 years). The average height in men was 158.5 cm and in women 150.1 cm. Many were overweight (25%), obese (33%), or morbidly obese (8%). The most commonly reported medical problems were visual difficulties (79%), including need for glasses (80%), strabismus (33%), glaucoma (11%), and cataracts (7%). Other problems included keloids (57%), eating problems (53%), spinal curvature (49%), joint laxity (46%), and dental problems (80%). All had moderate mental retardation, but most achieved some independence for self-care and many were in supported work situations. Most (69%) lived with their parents, but others lived in group homes (21%) or supervised apartments (5%). Many had behavioral problems, such as poor attention span and autistic features, and worsening of behavior over time was reported in about 37%. Very few of the participants were seeing a geneticist as an adult. </p><p>Beets et al. (2014) provided growth charts for individuals with Rubinstein-Taybi syndrome, which were based on individuals with a molecularly proven diagnosis. </p><p><strong><em>Incomplete Rubinstein-Taybi Syndrome</em></strong></p><p>
Cotsirilos et al. (1987) described 2 sibs and their mother with a syndrome that they reported as similar to Rubinstein-Taybi syndrome. All 3 individuals, who appeared to be of normal intelligence, had broad terminal phalanges of the thumbs and the great toes, antimongoloid slant of the palpebral fissures, and characteristic facial appearance with beaked nose. Four sibs of the mother as well as 2 other members of the kindred were said to have broad thumbs. There were no instances of male-to-male transmission. Autosomal or X-linked dominant inheritance was suggested. Bonioli and Bellini (1989) reported a family in which 4 relatives of a full-blown case of Rubinstein-Taybi syndrome had broad thumbs, apparently inherited as a dominant trait with incomplete penetrance. </p><p>Bartsch et al. (2002) reported a girl with a mild variant of RSTS. Her face was round and slightly dysmorphic with intermittent exotropia, subtle ptosis, a beaked nose, and dorsally rotated ears. Her hands showed broad thumbs with brachytelephalangism, and her feet had broad big toes. Although she had low intellectual function, she was not mentally retarded. Genetic analysis revealed a missense mutation in the CREBBP gene (600140.0005), confirming that the phenotype is consistent with 'incomplete' RSTS. Bartsch et al. (2002) concluded that mild alleles or modifying factors can lead to incomplete RSTS, and suggested that the Rubinstein-like syndrome described by Cotsirilos et al. (1987) and Bonioli and Bellini (1989) can be equated with incomplete RSTS. </p><p>Bartsch et al. (2010) reported a 3-generation German family with incomplete RSTS, including a 12-year-old female proband, her mother, and the maternal grandmother. The proband had mild dysmorphic features, such as high-arched eyebrows, elongated face, prominent nose, high-arched palate, short broad thumbs, and broad halluces. She had a short attention span, dyslexia, dyscalculia, reading difficulties, and needed special teaching in language and mathematics. Her mother had similar facial features, was mildly obese, and had normal intelligence. The grandmother reportedly had a similar appearance and had not finished school. </p>
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<strong>Inheritance</strong>
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<p>The vast majority (about 99%) of cases of Rubinstein-Taybi syndrome occur sporadically resulting from de novo heterozygous mutations; vertical transmission is extremely rare but has been reported (summary by Bartsch et al., 2010). </p><p>Padfield et al. (1968) studied 17 patients with RSTS and found none of 50 sibs affected. Pfeifer (1968) described the syndrome in only 1 of presumably monozygotic twins. Baraitser and Preece (1983), on the other hand, reported the Rubinstein syndrome in all 4 members of 2 pairs of monozygotic twins. </p><p>Der Kaloustian et al. (1972) described affected brother and sister from consanguineous parents. However, whereas the facies was characteristic, broad first digits were absent clinically and questionable radiographically. Gillies and Roussounis (1985) reported 2 families: in one, 2 sibs were affected; in the other, the uncle of the index case was affected and other members of the family were judged to show varying degrees of expression of the disorder. </p><p>Stevens et al. (1990) found no second cases among the 91 sibs of 50 probands.</p><p>Hennekam et al. (1989) described this disorder in mother and son, consistent with autosomal dominant inheritance. The mother's IQ was estimated to be about 65. </p><p>Garcia et al. (1992) and Marion et al. (1993) reported 2 different cases of mother and daughter with RSTS. In one of these families, the mother had attended special education classes and had dropped out of school in the eleventh grade. </p><p>Hennekam et al. (1990) reviewed data on 502 cases. In 12 of 13 proven or possible monozygotic twins, both children were affected. Two patients had reproduced, with 1 affected and 2 normal offspring. They found 1 recurrence among 708 sibs of 502 probands. From this information and the scarcity of affected sibs reported in the literature, they suggested that the recurrence risk figure for sibs is on the order of 0.1%, lower than the figure of 1.0% suggested by Berry (1987) for use in genetic counseling. The recurrence risk for offspring of affected persons may be 50%. Hennekam et al. (1990) favored an autosomal dominant mutation as the most likely cause. Robinson et al. (1993) reported another set of monozygotic twins concordant for RSTS. Preis and Majewski (1995) reported monozygotic twin sisters concordant for RSTS diagnosed at the age of 10 weeks. They commented that the typical features of the syndrome increasingly developed in early infancy toward the total 'Gestalt' by the age of 2 years. </p><p>Bartsch et al. (2010) reported a German family in which the female proband, her mother, and her maternal grandmother all had incomplete RSTS associated with a heterozygous mutation in the CREBBP gene (T910A; 600140.0008). The 12-year-old proband had a more severe phenotype despite her mother and maternal grandmother carrying the same mutation. The findings were consistent with autosomal dominant inheritance of RSTS and indicated that in cases of inherited RSTS, affected children tend to have a more severe phenotype. Bartsch et al. (2010) reported a second German family in which 3 sisters had RSTS with facial abnormalities, broad thumbs and great toes, and developmental delay. They were diagnosed at ages 11, 6, and 5 years, respectively. One developed a slow growing ganglioglioma of the brain at age 2. The father had broad thumbs and attended basic secondary school and worked as an unskilled laborer; he was clinically suspected of having mild or incomplete RSTS. Genetic analysis identified a heterozygous splice site mutation in the CREBBP gene in the 3 girls, and somatic mosaicism for the mutation in the father. Based on their patients and a review of the literature of familial occurrence of RSTS, Bartsch et al. (2010) estimated a recurrence risk of 0.5 to 1.0% for parents of an affected child. </p>
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<strong>Cytogenetics</strong>
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<p>The dermatoglyphic changes described by Giroux and Miller (1967) suggested a chromosomal abnormality. In 8 cases of RSTS, Wulfsberg et al. (1983) could demonstrate no abnormality by high resolution cytogenetics, but Berry (1987) reviewed the etiogenetic basis and concluded that microdeletion is most likely. </p><p>Imaizumi and Kuroki (1991) observed a sporadic case of Rubinstein-Taybi syndrome with de novo reciprocal translocation t(2;16)(p13.3;p13.3). Noting that Bazacliu et al. (1973) had reported a patient with RSTS and a deletion of chromosome 2, Imaizumi and Kuroki (1991) suggested that the RSTS gene may be at 2p13.3 rather than at 16p13.3. During a systematic chromosomal survey of 7 unrelated patients with Rubinstein-Taybi syndrome, Tommerup et al. (1991, 1992) found an apparently balanced de novo reciprocal translocation, t(7;16)(q34;p13.3), in an affected boy. The breakpoint in chromosome 16 involved the same subband p13.3 as was observed in a 2;16 translocation by Imaizumi and Kuroki (1991). Lacombe et al. (1992) provided confirmation for the assignment of the RSTS gene to 16p13.3. A 2-month-old girl with typical features showed a de novo pericentric inversion of one chromosome 16; her karyotype was 46,XX,inv(16)(p13.3;q13). </p><p>In a large collaborative study, Breuning et al. (1993) investigated the region of 16p13.3 where 2 distinct reciprocal translocations occurred in patients with a clinical diagnosis of RSTS. The breakpoints lay between the cosmids N2 and RT1. Using 2-color fluorescence in situ hybridization, Breuning et al. (1993) demonstrated that the signal from RT1 was missing from 1 chromosome 16 in 6 of 24 patients with RSTS. The parents of 5 of these patients did not show a deletion of RT1, indicating a de novo rearrangement. They estimated that RSTS is caused by submicroscopic interstitial deletions within 16p13.3 in approximately one-fourth of patients. </p><p>By molecular studies, Hennekam et al. (1993) found a copy of chromosome 16 from each parent in all 19 patients with RSTS studied. Uniparental disomy was also excluded for 5 other chromosome arms known to be imprinted in mice. Clinical features were essentially the same in patients with or without visible deletions, with a possible exception for the incidence of microcephaly, angulation of thumbs and halluces, and partial duplication of the halluces ('big toes'). Masuno et al. (1994) screened 25 Japanese patients with RSTS for microdeletions using high-resolution GTG banding and fluorescence in situ hybridization with a cosmid probe (RT1, D16S237). In 1 patient, a microdeletion was demonstrated by in situ hybridization, but none was detected by high-resolution banding. </p>
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<strong>Diagnosis</strong>
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</div>
<span class="mim-text-font">
<p>Wallerstein et al. (1997) used the RT1 probe to screen 64 patients with clinical evidence of RSTS; 7 (11%) had a deletion. Another patient had a translocation involving the region without evidence of deletion. The features of coloboma, growth retardation, nevus flammeus, and hypotonia had a positive predictive value for the presence of an RT1 deletion. The authors commented that because of the relatively low frequency of deletions in RSTS, the RT1 probe is useful in diagnostic confirmation but has limited use as a screening tool. </p><p>Petrij et al. (2000) reported diagnostic analysis of 194 patients with RSTS. Of these, 86 had previously been reported. A total of 157 individuals were tested by FISH, 23 by protein truncation test and 14 by both methods for microdeletions and truncating mutations in CBP. Fourteen of 171 (8.2%) patients had microdeletions, and truncating mutations were found in 4 of 37 (10.8%) cases. Eighty-nine of the 171 were tested using 5 cosmid probes: RT1, RT100, RT102, RT191, RT203 and RT166. Eight microdeletions were found in this group, of which 4 were not deleted for RT1/RT100. Petrij et al. (2000) concluded that the use of all 5 probes is essential to detect all microdeletions in patients with clinical features of RSTS, and stated that microdeletions and truncating mutations in CBP account for approximately 20% of mutations in individuals with the RSTS phenotype. </p><p>In 6 (28.6%) of 21 RSTS patients in whom no point mutations had been identified, Stef et al. (2007) used comparative genomic hybridization on microarrays and quantitative multiplex fluorescent-PCR to identify deletions involving the CREBBP gene. The deletions ranged in size from 3.3 kb to 6.5 Mb; 1 patient had a deleterious duplication containing exon 16. No phenotypic differences were observed, except for 1 patient with a 6.5-Mb deletion, who had a severe phenotype and died at 34 days of life. Stef et al. (2007) concluded that CREBBP dosage anomalies constitute a common cause of the disorder and recommended high-resolution gene dosage studies of the CREBBP gene in candidate patients. </p><p>Gervasini et al. (2007) used FISH and microsatellite analysis to screen 42 Italian RSTS patients, and identified deletions ranging in size from 150 kb to 2.6 Mb in 6 patients. Three of the patients were low-level mosaics, with the deletion present in less than 30% of lymphocytes and in less than 20% of epithelial cells analyzed. The authors stated that the clinical presentation was typical in all cases, but more severe in the 3 patients with constitutional deletions, and suggested that there may be underdiagnosis of a few cases of mild RSTS. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Clinical Management</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Stirt (1982) warned of the risk of cardiac arrhythmia with use of succinylcholine in the Rubinstein-Taybi syndrome. </p><p>Wiley et al. (2003) provided recommendations for specific surveillance and interventions to guide clinicians caring for individuals with RSTS. </p><p>Hennekam (2006) provided a review of RSTS, including a diagnostic strategy, clinical management, and genetic counseling. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Petrij et al. (1995) showed that the breakpoints at 16p13.3 demonstrated in patients with RSTS are all restricted to a region that contains the gene for the human CREB-binding protein (CREBBP; 600140), a nuclear protein participating as a coactivator in cAMP-regulated gene expression. In patients with RSTS, Petrij et al. (1995) identified heterozygous point mutations in the CREBBP gene (600140.0001, 600140.0002), suggesting that the loss of one functional copy of the CREBBP gene underlies the developmental abnormalities in RSTS. Petrij et al. (1995) suggested that the unusual incidence of neoplasms in RSTS, as well as the propensity to form keloids, may be explained by the role proposed for CREBBP in cAMP-regulated cell immortalization. The X-linked alpha-thalassemia/mental retardation syndrome (301040) is another example of multiple congenital malformations with mental retardation caused by a generalized dysregulation of gene expression. In that case, the mutation is located in the gene encoding X-linked helicase-2 (300032). </p><p>Roelfsema et al. (2005) screened the entire CREBBP gene for mutations in 92 patients with RSTS and found 36 mutations. By using multiple ligation-dependent probe amplification, they found not only several deletions but also the first reported intragenic duplication in a patient with RSTS. Both CREBBP and EP300 (602700) function as transcriptional coactivators in the regulation of gene expression through various signal transduction pathways. Both are potent histone acetyltransferases. A certain level of CREBBP is essential for normal development, as indicated by the fact that inactivation of 1 allele causes RSTS. There is a direct link between loss of acetyltransferase activity and RSTS, which indicates that the disorder is caused by aberrant chromatin regulation. Roelfsema et al. (2005) searched for mutations in the EP300 gene in patients with RSTS, identified 3 mutations (602700.0003-602700.0005), and stated that these were the first mutations found in EP300 as the basis of a congenital disorder. </p><p>Using high resolution array comparative genomic hybridization (array CGH) targeting exons, Tsai et al. (2011) identified a de novo 5- to 6-kb deletion on chromosome 16p13.3 encompassing exons 27 and 28 of the CREBBP gene in a male infant with classic clinical features of RSTS. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Genotype/Phenotype Correlations</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Using FISH and 3 cosmid probes, Bartsch et al. (1999) studied 45 Rubinstein-Taybi syndrome patients from Germany, the Czech Republic, Austria, and Turkey and found 4 deletions. This gave a frequency of deletions of 8.9%; when pooled with the data from previous studies, a frequency of 11% was found. All deletions were interstitial; 3 spanned the CREB-binding protein gene and 1 was smaller. The findings of Bartsch et al. (1999) suggested a more severe phenotype in these deletion cases. The mean age at presentation was 0.96 years in patients with a deletion as opposed to 11.12 years in those without. Bartsch et al. (1999) suggested that the 2 patients who died in infancy had a contiguous gene deletion syndrome. </p><p>Using a combination of FISH and multiple ligation-dependent probe amplification (MLPA) analysis, Rusconi et al. (2015) identified 14 different and novel CREBBP deletions in 14 of 171 patients with a clinical diagnosis of RSTS. The deletions, which accounted for 23% of detected CREBBP mutations in this cohort, ranged in size from 930 bp encompassing single exons to 1.35 Mb encompassing the whole gene and neighboring genes. Genotype/phenotype correlations indicated that patients with larger deletions did not always have a more severe phenotype than those with smaller deletions or point mutations, suggesting that the idea of a contiguous gene deletion syndrome in such patients, as proposed by Bartsch et al. (2006) (see 610543), may not be accurate. </p><p>Hendrich and Bickmore (2001) reviewed human disorders which share in common defects of chromatin structure or modification, including the ATR-X spectrum of disorders (301040), ICF syndrome (242860), Rett syndrome (312750), Rubinstein-Taybi syndrome, and Coffin-Lowry syndrome (303600). </p><p>Schorry et al. (2008) identified pathogenic mutations in the CREBBP gene in 52 (56%) of 93 patients meeting clinical diagnostic criteria for RSTS. Ten patients had single amino acid changes, 36 had truncating or splice site mutations, and 6 had microdeletions. The mutations were distributed throughout the gene. There were few phenotypic differences observed between patients grouped by different types of mutations, other than a trend toward increased severity of cognitive impairment and autistic features in patients with larger deletions. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Population Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Padfield et al. (1968) estimated that the frequency of Rubinstein syndrome was 1 per 300-500 in institutionalized patients with mental retardation over age 5 years. </p><p>Beets et al. (2014) stated that the birth prevalence of Rubinstein-Taybi syndrome is 1 in 100,000-125,000. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Nomenclature</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Although the acronym RTS is sometimes used for Rubinstein-Taybi syndrome, the use of this acronym for 2 other syndromes, Rothmund-Thomson syndrome (268400) and Rett syndrome, may lead to confusion; hence, use of the symbol RSTS is recommended.</p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Animal Model</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Oike et al. (1999) generated a mouse model of RSTS by an insertional mutation in the Cbp gene. Heterozygous mice that had truncated Cbp protein (residues 1 to 1084) containing the CREB-binding domain showed clinical features of RSTS, such as growth retardation (100%), retarded osseous maturation (100%), hypoplastic maxilla with narrow palate (100%), cardiac anomalies (15%), and skeletal abnormalities (7%). The authors concluded that the mutant truncated Cbp protein acted in a dominant-negative fashion to generate the RSTS phenotype in mice. Mutant mice performed poorly in passive avoidance and fear-conditioning tests, suggesting deficiency in long-term memory. Short-term memory appeared to be normal. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>History</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Roy et al. (1968) suggested multifactorial inheritance in RSTS. </p><p>Since the CREB-binding protein is a critical coactivator for thyroid hormone receptors, Olson and Koenig (1997) hypothesized that thyroid hormone resistance might occur in RSTS. To assess the function of the thyroid axis in RSTS, they measured free thyroxine (T4) and thyroid-stimulating hormone (TSH; see 188540) in 12 affected subjects. Free T4 and TSH levels were normal in all 12 subjects, indicating that overt thyroid hormone resistance is not a typical feature of RSTS. </p>
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>See Also:</strong>
</span>
</h4>
<span class="mim-text-font">
Coffin (1964); Hennekam et al. (1990); Kajii et al. (1981);
Rubinstein (1974); Wessels et al. (1991)
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div>
<ol>
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<p class="mim-text-font">
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Beets, L., Rodriguez-Fonseca, C., Hennekam, R. C.
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[Full Text: https://doi.org/10.1002/ajmg.a.36654]
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Bonioli, E., Bellini, C., Senes, F. M., Palmieri, A., Di Stadio, M., Pinelli, G.
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[Full Text: https://doi.org/10.1111/j.1399-0004.1993.tb03851.x]
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Bonioli, E., Bellini, C.
<strong>Inheritance of Rubinstein-Taybi syndrome. (Letter)</strong>
Am. J. Med. Genet. 32: 559 only, 1989.
[PubMed: 2774008]
[Full Text: https://doi.org/10.1002/ajmg.1320320433]
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Bonioli, E., Bellini, C.
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Am. J. Med. Genet. 44: 386 only, 1992.
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[Full Text: https://doi.org/10.1002/ajmg.1320440325]
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Breuning, M. H., Dauwerse, H. G., Fugazza, G., Saris, J. J., Spruit, L., Wijnen, H., Tommerup, N., van der Hagen, C. B., Imaizumi, K., Kuroki, Y., van den Boogaard, M.-J., de Pater, J. M., Mariman, E. C. M., Hamel, B. C. J., Himmelbauer, H., Frischauf, A.-M., Stallings, R. L., Beverstock, G. C., van Ommen, G.-J. B., Hennekam, R. C. M.
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Caksen, H., Bartsch, O., Okur, M., Temel, H., Acikgoz, M., Yilmaz, C.
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Davis, P. J., Brook, A. H.
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Der Kaloustian, V. M., Afifi, A. K., Sinno, A. A., Mire, J.
<strong>The Rubinstein-Taybi syndrome: clinical and muscle electron microscopic study.</strong>
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Garcia, D., Karasik, J., Marion, R.
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Gardner, D. G., Girgis, S. S.
<strong>Talon cusps: a dental anomaly in the Rubinstein-Taybi syndrome.</strong>
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Gervasini, C., Castronovo, P., Bentivegna, A., Mottadelli, F., Faravelli, F., Giovannucci-Uzielli, M. L., Pessagno, A., Lucci-Cordisco, E., Pinto, A. M., Salviati, L., Selicorni, A., Tenconi, R., Neri, G., Larizza, L.
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<li>
<p class="mim-text-font">
Gillies, D. R. N., Roussounis, S. H.
<strong>Rubinstein-Taybi syndrome: further evidence of a genetic aetiology.</strong>
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[PubMed: 4092848]
[Full Text: https://doi.org/10.1111/j.1469-8749.1985.tb03799.x]
</p>
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Giroux, J., Miller, J. R.
<strong>Dermatoglyphics of the broad thumb and great toe syndrome.</strong>
Am. J. Dis. Child. 113: 207-209, 1967.
[PubMed: 6019436]
[Full Text: https://doi.org/10.1001/archpedi.1967.02090170071004]
</p>
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<p class="mim-text-font">
Guion-Almeida, M. L., Richieri-Costa, A.
<strong>Callosal agenesis, iris coloboma, and megacolon in a Brazilian boy with Rubinstein-Taybi syndrome.</strong>
Am. J. Med. Genet. 43: 929-931, 1992.
[PubMed: 1415341]
[Full Text: https://doi.org/10.1002/ajmg.1320430604]
</p>
</li>
<li>
<p class="mim-text-font">
Hendrich, B., Bickmore, W.
<strong>Human diseases with underlying defects in chromatin structure and modification.</strong>
Hum. Molec. Genet. 10: 2233-2242, 2001.
[PubMed: 11673406]
[Full Text: https://doi.org/10.1093/hmg/10.20.2233]
</p>
</li>
<li>
<p class="mim-text-font">
Hennekam, R. C. M., Lommen, E. J. P., Strengers, J. L. M., Van Spijker, H. G., Jansen-Kokx, T. M. G.
<strong>Rubinstein-Taybi syndrome in a mother and son.</strong>
Europ. J. Pediat. 148: 439-441, 1989.
[PubMed: 2920750]
[Full Text: https://doi.org/10.1007/BF00595907]
</p>
</li>
<li>
<p class="mim-text-font">
Hennekam, R. C. M., Stevens, C. A., Van de Kamp, J. J. P.
<strong>Etiology and recurrence risk in Rubinstein-Taybi syndrome.</strong>
Am. J. Med. Genet. Suppl. 6: 56-64, 1990.
</p>
</li>
<li>
<p class="mim-text-font">
Hennekam, R. C. M., Tilanus, M., Hamel, B. C. J., Voshart-van Heeren, H., Mariman, E. C. M., van Beersum, S. E. C., van den Boogaard, M.-J. H., Breuning, M. H.
<strong>Deletion at chromosome 16p13.3 as a cause of Rubinstein-Taybi syndrome: clinical aspects.</strong>
Am. J. Hum. Genet. 52: 255-262, 1993.
[PubMed: 8430692]
</p>
</li>
<li>
<p class="mim-text-font">
Hennekam, R. C. M., Van den Boogaard, M.-J., Sibbles, B. J., Van Spijker, H. G.
<strong>Rubinstein-Taybi syndrome in the Netherlands.</strong>
Am. J. Med. Genet. Suppl. 6: 17-29, 1990.
</p>
</li>
<li>
<p class="mim-text-font">
Hennekam, R. C. M., Van Doorne, J. M.
<strong>Oral aspects of Rubinstein-Taybi syndrome.</strong>
Am. J. Med. Genet. Suppl. 6: 42-47, 1990.
</p>
</li>
<li>
<p class="mim-text-font">
Hennekam, R. C. M.
<strong>Rubinstein-Taybi syndrome.</strong>
Europ. J. Hum. Genet. 14: 981-985, 2006.
[PubMed: 16868563]
[Full Text: https://doi.org/10.1038/sj.ejhg.5201594]
</p>
</li>
<li>
<p class="mim-text-font">
Ihara, K., Kuromaru, R., Takemoto, M., Hara, T.
<strong>Rubinstein-Taybi syndrome: a girl with a history of neuroblastoma and premature thelarche.</strong>
Am. J. Med. Genet. 83: 365-366, 1999.
[PubMed: 10232744]
</p>
</li>
<li>
<p class="mim-text-font">
Imaizumi, K., Kuroki, Y.
<strong>Rubinstein-Taybi syndrome with de novo reciprocal translocation t(2;16)(p13.3;p13.3).</strong>
Am. J. Med. Genet. 38: 636-639, 1991.
[PubMed: 2063911]
[Full Text: https://doi.org/10.1002/ajmg.1320380430]
</p>
</li>
<li>
<p class="mim-text-font">
Kajii, T., Hagiwara, K., Tsukahara, M., Nakajima, H., Fukuda, Y.
<strong>Monozygotic twins discordant for Rubinstein-Taybi syndrome.</strong>
J. Med. Genet. 18: 312-314, 1981.
[PubMed: 7196955]
[Full Text: https://doi.org/10.1136/jmg.18.4.312]
</p>
</li>
<li>
<p class="mim-text-font">
Kanjilal, D., Basir, M. A., Verma, R. S., Rajegowda, B. K., Lala, R., Nagaraj, A.
<strong>New dysmorphic features in Rubinstein-Taybi syndrome.</strong>
J. Med. Genet. 29: 669-670, 1992.
[PubMed: 1404300]
[Full Text: https://doi.org/10.1136/jmg.29.9.669]
</p>
</li>
<li>
<p class="mim-text-font">
Kurosawa, K., Masuno, M., Imaizumi, K., Matsuo, M., Kuroki, Y., Tachibana, K.
<strong>Premature thelarche in Rubinstein-Taybi syndrome. (Letter)</strong>
Am. J. Med. Genet. 109: 72-73, 2002.
[PubMed: 11932997]
[Full Text: https://doi.org/10.1002/ajmg.10297]
</p>
</li>
<li>
<p class="mim-text-font">
Lacombe, D., Saura, R., Taine, L., Battin, J.
<strong>Confirmation of assignment of a locus for Rubinstein-Taybi syndrome gene to 16p13.3.</strong>
Am. J. Med. Genet. 44: 126-128, 1992.
[PubMed: 1519642]
[Full Text: https://doi.org/10.1002/ajmg.1320440134]
</p>
</li>
<li>
<p class="mim-text-font">
Levy, N. S.
<strong>Juvenile glaucoma in the Rubinstein-Taybi syndrome.</strong>
J. Pediat. Ophthal. 13: 141-143, 1976.
[PubMed: 1018193]
</p>
</li>
<li>
<p class="mim-text-font">
Lowry, R. B.
<strong>Overlap between Rubinstein-Taybi and Saethre-Chotzen syndromes: a case report.</strong>
Am. J. Med. Genet. Suppl. 6: 73-76, 1990.
</p>
</li>
<li>
<p class="mim-text-font">
Marion, R. W., Garcia, D. M., Karasik, J. B.
<strong>Apparent dominant transmission of the Rubinstein-Taybi syndrome.</strong>
Am. J. Med. Genet. 46: 284-287, 1993.
[PubMed: 8488872]
[Full Text: https://doi.org/10.1002/ajmg.1320460309]
</p>
</li>
<li>
<p class="mim-text-font">
Masuno, M., Imaizumi, K., Kurosawa, K., Makita, Y., Petrij, F., Dauwerse, H. G., Breuning, M. H., Kuroki, Y.
<strong>Submicroscopic deletion of chromosome region 16p13.3 in a Japanese patient with Rubinstein-Taybi syndrome.</strong>
Am. J. Med. Genet. 53: 352-354, 1994.
[PubMed: 7864045]
[Full Text: https://doi.org/10.1002/ajmg.1320530409]
</p>
</li>
<li>
<p class="mim-text-font">
McKusick, V. A.
<strong>Personal Communication.</strong>
Baltimore: Md. 1968.
</p>
</li>
<li>
<p class="mim-text-font">
Miller, R. W., Rubinstein, J. H.
<strong>Tumors in Rubinstein-Taybi syndrome</strong>
Am. J. Med. Genet. 56: 112-115, 1995.
[PubMed: 7747773]
[Full Text: https://doi.org/10.1002/ajmg.1320560125]
</p>
</li>
<li>
<p class="mim-text-font">
Naimi, D. R., Munoz, J., Rubinstein, J., Hostoffer, R. W., Jr.
<strong>Rubinstein-Taybi syndrome: an immune deficiency as a cause for recurrent infections.</strong>
Allergy Asthma Proc. 27: 281-284, 2006.
[PubMed: 16913274]
[Full Text: https://doi.org/10.2500/aap.2006.27.2864]
</p>
</li>
<li>
<p class="mim-text-font">
Oike, Y., Hata, A., Mamiya, T., Kaname, T., Noda, Y., Suzuki, M., Yasue, H., Nabeshima, T., Araki, K., Yamamura, K.
<strong>Truncated CBP protein leads to classical Rubinstein-Taybi syndrome phenotypes in mice: implications for a dominant-negative mechanism.</strong>
Hum. Molec. Genet. 8: 387-396, 1999.
[PubMed: 9949198]
[Full Text: https://doi.org/10.1093/hmg/8.3.387]
</p>
</li>
<li>
<p class="mim-text-font">
Olson, D. P., Koenig, R. J.
<strong>Thyroid function in Rubinstein-Taybi syndrome.</strong>
J. Clin. Endocr. Metab. 82: 3264-3266, 1997.
[PubMed: 9329350]
[Full Text: https://doi.org/10.1210/jcem.82.10.4273]
</p>
</li>
<li>
<p class="mim-text-font">
Padfield, C. J., Partington, M. W., Simpson, N. E.
<strong>The Rubinstein-Taybi syndrome.</strong>
Arch. Dis. Child. 43: 94-101, 1968.
[PubMed: 5642988]
[Full Text: https://doi.org/10.1136/adc.43.227.94]
</p>
</li>
<li>
<p class="mim-text-font">
Petrij, F., Dauwerse, H. G., Blough, R. I., Giles, R. H., van der Smagt, J. J., Wallerstein, R., Maaswinkel-Mooy, P. D., van Karnebeek, C. D., van Ommen, G.-J. B., van Haeringen, A., Rubinstein, J. H., Saal, H. M., Hennekam, R. C. M., Peters, D. J. M., Breuning, M. H.
<strong>Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations.</strong>
J. Med. Genet. 37: 168-176, 2000.
[PubMed: 10699051]
[Full Text: https://doi.org/10.1136/jmg.37.3.168]
</p>
</li>
<li>
<p class="mim-text-font">
Petrij, F., Giles, R. H., Dauwerse, H. G., Saris, J. J., Hennekam, R. C. M., Masuno, M., Tommerup, N., van Ommen, G.-J. B., Goodman, R. H., Peters, D. J. M., Breuning, M. H.
<strong>Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP.</strong>
Nature 376: 348-351, 1995.
[PubMed: 7630403]
[Full Text: https://doi.org/10.1038/376348a0]
</p>
</li>
<li>
<p class="mim-text-font">
Pfeifer, R. A.
<strong>Rubinstein-Taybi-Syndrom bei wahrscheinlich eineiigen Zwillingen.</strong>
Humangenetik 6: 84-87, 1968.
[PubMed: 5699899]
[Full Text: https://doi.org/10.1007/BF00287159]
</p>
</li>
<li>
<p class="mim-text-font">
Preis, S., Majewski, F.
<strong>Monozygotic twins concordant for Rubinstein-Taybi syndrome: changing phenotype during infancy.</strong>
Clin. Genet. 48: 72-75, 1995.
[PubMed: 7586654]
[Full Text: https://doi.org/10.1111/j.1399-0004.1995.tb04058.x]
</p>
</li>
<li>
<p class="mim-text-font">
Robinson, T. W., Stewart, D. L., Hersh, J. H.
<strong>Monozygotic twins concordant for Rubinstein-Taybi syndrome and implications for genetic counseling.</strong>
Am. J. Med. Genet. 45: 671-673, 1993.
[PubMed: 8456842]
[Full Text: https://doi.org/10.1002/ajmg.1320450602]
</p>
</li>
<li>
<p class="mim-text-font">
Roelfsema, J. H., White, S. J., Ariyurek, Y., Bartholdi, D., Niedrist, D., Papadia, F., Bacino, C. A., den Dunnen, J. T., van Ommen, G.-J. B., Breuning, M. H., Hennekam, R. C., Peters, D. J. M.
<strong>Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.</strong>
Am. J. Hum. Genet. 76: 572-580, 2005.
[PubMed: 15706485]
[Full Text: https://doi.org/10.1086/429130]
</p>
</li>
<li>
<p class="mim-text-font">
Roy, F. H., Summitt, R. L., Hiatt, R. L., Hughes, J. G.
<strong>Ocular manifestations of the Rubinstein-Taybi syndrome: case report and review of the literature.</strong>
Arch. Ophthal. 79: 272-278, 1968.
[PubMed: 4966643]
[Full Text: https://doi.org/10.1001/archopht.1968.03850040274008]
</p>
</li>
<li>
<p class="mim-text-font">
Rubinstein, J. H., Taybi, H.
<strong>Broad thumbs and toes and facial abnormalities.</strong>
Am. J. Dis. Child. 105: 588-608, 1963.
[PubMed: 13983033]
[Full Text: https://doi.org/10.1001/archpedi.1963.02080040590010]
</p>
</li>
<li>
<p class="mim-text-font">
Rubinstein, J. H.
<strong>The broad thumb syndrome--progress report 1968.</strong>
Birth Defects Orig. Art. Ser. V(2): 25-41, 1969.
</p>
</li>
<li>
<p class="mim-text-font">
Rubinstein, J. H.
<strong>Fatherhood of the so-called Rubinstein-Taybi-syndrome.</strong>
Am. J. Dis. Child. 128: 424, 1974.
[PubMed: 4414227]
[Full Text: https://doi.org/10.1001/archpedi.1974.02110280154029]
</p>
</li>
<li>
<p class="mim-text-font">
Rusconi, D., Negri, G., Colapietro, P., Picinelli, C., Milani, D., Spena, S., Magnani, C., Silengo, M. C., Sorasio, L., Curtisova, V., Cavaliere, M. L., Prontera, P., and 11 others.
<strong>Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire.</strong>
Hum. Genet. 134: 613-626, 2015.
[PubMed: 25805166]
[Full Text: https://doi.org/10.1007/s00439-015-1542-9]
</p>
</li>
<li>
<p class="mim-text-font">
Schorry, E. K., Keddache, M., Lanphear, N., Rubinstein, J. H., Srodulski, S., Fletcher, D., Blough-Pfau, R. I., Grabowski, G. A.
<strong>Genotype-phenotype correlations in Rubinstein-Taybi syndrome.</strong>
Am. J. Med. Genet. 146A: 2512-2519, 2008.
[PubMed: 18792986]
[Full Text: https://doi.org/10.1002/ajmg.a.32424]
</p>
</li>
<li>
<p class="mim-text-font">
Shashi, V., Fryburg, J. S.
<strong>Vascular ring leading to tracheoesophageal compression in a patient with Rubinstein-Taybi syndrome.</strong>
Clin. Genet. 48: 324-327, 1995.
[PubMed: 8835330]
[Full Text: https://doi.org/10.1111/j.1399-0004.1995.tb04119.x]
</p>
</li>
<li>
<p class="mim-text-font">
Stef, M., Simon, D., Mardirossian, B., Delrue, M.-A., Burgelin, I., Hubert, C., Marche, M., Bonnet, F., Gorry, P., Longy, M., Lacombe, D., Coupry, I., Arveiler, B.
<strong>Spectrum of CREBBP gene dosage anomalies in Rubinstein-Taybi syndrome patients.</strong>
Europ. J. Hum. Genet. 15: 843-847, 2007.
[PubMed: 17473832]
[Full Text: https://doi.org/10.1038/sj.ejhg.5201847]
</p>
</li>
<li>
<p class="mim-text-font">
Stevens, C. A., Bhakta, M. G.
<strong>Cardiac abnormalities in the Rubinstein-Taybi syndrome.</strong>
Am. J. Med. Genet. 59: 346-348, 1995.
[PubMed: 8599359]
[Full Text: https://doi.org/10.1002/ajmg.1320590313]
</p>
</li>
<li>
<p class="mim-text-font">
Stevens, C. A., Carey, J. C., Blackburn, B. L.
<strong>Rubinstein-Taybi syndrome: a natural history study.</strong>
Am. J. Med. Genet. Suppl. 6: 30-37, 1990.
</p>
</li>
<li>
<p class="mim-text-font">
Stevens, C. A., Pouncey, J., Knowles, D.
<strong>Adults with Rubinstein-Taybi syndrome.</strong>
Am. J. Med. Genet. 155A: 1680-1684, 2011.
[PubMed: 21671385]
[Full Text: https://doi.org/10.1002/ajmg.a.34058]
</p>
</li>
<li>
<p class="mim-text-font">
Stevens, C. A.
<strong>Patellar dislocation in Rubinstein-Taybi syndrome.</strong>
Am. J. Med. Genet. 72: 188-190, 1997.
[PubMed: 9382141]
</p>
</li>
<li>
<p class="mim-text-font">
Stirt, J. A.
<strong>Succinylcholine in Rubinstein-Taybi syndrome. (Letter)</strong>
Anesthesiology 57: 429, 1982.
[PubMed: 7137629]
[Full Text: https://doi.org/10.1097/00000542-198211000-00025]
</p>
</li>
<li>
<p class="mim-text-font">
Tommerup, N., van der Hagen, C. B., Heiberg, A.
<strong>Tentative assignment of a locus for Rubinstein-Taybi syndrome to 16p13.3 by a de novo reciprocal translocation, t(7;16)(q34;p13.3). (Abstract)</strong>
Cytogenet. Cell Genet. 58: 2002-2003, 1991.
</p>
</li>
<li>
<p class="mim-text-font">
Tommerup, N., van der Hagen, C. B., Heiberg, A.
<strong>Tentative assignment of a locus for Rubinstein-Taybi syndrome to 16p13.3 by a de novo reciprocal translocation, t(7;16)(q34;p13.3).</strong>
Am. J. Med. Genet. 44: 237-241, 1992.
[PubMed: 1456298]
[Full Text: https://doi.org/10.1002/ajmg.1320440223]
</p>
</li>
<li>
<p class="mim-text-font">
Tsai, A. C.-H., Dossett, C. J., Walton, C. S., Cramer, A. E., Eng, P. A., Nowakowska, B. A., Pursley, A. N., Stankiewicz, P., Wiszniewska, J., Cheung, S. W.
<strong>Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGH.</strong>
Europ. J. Hum. Genet. 19: 43-49, 2011.
[PubMed: 20717166]
[Full Text: https://doi.org/10.1038/ejhg.2010.121]
</p>
</li>
<li>
<p class="mim-text-font">
Wallerstein, R., Anderson, C. E., Hay, B., Gupta, P., Gibas, L., Ansari, K., Cowchock, F. S., Weinblatt, V., Reid, C., Levitas, A., Jackson, L.
<strong>Submicroscopic deletions at 16p13.3 in Rubinstein-Taybi syndrome: frequency and clinical manifestations in a North American population.</strong>
J. Med. Genet. 34: 203-206, 1997.
[PubMed: 9132490]
[Full Text: https://doi.org/10.1136/jmg.34.3.203]
</p>
</li>
<li>
<p class="mim-text-font">
Wessels, J. W., Mollevanger, P., Dauwerse, J. G., Cluitmans, F. H. M., Breuning, M. H., Beverstock, G. C.
<strong>Two distinct loci on the short arm of chromosome 16 are involved in myeloid leukemia.</strong>
Blood 77: 1555-1559, 1991.
[PubMed: 2009371]
</p>
</li>
<li>
<p class="mim-text-font">
Wiley, S., Swayne, S., Rubinstein, J. H., Lanphear, N. E., Stevens, C. A.
<strong>Rubinstein-Taybi syndrome medical guidelines.</strong>
Am. J. Med. Genet. 119A: 101-110, 2003.
[PubMed: 12749047]
[Full Text: https://doi.org/10.1002/ajmg.a.10009]
</p>
</li>
<li>
<p class="mim-text-font">
Wulfsberg, E. A., Klisak, I. J., Sparkes, R. S.
<strong>High resolution chromosome banding in the Rubinstein-Taybi syndrome.</strong>
Clin. Genet. 23: 35-37, 1983.
[PubMed: 6831761]
[Full Text: https://doi.org/10.1111/j.1399-0004.1983.tb00434.x]
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</div>
</div>
<div class="modal-footer">
<button type="button" id="mimDonationPopupDonate" class="btn btn-success btn-block" data-dismiss="modal"> Donate To OMIM! </button>
</div>
</div>
</div>
</div>
</div>
</body>
</html>
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