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Entry
- #190350 - TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1
- OMIM
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<span class="h4">#190350</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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<a href="/clinicalSynopsis/190350"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS190350"> <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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<a href="#cytogenetics">Cytogenetics</a>
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<a href="#mapping">Mapping</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="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
<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=TRICHORHINOPHALANGEAL SYNDROME, TYPE I" 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>
<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=11101&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/trichorhinophalangeal-syndrome-type-i" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Animal Models</div>
</div>
</a>
</span>
</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:14743" 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/190350" 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>
</div>
</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:190350" 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> 254091006<br />
<strong>ORPHA:</strong> 77258<br />
<strong>DO:</strong> 14743<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>
190350
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1
</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">
TRPS I
</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/8/489?start=-3&limit=10&highlight=489">
8q23.3
</a>
</span>
</td>
<td>
<span class="mim-font">
Trichorhinophalangeal syndrome, type I
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/190350"> 190350 </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">
TRPS1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604386"> 604386 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/190350" 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/PS190350" 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')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&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/190350" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/190350" 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 /> -
Normal birth length <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853173&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853173</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">
- Growth deficiency, mild <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3550204&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3550204</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001530" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001530</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001510</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> Face </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Prominent, long philtrum <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860836&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860836</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 /> -
Horizontal groove on chin <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4023171&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4023171</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011823" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011823</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">
- Large prominent ears <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860838&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860838</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">
- Thin eyebrows (laterally) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860839&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860839</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0045074" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0045074</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">
- Pear-shaped nose <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853482&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853482</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000447" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000447</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000447" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000447</a>]</span><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">
- 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 /> -
Thin upper lip <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1865017&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1865017</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000219" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000219</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000219" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000219</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">
- Small teeth <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32337007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32337007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K00.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K00.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240340&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240340</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000691" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000691</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000691" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000691</a>]</span><br /> -
Carious teeth <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80967001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80967001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K02</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K02.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K02.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/521.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">521.0</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/521.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">521.00</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011334&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011334</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000670" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000670</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000670" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000670</a>]</span><br /> -
Dental malocclusion <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/707598004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">707598004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/47944004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">47944004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M26.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M26.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0024636&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0024636</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000689" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000689</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000689" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000689</a>]</span><br /> -
Delayed teeth eruption <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/5639000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">5639000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239174&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239174</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000684" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000684</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000684" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000684</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">
- Winged scapulae <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/17211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">17211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240953&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240953</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003691" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003691</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003691" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003691</a>]</span><br /> -
Pectus carinatum <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/205101001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">205101001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/38774000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">38774000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/754.82" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.82</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2939416&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2939416</a>, <a href="https://bioportal.bioontology.org/search?q=C0158731&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158731</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000768" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000768</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000768" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000768</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 bone age before puberty <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 /> -
Accelerated bone age after puberty <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860825&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860825</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002805" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002805</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002805" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002805</a>]</span><br /> -
Osteopenia (late-onset) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3550201&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3550201</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/312894000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">312894000</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000938" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000938</a>]</span><br /> -
Osteoarthritis (late-onset) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3550202&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3550202</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/225655006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">225655006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/396275006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">396275006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M15-M19" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M15-M19</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M19.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M19.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M19.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M19.90</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/715.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">715.9</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002758" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002758</a>]</span><br /> -
Joint pain (late-onset) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3550203&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3550203</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/57676002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">57676002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M25.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M25.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/719.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">719.40</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/719.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">719.4</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002829" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002829</a>]</span><br />
</span>
</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 /> -
Lordosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/61960001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">61960001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249710008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249710008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1187290008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1187290008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M40.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M40.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0599412&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0599412</a>, <a href="https://bioportal.bioontology.org/search?q=C0024003&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0024003</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003307" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003307</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003307" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003307</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">
- Coxa plana <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111255008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111255008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/240241003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">240241003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M91.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M91.2</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M91.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M91.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1442965&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1442965</a>, <a href="https://bioportal.bioontology.org/search?q=C0023234&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0023234</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005743" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005743</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005743" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005743</a>]</span><br /> -
Coxa magna <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/296041000119103" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">296041000119103</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M91.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M91.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860826&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860826</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003279" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003279</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003279" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003279</a>]</span><br /> -
Flattened capital femoral epiphyses <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836591&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836591</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">
- Swelling of proximal interphalangeal joints <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860841&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860841</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006253" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006253</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006253" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006253</a>]</span><br /> -
Short metacarpals <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837084&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837084</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010049" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010049</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010049" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010049</a>]</span><br /> -
Cone-shaped epiphyses of middle and proximal phalanges (2nd, 3rd, 4th fingers) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860842&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860842</a>]</span><br /> -
Eburnated epiphyses of distal phalanges (2-4-5) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860843&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860843</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010252</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">
- Short metatarsals <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849020&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849020</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010743" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010743</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010743" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010743</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> Nails </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Thin nails <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/63829008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">63829008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423823&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423823</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001816" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001816</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001816" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001816</a>]</span><br /> -
Koilonychia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/66270006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">66270006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221261&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221261</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001598" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001598</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001598" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001598</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=228be9f2e482f666464932400bf48c1b" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/NYexcgDAWT8VDQxKubFUEm52xxy4caTK-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=228be9f2e482f666464932400bf48c1b&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 /> -
Leukonychia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111202002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111202002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240182&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240182</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001820" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001820</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001820" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001820</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">
- Sparse, thin hair <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860844&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860844</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008070" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008070</a>]</span><br /> -
Slow-growing hair <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1832348&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1832348</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002217" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002217</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002217" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002217</a>]</span><br /> -
Thin eyebrows (laterally) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860839&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860839</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0045074" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0045074</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">
- Hypotonia (infancy) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860834&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860834</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008947" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008947</a>]</span> <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">[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 /> -
Normal intelligence <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26941006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26941006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423900&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423900</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> VOICE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Deep voice <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860845&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860845</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">
- Cone-shaped epiphyses usually not present before age 2 years<br /> -
Allelic to trichorhinophalangeal syndrome, type III (TRPS3, <a href="/entry/190351">190351</a>)<br /> -
TRPS2 (Langer-Giedion syndrome, <a href="/entry/150230">150230</a>) is a microdeletion syndrome involving deletions of both TRPS1 (<a href="/entry/190350">190350</a>) and EXT1 (<a href="/entry/608177">608177</a>) genes<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 zinc finger transcription factor TRPS1 (TRPS1, <a href="/entry/604386#0001">604386.0001</a>)<br />
</span>
</div>
</div>
</div>
<div class="text-right">
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
</div>
</div>
</div>
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small">
<div class="row">
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
<h5>
Trichorhinophalangeal syndrome
- <a href="/phenotypicSeries/PS190350">PS190350</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>
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<strong>Location</strong>
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<strong>Phenotype</strong>
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<strong>Inheritance</strong>
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<strong>Phenotype<br />mapping key</strong>
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<strong>Phenotype<br />MIM number</strong>
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<strong>Gene/Locus</strong>
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<strong>Gene/Locus<br />MIM number</strong>
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<td>
<span class="mim-font">
<a href="/geneMap/8/489?start=-3&limit=10&highlight=489"> 8q23.3 </a>
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</td>
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<span class="mim-font">
<a href="/entry/190350"> Trichorhinophalangeal syndrome, type I </a>
</span>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
<a href="/entry/190350"> 190350 </a>
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<span class="mim-font">
<a href="/entry/604386"> TRPS1 </a>
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<span class="mim-font">
<a href="/entry/604386"> 604386 </a>
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<span class="mim-font">
<a href="/geneMap/8/489?start=-3&limit=10&highlight=489"> 8q23.3 </a>
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<span class="mim-font">
<a href="/entry/190351"> Trichorhinophalangeal syndrome, type III </a>
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<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
<a href="/entry/190351"> 190351 </a>
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</td>
<td>
<span class="mim-font">
<a href="/entry/604386"> TRPS1 </a>
</span>
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<td>
<span class="mim-font">
<a href="/entry/604386"> 604386 </a>
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</tr>
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<span class="mim-font">
<a href="/geneMap/8/499?start=-3&limit=10&highlight=499"> 8q24.11-q24.13 </a>
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<span class="mim-font">
<a href="/entry/150230"> Trichorhinophalangeal syndrome, type II </a>
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<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<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>
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<span class="mim-font">
<a href="/entry/150230"> 150230 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/150230"> TRPS2 </a>
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<span class="mim-font">
<a href="/entry/150230"> 150230 </a>
</span>
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</tr>
</tbody>
</table>
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that trichorhinophalangeal syndrome type I (TRPS1) is caused by heterozygous mutation in the TRPS1 gene (<a href="/entry/604386">604386</a>) on chromosome 8q23. Mutation in the same gene has been found to cause TRPS III (TRPS3; <a href="/entry/190351">190351</a>).</p>
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<a id="description" class="mim-anchor"></a>
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<strong>Description</strong>
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<p>Trichorhinophalangeal syndrome type I (TRPS1) is an autosomal dominant malformation syndrome characterized by distinctive craniofacial and skeletal abnormalities. TRPS I patients have sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature (summary by <a href="#25" class="mim-tip-reference" title="Momeni, P., Glockner, G., Schmidt, O., von Holtum, D., Albrecht, B., Gillessen-Kaesbach, G., Hennekam, R., Meinecke, P., Zabel, B., Rosenthal, A., Horsthemke, B., Ludecke, H.-J. &lt;strong&gt;Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I.&lt;/strong&gt; Nature Genet. 24: 71-74, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10615131/&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;10615131&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/71717&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="10615131">Momeni et al., 2000</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10615131" 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="clinicalFeatures" class="mim-anchor"></a>
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<strong>Clinical Features</strong>
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<p><a href="#10" class="mim-tip-reference" title="Giedion, A. &lt;strong&gt;Das Tricho-rhino-phalangeal Syndrom.&lt;/strong&gt; Helv. Paediat. Acta 21: 475-482, 1966.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5991804/&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;5991804&lt;/a&gt;]" pmid="5991804">Giedion (1966)</a> delineated a syndrome consisting of thin and slowly growing hair, pear-shaped nose with high philtrum, brachyphalangy with deformation of the fingers and wedge-shaped epiphyses. Giedion's patient, a girl, had 2 supernumerary incisors. He found 2 previous reports, each describing 2 affected sibs. The parents in 1 of the families were consanguineous. One of the pairs of affected sibs was reported as pseudo-pseudohypoparathyroidism (<a href="#33" class="mim-tip-reference" title="Van der Werff Ten Bosch, J. J. &lt;strong&gt;The syndrome of brachymetacarpal dwarfism (&#x27;pseudo-pseudohypoparathyroidism&#x27;) with and without gonadal dysgenesis.&lt;/strong&gt; Lancet 273: 69-71, 1959. Note: Originally Volume I.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/13621640/&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;13621640&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0140-6736(59)91137-7&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="13621640">van der Werff Ten Bosch, 1959</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5991804+13621640" 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="#18" class="mim-tip-reference" title="Hussels, I. E. &lt;strong&gt;Trichorhinophalangeal syndrome in two sibs.&lt;/strong&gt; Birth Defects Orig. Art. Ser. VII(7): 301-303, 1971."None>Hussels (1971)</a> observed affected brother and sister whose parents were not related and allegedly were unaffected, but the father was not available for examination.</p><p><a href="#26" class="mim-tip-reference" title="Murdoch, J. L. &lt;strong&gt;Tricho-rhino-phalangeal dysplasia with possible autosomal dominant transmission.&lt;/strong&gt; Birth Defects Orig. Art. Ser. V(2): 218-220, 1969."None>Murdoch (1969)</a> reported a family in which a grandfather, son, and grandson had TRPS1. The earliest affected male died at age 43 years of a cerebrovascular accident. <a href="#2" class="mim-tip-reference" title="Beals, R. K. &lt;strong&gt;Tricho-rhino-phalangeal dysplasia: report of a kindred.&lt;/strong&gt; J. Bone Joint Surg. Am. 55: 821-826, 1973.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4283755/&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;4283755&lt;/a&gt;]" pmid="4283755">Beals (1973)</a> described a family in which the father and 2 of 4 children, a male and a female, were affected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4283755" 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>Three Japanese families in which 19 persons were affected with TRPS1 in a clear autosomal dominant pedigree pattern were reported by <a href="#31" class="mim-tip-reference" title="Sugiura, Y., Shionoya, M., Inoue, T., Tsuruta, T. &lt;strong&gt;Tricho-rhino-phalangeal syndrome: report on three unrelated families.&lt;/strong&gt; Jpn. J. Hum. Genet. 21: 13-22, 1976."None>Sugiura et al. (1976)</a>.</p><p><a href="#19" class="mim-tip-reference" title="Izumi, K., Takagi, M., Parikh, A. S., Hahn, A., Miskovsky, S. N., Nishimura, G., Torii, C., Kosaki, K., Hasegawa, T., Neilson, D. E. &lt;strong&gt;Late manifestations of tricho-rhino-pharangeal (sic) syndrome in a patient: expanded skeletal phenotype in adulthood. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 152A: 2115-2119, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20635356/&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;20635356&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.33511&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="20635356">Izumi et al. (2010)</a> reported a 31-year-old man of Native American and Puerto Rican descent who presented with adult-onset chronic joint pain in his neck, back, hips, knees, and ankles. Physical and radiographic examination showed facial and skeletal features consistent with TRPS type I, and the diagnosis was confirmed by molecular testing. Facial features included low-set, posteriorly rotated ears, prominent malar eminence and orbital ridge, bulbous nose, hypoplastic nasi alae nasi, hypotrichosis, and long philtrum. He also had brachydactyly, wide halluces, and flat arches. Radiographs showed vertebral spondylosis, scoliosis, spondylolisthesis, shortening of the phalanges, osteophyte formation, osteopenia, and secondary arthritic changes. Cone-shaped epiphyses were not observed. Family history revealed that his mother had alopecia and chronic multiple joint pain. The proband had clinical evidence of hypogonadism and mild vitamin D insufficiency, which could contribute to osteopenia, but <a href="#19" class="mim-tip-reference" title="Izumi, K., Takagi, M., Parikh, A. S., Hahn, A., Miskovsky, S. N., Nishimura, G., Torii, C., Kosaki, K., Hasegawa, T., Neilson, D. E. &lt;strong&gt;Late manifestations of tricho-rhino-pharangeal (sic) syndrome in a patient: expanded skeletal phenotype in adulthood. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 152A: 2115-2119, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20635356/&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;20635356&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.33511&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="20635356">Izumi et al. (2010)</a> concluded that the skeletal features were secondary to TRPS type I. The findings suggested that progressive osteopenia and osteoarthritis are part of the phenotype in older patients with TRPS type I. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20635356" 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>Clinical Variability</em></strong></p><p>
<a href="#1" class="mim-tip-reference" title="Armour, C. M., Smith, A., Hartley, T., Chardon, J. W., Sawyer, S., Schwartzentruber, J., Hennekam, R., Majewski, J., Bulman, D. E., FORGE Canada Consortium, Suri, M., Boycott, K. M. &lt;strong&gt;Syndrome disintegration: exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events.&lt;/strong&gt; Am. J. Med. Genet. 170A: 1820-1825, 2016.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/27133561/&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;27133561&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.37684&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="27133561">Armour et al. (2016)</a> reevaluated 2 male twins who were originally reported by <a href="#7" class="mim-tip-reference" title="Fitzsimmons, J. S., Guilbert, P. R. &lt;strong&gt;Spastic paraplegia associated with brachydactyly and cone shaped epiphyses.&lt;/strong&gt; J. Med. Genet. 24: 702-705, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3430547/&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;3430547&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.24.11.702&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="3430547">Fitzsimmons and Guilbert (1987)</a> as having early-onset slowly progressive spastic paraplegia, dysarthria, and low-normal intellectual capacity. In addition, both patients had skeletal abnormalities of the hands and feet: brachydactyly, cone-shaped epiphyses, and an abnormal metaphyseal-phalangeal pattern profile. <a href="#7" class="mim-tip-reference" title="Fitzsimmons, J. S., Guilbert, P. R. &lt;strong&gt;Spastic paraplegia associated with brachydactyly and cone shaped epiphyses.&lt;/strong&gt; J. Med. Genet. 24: 702-705, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3430547/&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;3430547&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.24.11.702&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="3430547">Fitzsimmons and Guilbert (1987)</a> concluded that the patients had a novel syndrome, which was later designated 'Fitzsimmons-Guilbert syndrome;' however, exome sequencing performed by <a href="#1" class="mim-tip-reference" title="Armour, C. M., Smith, A., Hartley, T., Chardon, J. W., Sawyer, S., Schwartzentruber, J., Hennekam, R., Majewski, J., Bulman, D. E., FORGE Canada Consortium, Suri, M., Boycott, K. M. &lt;strong&gt;Syndrome disintegration: exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events.&lt;/strong&gt; Am. J. Med. Genet. 170A: 1820-1825, 2016.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/27133561/&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;27133561&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.37684&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="27133561">Armour et al. (2016)</a> found that the patients were compound heterozygous for mutations in the SACS gene, resulting in the correct diagnosis of autosomal recessive spastic ataxia-6 (SACS, SPAX6; <a href="/entry/270550">270550</a>). The patients also carried a heterozygous truncating mutation in the TRPS1 gene (<a href="/entry/604386">604386</a>), consistent with a diagnosis of type I trichorhinophalangeal syndrome. Thus, the patients had 2 different genetic diseases that explained the unusual phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3430547+27133561" 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="#24" class="mim-tip-reference" title="McKusick, V. A. &lt;strong&gt;Heritable Disorders of Connective Tissue. (4th ed.)&lt;/strong&gt; St. Louis: C. V. Mosby (pub.) 1972. Note: Fig. 13-38."None>McKusick (1972)</a> noted that autosomal dominant inheritance of TRPS I was established by the report of <a href="#26" class="mim-tip-reference" title="Murdoch, J. L. &lt;strong&gt;Tricho-rhino-phalangeal dysplasia with possible autosomal dominant transmission.&lt;/strong&gt; Birth Defects Orig. Art. Ser. V(2): 218-220, 1969."None>Murdoch (1969)</a> in which a grandfather, son, and grandson were affected.</p>
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<p><a href="#3" class="mim-tip-reference" title="Booth, C. W., Maurer, W. F. &lt;strong&gt;De novo 9:11 translocation in a sporadic case of trichorhinophalangeal (I) syndrome. (Abstract)&lt;/strong&gt; Pediat. Res. 15: 559 only, 1981."None>Booth and Maurer (1981)</a> described a sporadic case of this disorder in a girl with de novo 9;11 translocation (p22;q21).</p><p>Trichorhinophalangeal syndrome type II (TRPS2), or Langer-Giedion syndrome (<a href="/entry/150230">150230</a>), a similar disorder with the additional features of multiple exostoses and mental retardation, often has abnormality of chromosome 8.</p><p><a href="#30" class="mim-tip-reference" title="Sanchez, J. M., Labarta, J. D., De Negrotti, T. C., Migliorini, A. M. &lt;strong&gt;Complex translocation in a boy with trichorhinophalangeal syndrome.&lt;/strong&gt; J. Med. Genet. 22: 314-318, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4045963/&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;4045963&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.22.4.314&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="4045963">Sanchez et al. (1985)</a> described a complex chromosome rearrangement in a boy with TRPS I. Skeletal x-rays were normal. The breakpoints in chromosome 8 were at p22 and q13. <a href="#12" class="mim-tip-reference" title="Goldblatt, J., Smart, R. D. &lt;strong&gt;Tricho-rhino-phalangeal syndrome without exostoses, with an interstitial deletion of 8q23.&lt;/strong&gt; Clin. Genet. 29: 434-438, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3742850/&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;3742850&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1986.tb00517.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="3742850">Goldblatt and Smart (1986)</a> reported a case of TRPS I without exostoses and with a partial microdeletion of 8q23. This is further support for the notion that the Langer-Giedion syndrome is the consequence of deletion or other mutation of 2 or more independent loci, one of which 'causes' exostoses and the other TRPS. <a href="#8" class="mim-tip-reference" title="Fryns, J. P., Van den Berghe, H. &lt;strong&gt;8q24.12 interstitial deletion in trichorhinophalangeal syndrome type I.&lt;/strong&gt; Hum. Genet. 74: 188-189, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3490425/&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;3490425&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00282091&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="3490425">Fryns and Van den Berghe (1986)</a> reported a patient with TRPS I and a small interstitial deletion of 8q24.12. <a href="#4" class="mim-tip-reference" title="Buhler, E. M., Buhler, U. K., Beutler, C., Fessler, R. &lt;strong&gt;A final word on the tricho-rhino-phalangeal syndromes.&lt;/strong&gt; Clin. Genet. 31: 273-275, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3594935/&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;3594935&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1987.tb02806.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="3594935">Buhler et al. (1987)</a> concluded that the Langer-Giedion syndrome is due to a deletion extending from 8q24.11 to 8q24.13, whereas TRPS I is caused by an even smaller deleted segment, namely, 8q24.12. <a href="#4" class="mim-tip-reference" title="Buhler, E. M., Buhler, U. K., Beutler, C., Fessler, R. &lt;strong&gt;A final word on the tricho-rhino-phalangeal syndromes.&lt;/strong&gt; Clin. Genet. 31: 273-275, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3594935/&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;3594935&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1987.tb02806.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="3594935">Buhler et al. (1987)</a> described a case of TRPS I with a mosaic deletion of that band. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3742850+4045963+3490425+3594935" 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="#14" class="mim-tip-reference" title="Haan, E. A., Hull, Y. J., White, S., Cockington, R., Charlton, P., Callen, D. F. &lt;strong&gt;Tricho-rhino-phalangeal and branchio-oto syndromes in a family with an inherited rearrangement of chromosome 8q.&lt;/strong&gt; Am. J. Med. Genet. 32: 490-494, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2773990/&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;2773990&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320320412&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="2773990">Haan et al. (1989)</a> studied a family with an inherited rearrangement of 8q in which persons with the chromosome abnormality had manifestations of both TRPS and the branchiootic syndrome (<a href="/entry/113650">113650</a>). One breakpoint in the abnormality in this family involved 8q24.11, which is consistent with the previously deduced location of the TRPS gene. <a href="#14" class="mim-tip-reference" title="Haan, E. A., Hull, Y. J., White, S., Cockington, R., Charlton, P., Callen, D. F. &lt;strong&gt;Tricho-rhino-phalangeal and branchio-oto syndromes in a family with an inherited rearrangement of chromosome 8q.&lt;/strong&gt; Am. J. Med. Genet. 32: 490-494, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2773990/&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;2773990&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320320412&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="2773990">Haan et al. (1989)</a> suggested that the gene for the branchiootic syndrome may map to either 8q13.3 or 8q21.13, the 2 other breakpoint sites in this family's chromosome aberration. It was thought that there was no deleted material in this family. <a href="#35" class="mim-tip-reference" title="Yamamoto, Y., Oguro, N., Miyao, M., Yanagisawa, M., Ohsawa, T. &lt;strong&gt;Prometaphase chromosomes in the tricho-rhino-phalangeal syndrome type I.&lt;/strong&gt; Am. J. Med. Genet. 32: 524-527, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2773997/&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;2773997&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320320420&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="2773997">Yamamoto et al. (1989)</a> found no evidence of deletion in a study of the chromosomes at the 850-bands stage in a patient with typical familial TRPS I. <a href="#28" class="mim-tip-reference" title="Naritomi, K., Hirayama, K. &lt;strong&gt;Partial trisomy of distal 8q derived from mother with mosaic 8q23.3-24.13 deletion, and relatively mild expression of trichorhinophalangeal syndrome I.&lt;/strong&gt; Hum. Genet. 82: 199-201, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2722199/&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;2722199&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00284059&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="2722199">Naritomi and Hirayama (1989)</a> described a mother and daughter with mild features of TRPS I. Neither had exostosis, microcephaly, or mental retardation. The mother was a mosaic for an 8q23.3-q24.13 deletion. The daughter had a more complex rearrangement of chromosome 8 resulting in partial trisomy of distal 8q. The daughter, however, showed no features of the trisomy 8 syndrome and was a little more affected than the mother. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2773997+2773990+2722199" 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="#36" class="mim-tip-reference" title="Yamamoto, Y., Oguro, N., Miyao, M., Yanagisawa, M. &lt;strong&gt;Tricho-rhino-phalangeal syndrome type I with severe mental retardation due to interstitial deletion of 8q23.3-24.13.&lt;/strong&gt; Am. J. Med. Genet. 32: 133-135, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2784939/&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;2784939&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320320128&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="2784939">Yamamoto et al. (1989)</a> and <a href="#15" class="mim-tip-reference" title="Hamers, A., Jongbloet, P., Peeters, G., Fryns, J. P., Geraedts, J. &lt;strong&gt;Severe mental retardation in a patient with tricho-rhino-phalangeal syndrome type I and 8q deletion.&lt;/strong&gt; Europ. J. Pediat. 149: 618-620, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2373110/&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;2373110&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF02034746&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="2373110">Hamers et al. (1990)</a> independently reported cases of TRPS I with severe mental retardation but without multiple exostoses; in both cases an interstitial deletion of 8q was found. The findings were interpreted to support the suggestion that TRPS II is due to deletion of 8q24.11-q24.13; that TRPS I patients have a deletion of band 8q24.12; and band 8q24.13 is involved in the development of exostoses. Mental retardation seems to be correlated with the size of the interstitial 8q deletion. <a href="#22" class="mim-tip-reference" title="Marchau, F. E., Van Roy, B. C., Parizel, P. M., Lambert, J. R., De Canck, I., Leroy, J. G., Gevaert, C. M., Willems, P. J., Dumon, J. E. &lt;strong&gt;Tricho-rhino-phalangeal syndrome type I (TRP I) due to an apparently balanced translocation involving 8q24.&lt;/strong&gt; Am. J. Med. Genet. 45: 450-455, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8465849/&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;8465849&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320450411&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="8465849">Marchau et al. (1993)</a> reported the cases of a brother and sister with TRPS I and an apparently balanced translocation involving 1 breakpoint at 8q24.11. The photograph of the father, who had died from an accident, showed very sparse scalp hair and a bulbous pear-shaped nose. He had short stature. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8465849+2784939+2373110" 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="Ludecke, H.-J., Wagner, M. J., Nardmann, J., La Pillo, B., Parrish, J. E., Willems, P. J., Haan, E. A., Frydman, M., Hamers, G. J. H., Wells, D. E., Horsthemke, B. &lt;strong&gt;Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer-Giedion syndrome.&lt;/strong&gt; Hum. Molec. Genet. 4: 31-36, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7711731/&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;7711731&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/4.1.31&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="7711731">Ludecke et al. (1995)</a> and <a href="#16" class="mim-tip-reference" title="Hou, J., Parrish, J., Ludecke, H.-J., Sapru, M., Wang, Y., Chen, W., Hill, A., Siegel-Bartelt, J., Northrup, H., Elder, F. F. B., Chinault, C., Horsthemke, B., Wagner, M. J., Wells, D. E. &lt;strong&gt;A 4-megabase YAC contig that spans the Langer-Giedion syndrome region on human chromosome 8q24.1: use in refining the location of the trichorhinophalangeal syndrome and multiple exostoses genes (TRPS1 and EXT1).&lt;/strong&gt; Genomics 29: 87-97, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8530105/&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;8530105&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1006/geno.1995.1218&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="8530105">Hou et al. (1995)</a> presented evidence that the Langer-Giedion syndrome is a contiguous gene syndrome due to loss of functional copies of both the TRPS1 and the EXT1 gene (<a href="/entry/608177">608177</a>) and that the EXT1 gene is distal to the TRPS1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7711731+8530105" 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 contrast to TRPS I patients, most TRPS II (Langer-Giedion syndrome) patients have cytogenetically visible deletions and are often mentally retarded. Using Southern blot and fluorescence in situ hybridization analysis, <a href="#27" class="mim-tip-reference" title="Nardmann, J., Tranebjaerg, L., Horsthemke, B., Ludecke, H.-J. &lt;strong&gt;The tricho-rhino-phalangeal syndromes: frequency and parental origin of 8q deletions.&lt;/strong&gt; Hum. Genet. 99: 638-643, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9150732/&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;9150732&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s004390050420&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="9150732">Nardmann et al. (1997)</a> searched for submicroscopic deletions in 12 patients with TRPS I and an apparently normal karyotype. One patient of normal intelligence was found to have a deletion of approximately 5 Mb. This suggested that mental retardation in TRPS is caused by genes outside the 5-Mb region. Using 3 Langer-Giedion critical region microsatellite markers, they determined the paternal origin of this TRPS I deletion and of 8 TRPS II deletions. In 6 patients, the deletion was of paternal origin and in 3 patients it was of maternal origin. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9150732" 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="#21" class="mim-tip-reference" title="Ludecke, H.-J., Wagner, M. J., Nardmann, J., La Pillo, B., Parrish, J. E., Willems, P. J., Haan, E. A., Frydman, M., Hamers, G. J. H., Wells, D. E., Horsthemke, B. &lt;strong&gt;Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer-Giedion syndrome.&lt;/strong&gt; Hum. Molec. Genet. 4: 31-36, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7711731/&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;7711731&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/4.1.31&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="7711731">Ludecke et al. (1995)</a> and <a href="#16" class="mim-tip-reference" title="Hou, J., Parrish, J., Ludecke, H.-J., Sapru, M., Wang, Y., Chen, W., Hill, A., Siegel-Bartelt, J., Northrup, H., Elder, F. F. B., Chinault, C., Horsthemke, B., Wagner, M. J., Wells, D. E. &lt;strong&gt;A 4-megabase YAC contig that spans the Langer-Giedion syndrome region on human chromosome 8q24.1: use in refining the location of the trichorhinophalangeal syndrome and multiple exostoses genes (TRPS1 and EXT1).&lt;/strong&gt; Genomics 29: 87-97, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8530105/&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;8530105&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1006/geno.1995.1218&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="8530105">Hou et al. (1995)</a> assigned the TRPS1 locus to 8q24. It maps centromeric to the EXT1 gene, which is mutant in multiple exostoses type I (<a href="/entry/133700">133700</a>); EXT1 is deleted in all patients with TRPS type II, or Langer-Giedion syndrome (<a href="/entry/150230">150230</a>), which combines features of TRPS I and multiple exostoses. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7711731+8530105" 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>Starting from the location of the TRPS1 gene on 8q24, <a href="#25" class="mim-tip-reference" title="Momeni, P., Glockner, G., Schmidt, O., von Holtum, D., Albrecht, B., Gillessen-Kaesbach, G., Hennekam, R., Meinecke, P., Zabel, B., Rosenthal, A., Horsthemke, B., Ludecke, H.-J. &lt;strong&gt;Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I.&lt;/strong&gt; Nature Genet. 24: 71-74, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10615131/&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;10615131&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/71717&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="10615131">Momeni et al. (2000)</a> positionally cloned a gene that spans the chromosomal breakpoint of 2 patients with TRPS I and was deleted in 5 patients with TRPS I combined with an interstitial deletion. In 10 unrelated patients, <a href="#25" class="mim-tip-reference" title="Momeni, P., Glockner, G., Schmidt, O., von Holtum, D., Albrecht, B., Gillessen-Kaesbach, G., Hennekam, R., Meinecke, P., Zabel, B., Rosenthal, A., Horsthemke, B., Ludecke, H.-J. &lt;strong&gt;Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I.&lt;/strong&gt; Nature Genet. 24: 71-74, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10615131/&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;10615131&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/71717&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="10615131">Momeni et al. (2000)</a> identified 6 different nonsense mutations in the TRPS1 gene (<a href="/entry/604386">604386</a>). The findings suggested that haploinsufficiency for this putative transcription factor causes TRPS I. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10615131" 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>Although <a href="#9" class="mim-tip-reference" title="Giedion, A., Burdea, M., Fruchter, Z., Meloni, T., Trosc, V. &lt;strong&gt;Autosomal dominant transmission of the tricho-rhino-phalangeal syndrome: report of 4 unrelated families, review of 60 cases.&lt;/strong&gt; Helv. Paediat. Acta 28: 249-259, 1973.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4723882/&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;4723882&lt;/a&gt;]" pmid="4723882">Giedion et al. (1973)</a> concluded that a recessive form of TRPS I probably exists, the isolation of TRPS1, a putative transcription factor zinc finger protein that shows its effects in single dose, indicates that haploinsufficiency of this gene causes the condition which, therefore, is inherited as an autosomal dominant. Of the 6 patients in whom mutations were identified by <a href="#25" class="mim-tip-reference" title="Momeni, P., Glockner, G., Schmidt, O., von Holtum, D., Albrecht, B., Gillessen-Kaesbach, G., Hennekam, R., Meinecke, P., Zabel, B., Rosenthal, A., Horsthemke, B., Ludecke, H.-J. &lt;strong&gt;Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I.&lt;/strong&gt; Nature Genet. 24: 71-74, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10615131/&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;10615131&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/71717&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="10615131">Momeni et al. (2000)</a>, 3 were familial and 3 were sporadic; all 6 showed heterozygosity for a mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4723882+10615131" 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>Trichorhinophalangeal syndrome type III (TRPS3; <a href="/entry/190351">190351</a>) differs from TRPS I by the presence of severe brachydactyly, due to short metacarpals, and severe short stature. To investigate whether TRPS III is caused by TRPS1 mutations and to establish a genotype-phenotype correlation in TRPS, <a href="#20" class="mim-tip-reference" title="Ludecke, H.-J., Schaper, J., Meinecke, P., Momeni, P., Gross, S., von Holtum, D., Hirche, H., Abramowicz, M. J., Albrecht, B., Apacik, C., Christen, H.-J., Claussen, U., and 28 others. &lt;strong&gt;Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.&lt;/strong&gt; Am. J. Hum. Genet. 68: 81-91, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11112658/&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;11112658&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=11112658[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/10.1086/316926&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="11112658">Ludecke et al. (2001)</a> performed extensive mutation analysis and evaluated height and degree of brachydactyly in patients with TRPS I or TRPS III. They found 35 different mutations in 44 of 51 unrelated patients. The detection rate (86%) indicated that TRPS1 is the major locus for TRPS I and TRPS III. They found no mutation in the parents of sporadic patients or in apparently healthy relatives of familial patients, indicating complete penetrance of TRPS1 mutations. Evaluation of skeletal abnormalities of patients with TRPS1 mutations revealed a wide clinical spectrum. The phenotype was variable in unrelated, age- and sex-matched patients with identical mutations, as well as in families. Four of the 5 missense mutations altered the GATA DNA-binding zinc finger, and 6 of the 7 unrelated patients with these mutations could be classified as having TRPS III because they had severe brachydactyly, due to short metacarpals, and severe short stature. The data indicated that TRPS III is at the severe end of the TRPS spectrum and that it is most often caused by a specific class of mutations in the TRPS1 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11112658" 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="seeAlso" class="mim-anchor"></a>
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<strong>See Also:</strong>
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<a href="#Felman1977" class="mim-tip-reference" title="Felman, A. H., Frias, J. L. &lt;strong&gt;Trichorhinophalangeal syndrome--study of 16 patients in one family.&lt;/strong&gt; Am. J. Roentgen. 129: 631-638, 1977.">Felman and Frias (1977)</a>; <a href="#Ferrandez1980" class="mim-tip-reference" title="Ferrandez, A., Remirez, J., Saenz, P., Calvo, M. &lt;strong&gt;The trichorhinophalangeal syndrome: report of 4 familial cases belonging to 4 generations.&lt;/strong&gt; Helv. Paediat. Acta 35: 559-567, 1980.">Ferrandez et al. (1980)</a>; <a href="#Giedion1968" class="mim-tip-reference" title="Giedion, A. &lt;strong&gt;Zapfenepiphysen. Naturgeschichte und diagnostische Bedeutung einer Stoerung des enchondralen Wachstums.&lt;/strong&gt; Ergeb. Med. Radiol. 8: 59-124, 1968.">Giedion (1968)</a>; <a href="#Goodman1981" class="mim-tip-reference" title="Goodman, R. M., Trilling, R., Hertz, M., Horoszowski, H., Merlob, P., Reisner, S. &lt;strong&gt;New clinical observations in the trichorhinophalangeal syndrome.&lt;/strong&gt; J. Craniofac. Genet. Dev. Biol. 1: 15-29, 1981.">Goodman et al. (1981)</a>; <a href="#Howell1986" class="mim-tip-reference" title="Howell, C. J., Wynne-Davies, R. &lt;strong&gt;The tricho-rhino-phalangeal syndrome: a report of 14 cases in 7 kindreds.&lt;/strong&gt; J. Bone Joint Surg. Br. 68: 311-314, 1986.">Howell and Wynne-Davies (1986)</a>; <a href="#McCloud1977" class="mim-tip-reference" title="McCloud, D. J., Solomon, L. M. &lt;strong&gt;The tricho-rhino-phalangeal syndrome.&lt;/strong&gt; Brit. J. Derm. 96: 403-407, 1977.">McCloud and
Solomon (1977)</a>; <a href="#Peltola1978" class="mim-tip-reference" title="Peltola, J., Kuokkanen, K. &lt;strong&gt;Tricho-rhino-phalangeal syndrome in five successive generations: report on a family in Finland.&lt;/strong&gt; Acta Derm. Venerol. 58: 65-68, 1978.">Peltola and Kuokkanen (1978)</a>; <a href="#Sugiura1978" class="mim-tip-reference" title="Sugiura, Y. &lt;strong&gt;Tricho-rhino-phalangeal syndrome associated with Perthes-disease-like bone change and spondylolisthesis.&lt;/strong&gt; Jpn. J. Hum. Genet. 23: 23-30, 1978.">Sugiura (1978)</a>; <a href="#Weaver1974" class="mim-tip-reference" title="Weaver, D. D., Cohen, M. M., Smith, D. W. &lt;strong&gt;The tricho-rhino-phalangeal syndrome.&lt;/strong&gt; J. Med. Genet. 11: 312-314, 1974.">Weaver
et al. (1974)</a>
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<a id="references"class="mim-anchor"></a>
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
<a id="Armour2016" class="mim-anchor"></a>
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Armour, C. M., Smith, A., Hartley, T., Chardon, J. W., Sawyer, S., Schwartzentruber, J., Hennekam, R., Majewski, J., Bulman, D. E., FORGE Canada Consortium, Suri, M., Boycott, K. M.
<strong>Syndrome disintegration: exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events.</strong>
Am. J. Med. Genet. 170A: 1820-1825, 2016.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27133561/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27133561</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27133561" 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.a.37684" target="_blank">Full Text</a>]
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<a id="Beals1973" class="mim-anchor"></a>
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Beals, R. K.
<strong>Tricho-rhino-phalangeal dysplasia: report of a kindred.</strong>
J. Bone Joint Surg. Am. 55: 821-826, 1973.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4283755/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4283755</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4283755" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Booth1981" class="mim-anchor"></a>
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Booth, C. W., Maurer, W. F.
<strong>De novo 9:11 translocation in a sporadic case of trichorhinophalangeal (I) syndrome. (Abstract)</strong>
Pediat. Res. 15: 559 only, 1981.
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<a id="Buhler1987" class="mim-anchor"></a>
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Buhler, E. M., Buhler, U. K., Beutler, C., Fessler, R.
<strong>A final word on the tricho-rhino-phalangeal syndromes.</strong>
Clin. Genet. 31: 273-275, 1987.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3594935/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3594935</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3594935" 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.1399-0004.1987.tb02806.x" target="_blank">Full Text</a>]
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<a id="Felman1977" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Felman, A. H., Frias, J. L.
<strong>Trichorhinophalangeal syndrome--study of 16 patients in one family.</strong>
Am. J. Roentgen. 129: 631-638, 1977.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/409236/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">409236</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=409236" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.2214/ajr.129.4.631" target="_blank">Full Text</a>]
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<a id="Ferrandez1980" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Ferrandez, A., Remirez, J., Saenz, P., Calvo, M.
<strong>The trichorhinophalangeal syndrome: report of 4 familial cases belonging to 4 generations.</strong>
Helv. Paediat. Acta 35: 559-567, 1980.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7204100/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7204100</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7204100" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<a id="7" class="mim-anchor"></a>
<a id="Fitzsimmons1987" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Fitzsimmons, J. S., Guilbert, P. R.
<strong>Spastic paraplegia associated with brachydactyly and cone shaped epiphyses.</strong>
J. Med. Genet. 24: 702-705, 1987.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3430547/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3430547</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3430547" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmg.24.11.702" target="_blank">Full Text</a>]
</p>
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<a id="Fryns1986" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Fryns, J. P., Van den Berghe, H.
<strong>8q24.12 interstitial deletion in trichorhinophalangeal syndrome type I.</strong>
Hum. Genet. 74: 188-189, 1986.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3490425/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3490425</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3490425" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00282091" target="_blank">Full Text</a>]
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<a id="Giedion1973" class="mim-anchor"></a>
<div class="">
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<strong>Autosomal dominant transmission of the tricho-rhino-phalangeal syndrome: report of 4 unrelated families, review of 60 cases.</strong>
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<strong>Tricho-rhino-phalangeal syndrome without exostoses, with an interstitial deletion of 8q23.</strong>
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[<a href="https://doi.org/10.1111/j.1399-0004.1986.tb00517.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320320412" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF02034746" target="_blank">Full Text</a>]
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<strong>A 4-megabase YAC contig that spans the Langer-Giedion syndrome region on human chromosome 8q24.1: use in refining the location of the trichorhinophalangeal syndrome and multiple exostoses genes (TRPS1 and EXT1).</strong>
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[<a href="https://doi.org/10.1006/geno.1995.1218" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1302/0301-620X.68B2.3958020" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.33511" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1086/316926" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/4.1.31" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320450411" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1365-2133.1977.tb07136.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/71717" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/s004390050420" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00284059" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.22.4.314" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0140-6736(59)91137-7" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.11.3.312" target="_blank">Full Text</a>]
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<strong>Prometaphase chromosomes in the tricho-rhino-phalangeal syndrome type I.</strong>
Am. J. Med. Genet. 32: 524-527, 1989.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2773997/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2773997</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2773997" 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.1320320420" target="_blank">Full Text</a>]
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<a id="36" class="mim-anchor"></a>
<a id="Yamamoto1989" class="mim-anchor"></a>
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Yamamoto, Y., Oguro, N., Miyao, M., Yanagisawa, M.
<strong>Tricho-rhino-phalangeal syndrome type I with severe mental retardation due to interstitial deletion of 8q23.3-24.13.</strong>
Am. J. Med. Genet. 32: 133-135, 1989.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2784939/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2784939</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2784939" 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.1320320128" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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Cassandra L. Kniffin - updated : 5/10/2016
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Cassandra L. Kniffin - updated : 1/11/2011<br>Victor A. McKusick - updated : 1/23/2001<br>Victor A. McKusick - updated : 12/27/1999<br>Victor A. McKusick - updated : 5/16/1997
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Creation Date:
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Victor A. McKusick : 6/2/1986
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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carol : 04/01/2020
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carol : 03/31/2020<br>carol : 07/09/2016<br>carol : 6/21/2016<br>carol : 5/12/2016<br>carol : 5/11/2016<br>ckniffin : 5/10/2016<br>wwang : 2/1/2011<br>terry : 1/13/2011<br>ckniffin : 1/11/2011<br>terry : 2/9/2009<br>carol : 8/1/2006<br>joanna : 3/20/2006<br>alopez : 3/18/2005<br>alopez : 3/18/2005<br>ckniffin : 10/30/2003<br>carol : 1/23/2001<br>alopez : 12/29/1999<br>terry : 12/27/1999<br>mark : 5/24/1997<br>terry : 5/16/1997<br>mark : 10/3/1995<br>mimadm : 6/7/1995<br>davew : 8/15/1994<br>terry : 4/27/1994<br>warfield : 3/7/1994<br>carol : 2/24/1993
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<strong>#</strong> 190350
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<span class="mim-font">
TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1
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<em>Alternative titles; symbols</em>
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TRPS I
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<strong>SNOMEDCT:</strong> 254091006; &nbsp;
<strong>ORPHA:</strong> 77258; &nbsp;
<strong>DO:</strong> 14743; &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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<span class="mim-font">
8q23.3
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Trichorhinophalangeal syndrome, type I
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190350
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Autosomal dominant
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3
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TRPS1
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604386
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that trichorhinophalangeal syndrome type I (TRPS1) is caused by heterozygous mutation in the TRPS1 gene (604386) on chromosome 8q23. Mutation in the same gene has been found to cause TRPS III (TRPS3; 190351).</p>
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<strong>Description</strong>
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<p>Trichorhinophalangeal syndrome type I (TRPS1) is an autosomal dominant malformation syndrome characterized by distinctive craniofacial and skeletal abnormalities. TRPS I patients have sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature (summary by Momeni et al., 2000). </p>
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<strong>Clinical Features</strong>
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<p>Giedion (1966) delineated a syndrome consisting of thin and slowly growing hair, pear-shaped nose with high philtrum, brachyphalangy with deformation of the fingers and wedge-shaped epiphyses. Giedion's patient, a girl, had 2 supernumerary incisors. He found 2 previous reports, each describing 2 affected sibs. The parents in 1 of the families were consanguineous. One of the pairs of affected sibs was reported as pseudo-pseudohypoparathyroidism (van der Werff Ten Bosch, 1959). </p><p>Hussels (1971) observed affected brother and sister whose parents were not related and allegedly were unaffected, but the father was not available for examination.</p><p>Murdoch (1969) reported a family in which a grandfather, son, and grandson had TRPS1. The earliest affected male died at age 43 years of a cerebrovascular accident. Beals (1973) described a family in which the father and 2 of 4 children, a male and a female, were affected. </p><p>Three Japanese families in which 19 persons were affected with TRPS1 in a clear autosomal dominant pedigree pattern were reported by Sugiura et al. (1976).</p><p>Izumi et al. (2010) reported a 31-year-old man of Native American and Puerto Rican descent who presented with adult-onset chronic joint pain in his neck, back, hips, knees, and ankles. Physical and radiographic examination showed facial and skeletal features consistent with TRPS type I, and the diagnosis was confirmed by molecular testing. Facial features included low-set, posteriorly rotated ears, prominent malar eminence and orbital ridge, bulbous nose, hypoplastic nasi alae nasi, hypotrichosis, and long philtrum. He also had brachydactyly, wide halluces, and flat arches. Radiographs showed vertebral spondylosis, scoliosis, spondylolisthesis, shortening of the phalanges, osteophyte formation, osteopenia, and secondary arthritic changes. Cone-shaped epiphyses were not observed. Family history revealed that his mother had alopecia and chronic multiple joint pain. The proband had clinical evidence of hypogonadism and mild vitamin D insufficiency, which could contribute to osteopenia, but Izumi et al. (2010) concluded that the skeletal features were secondary to TRPS type I. The findings suggested that progressive osteopenia and osteoarthritis are part of the phenotype in older patients with TRPS type I. </p><p><strong><em>Clinical Variability</em></strong></p><p>
Armour et al. (2016) reevaluated 2 male twins who were originally reported by Fitzsimmons and Guilbert (1987) as having early-onset slowly progressive spastic paraplegia, dysarthria, and low-normal intellectual capacity. In addition, both patients had skeletal abnormalities of the hands and feet: brachydactyly, cone-shaped epiphyses, and an abnormal metaphyseal-phalangeal pattern profile. Fitzsimmons and Guilbert (1987) concluded that the patients had a novel syndrome, which was later designated 'Fitzsimmons-Guilbert syndrome;' however, exome sequencing performed by Armour et al. (2016) found that the patients were compound heterozygous for mutations in the SACS gene, resulting in the correct diagnosis of autosomal recessive spastic ataxia-6 (SACS, SPAX6; 270550). The patients also carried a heterozygous truncating mutation in the TRPS1 gene (604386), consistent with a diagnosis of type I trichorhinophalangeal syndrome. Thus, the patients had 2 different genetic diseases that explained the unusual phenotype. </p>
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<strong>Inheritance</strong>
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<p>McKusick (1972) noted that autosomal dominant inheritance of TRPS I was established by the report of Murdoch (1969) in which a grandfather, son, and grandson were affected.</p>
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<strong>Cytogenetics</strong>
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<p>Booth and Maurer (1981) described a sporadic case of this disorder in a girl with de novo 9;11 translocation (p22;q21).</p><p>Trichorhinophalangeal syndrome type II (TRPS2), or Langer-Giedion syndrome (150230), a similar disorder with the additional features of multiple exostoses and mental retardation, often has abnormality of chromosome 8.</p><p>Sanchez et al. (1985) described a complex chromosome rearrangement in a boy with TRPS I. Skeletal x-rays were normal. The breakpoints in chromosome 8 were at p22 and q13. Goldblatt and Smart (1986) reported a case of TRPS I without exostoses and with a partial microdeletion of 8q23. This is further support for the notion that the Langer-Giedion syndrome is the consequence of deletion or other mutation of 2 or more independent loci, one of which 'causes' exostoses and the other TRPS. Fryns and Van den Berghe (1986) reported a patient with TRPS I and a small interstitial deletion of 8q24.12. Buhler et al. (1987) concluded that the Langer-Giedion syndrome is due to a deletion extending from 8q24.11 to 8q24.13, whereas TRPS I is caused by an even smaller deleted segment, namely, 8q24.12. Buhler et al. (1987) described a case of TRPS I with a mosaic deletion of that band. </p><p>Haan et al. (1989) studied a family with an inherited rearrangement of 8q in which persons with the chromosome abnormality had manifestations of both TRPS and the branchiootic syndrome (113650). One breakpoint in the abnormality in this family involved 8q24.11, which is consistent with the previously deduced location of the TRPS gene. Haan et al. (1989) suggested that the gene for the branchiootic syndrome may map to either 8q13.3 or 8q21.13, the 2 other breakpoint sites in this family's chromosome aberration. It was thought that there was no deleted material in this family. Yamamoto et al. (1989) found no evidence of deletion in a study of the chromosomes at the 850-bands stage in a patient with typical familial TRPS I. Naritomi and Hirayama (1989) described a mother and daughter with mild features of TRPS I. Neither had exostosis, microcephaly, or mental retardation. The mother was a mosaic for an 8q23.3-q24.13 deletion. The daughter had a more complex rearrangement of chromosome 8 resulting in partial trisomy of distal 8q. The daughter, however, showed no features of the trisomy 8 syndrome and was a little more affected than the mother. </p><p>Yamamoto et al. (1989) and Hamers et al. (1990) independently reported cases of TRPS I with severe mental retardation but without multiple exostoses; in both cases an interstitial deletion of 8q was found. The findings were interpreted to support the suggestion that TRPS II is due to deletion of 8q24.11-q24.13; that TRPS I patients have a deletion of band 8q24.12; and band 8q24.13 is involved in the development of exostoses. Mental retardation seems to be correlated with the size of the interstitial 8q deletion. Marchau et al. (1993) reported the cases of a brother and sister with TRPS I and an apparently balanced translocation involving 1 breakpoint at 8q24.11. The photograph of the father, who had died from an accident, showed very sparse scalp hair and a bulbous pear-shaped nose. He had short stature. </p><p>Ludecke et al. (1995) and Hou et al. (1995) presented evidence that the Langer-Giedion syndrome is a contiguous gene syndrome due to loss of functional copies of both the TRPS1 and the EXT1 gene (608177) and that the EXT1 gene is distal to the TRPS1 gene. </p><p>In contrast to TRPS I patients, most TRPS II (Langer-Giedion syndrome) patients have cytogenetically visible deletions and are often mentally retarded. Using Southern blot and fluorescence in situ hybridization analysis, Nardmann et al. (1997) searched for submicroscopic deletions in 12 patients with TRPS I and an apparently normal karyotype. One patient of normal intelligence was found to have a deletion of approximately 5 Mb. This suggested that mental retardation in TRPS is caused by genes outside the 5-Mb region. Using 3 Langer-Giedion critical region microsatellite markers, they determined the paternal origin of this TRPS I deletion and of 8 TRPS II deletions. In 6 patients, the deletion was of paternal origin and in 3 patients it was of maternal origin. </p>
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<span class="mim-font">
<strong>Mapping</strong>
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<p>Ludecke et al. (1995) and Hou et al. (1995) assigned the TRPS1 locus to 8q24. It maps centromeric to the EXT1 gene, which is mutant in multiple exostoses type I (133700); EXT1 is deleted in all patients with TRPS type II, or Langer-Giedion syndrome (150230), which combines features of TRPS I and multiple exostoses. </p>
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<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
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<p>Starting from the location of the TRPS1 gene on 8q24, Momeni et al. (2000) positionally cloned a gene that spans the chromosomal breakpoint of 2 patients with TRPS I and was deleted in 5 patients with TRPS I combined with an interstitial deletion. In 10 unrelated patients, Momeni et al. (2000) identified 6 different nonsense mutations in the TRPS1 gene (604386). The findings suggested that haploinsufficiency for this putative transcription factor causes TRPS I. </p><p>Although Giedion et al. (1973) concluded that a recessive form of TRPS I probably exists, the isolation of TRPS1, a putative transcription factor zinc finger protein that shows its effects in single dose, indicates that haploinsufficiency of this gene causes the condition which, therefore, is inherited as an autosomal dominant. Of the 6 patients in whom mutations were identified by Momeni et al. (2000), 3 were familial and 3 were sporadic; all 6 showed heterozygosity for a mutation. </p>
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<span class="mim-font">
<strong>Genotype/Phenotype Correlations</strong>
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<p>Trichorhinophalangeal syndrome type III (TRPS3; 190351) differs from TRPS I by the presence of severe brachydactyly, due to short metacarpals, and severe short stature. To investigate whether TRPS III is caused by TRPS1 mutations and to establish a genotype-phenotype correlation in TRPS, Ludecke et al. (2001) performed extensive mutation analysis and evaluated height and degree of brachydactyly in patients with TRPS I or TRPS III. They found 35 different mutations in 44 of 51 unrelated patients. The detection rate (86%) indicated that TRPS1 is the major locus for TRPS I and TRPS III. They found no mutation in the parents of sporadic patients or in apparently healthy relatives of familial patients, indicating complete penetrance of TRPS1 mutations. Evaluation of skeletal abnormalities of patients with TRPS1 mutations revealed a wide clinical spectrum. The phenotype was variable in unrelated, age- and sex-matched patients with identical mutations, as well as in families. Four of the 5 missense mutations altered the GATA DNA-binding zinc finger, and 6 of the 7 unrelated patients with these mutations could be classified as having TRPS III because they had severe brachydactyly, due to short metacarpals, and severe short stature. The data indicated that TRPS III is at the severe end of the TRPS spectrum and that it is most often caused by a specific class of mutations in the TRPS1 gene. </p>
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<h4>
<span class="mim-font">
<strong>See Also:</strong>
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</h4>
<span class="mim-text-font">
Felman and Frias (1977); Ferrandez et al. (1980); Giedion (1968);
Goodman et al. (1981); Howell and Wynne-Davies (1986); McCloud and
Solomon (1977); Peltola and Kuokkanen (1978); Sugiura (1978); Weaver
et al. (1974)
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<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
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<div>
<ol>
<li>
<p class="mim-text-font">
Armour, C. M., Smith, A., Hartley, T., Chardon, J. W., Sawyer, S., Schwartzentruber, J., Hennekam, R., Majewski, J., Bulman, D. E., FORGE Canada Consortium, Suri, M., Boycott, K. M.
<strong>Syndrome disintegration: exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events.</strong>
Am. J. Med. Genet. 170A: 1820-1825, 2016.
[PubMed: 27133561]
[Full Text: https://doi.org/10.1002/ajmg.a.37684]
</p>
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<li>
<p class="mim-text-font">
Beals, R. K.
<strong>Tricho-rhino-phalangeal dysplasia: report of a kindred.</strong>
J. Bone Joint Surg. Am. 55: 821-826, 1973.
[PubMed: 4283755]
</p>
</li>
<li>
<p class="mim-text-font">
Booth, C. W., Maurer, W. F.
<strong>De novo 9:11 translocation in a sporadic case of trichorhinophalangeal (I) syndrome. (Abstract)</strong>
Pediat. Res. 15: 559 only, 1981.
</p>
</li>
<li>
<p class="mim-text-font">
Buhler, E. M., Buhler, U. K., Beutler, C., Fessler, R.
<strong>A final word on the tricho-rhino-phalangeal syndromes.</strong>
Clin. Genet. 31: 273-275, 1987.
[PubMed: 3594935]
[Full Text: https://doi.org/10.1111/j.1399-0004.1987.tb02806.x]
</p>
</li>
<li>
<p class="mim-text-font">
Felman, A. H., Frias, J. L.
<strong>Trichorhinophalangeal syndrome--study of 16 patients in one family.</strong>
Am. J. Roentgen. 129: 631-638, 1977.
[PubMed: 409236]
[Full Text: https://doi.org/10.2214/ajr.129.4.631]
</p>
</li>
<li>
<p class="mim-text-font">
Ferrandez, A., Remirez, J., Saenz, P., Calvo, M.
<strong>The trichorhinophalangeal syndrome: report of 4 familial cases belonging to 4 generations.</strong>
Helv. Paediat. Acta 35: 559-567, 1980.
[PubMed: 7204100]
</p>
</li>
<li>
<p class="mim-text-font">
Fitzsimmons, J. S., Guilbert, P. R.
<strong>Spastic paraplegia associated with brachydactyly and cone shaped epiphyses.</strong>
J. Med. Genet. 24: 702-705, 1987.
[PubMed: 3430547]
[Full Text: https://doi.org/10.1136/jmg.24.11.702]
</p>
</li>
<li>
<p class="mim-text-font">
Fryns, J. P., Van den Berghe, H.
<strong>8q24.12 interstitial deletion in trichorhinophalangeal syndrome type I.</strong>
Hum. Genet. 74: 188-189, 1986.
[PubMed: 3490425]
[Full Text: https://doi.org/10.1007/BF00282091]
</p>
</li>
<li>
<p class="mim-text-font">
Giedion, A., Burdea, M., Fruchter, Z., Meloni, T., Trosc, V.
<strong>Autosomal dominant transmission of the tricho-rhino-phalangeal syndrome: report of 4 unrelated families, review of 60 cases.</strong>
Helv. Paediat. Acta 28: 249-259, 1973.
[PubMed: 4723882]
</p>
</li>
<li>
<p class="mim-text-font">
Giedion, A.
<strong>Das Tricho-rhino-phalangeal Syndrom.</strong>
Helv. Paediat. Acta 21: 475-482, 1966.
[PubMed: 5991804]
</p>
</li>
<li>
<p class="mim-text-font">
Giedion, A.
<strong>Zapfenepiphysen. Naturgeschichte und diagnostische Bedeutung einer Stoerung des enchondralen Wachstums.</strong>
Ergeb. Med. Radiol. 8: 59-124, 1968.
</p>
</li>
<li>
<p class="mim-text-font">
Goldblatt, J., Smart, R. D.
<strong>Tricho-rhino-phalangeal syndrome without exostoses, with an interstitial deletion of 8q23.</strong>
Clin. Genet. 29: 434-438, 1986.
[PubMed: 3742850]
[Full Text: https://doi.org/10.1111/j.1399-0004.1986.tb00517.x]
</p>
</li>
<li>
<p class="mim-text-font">
Goodman, R. M., Trilling, R., Hertz, M., Horoszowski, H., Merlob, P., Reisner, S.
<strong>New clinical observations in the trichorhinophalangeal syndrome.</strong>
J. Craniofac. Genet. Dev. Biol. 1: 15-29, 1981.
[PubMed: 7341639]
</p>
</li>
<li>
<p class="mim-text-font">
Haan, E. A., Hull, Y. J., White, S., Cockington, R., Charlton, P., Callen, D. F.
<strong>Tricho-rhino-phalangeal and branchio-oto syndromes in a family with an inherited rearrangement of chromosome 8q.</strong>
Am. J. Med. Genet. 32: 490-494, 1989.
[PubMed: 2773990]
[Full Text: https://doi.org/10.1002/ajmg.1320320412]
</p>
</li>
<li>
<p class="mim-text-font">
Hamers, A., Jongbloet, P., Peeters, G., Fryns, J. P., Geraedts, J.
<strong>Severe mental retardation in a patient with tricho-rhino-phalangeal syndrome type I and 8q deletion.</strong>
Europ. J. Pediat. 149: 618-620, 1990.
[PubMed: 2373110]
[Full Text: https://doi.org/10.1007/BF02034746]
</p>
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<li>
<p class="mim-text-font">
Hou, J., Parrish, J., Ludecke, H.-J., Sapru, M., Wang, Y., Chen, W., Hill, A., Siegel-Bartelt, J., Northrup, H., Elder, F. F. B., Chinault, C., Horsthemke, B., Wagner, M. J., Wells, D. E.
<strong>A 4-megabase YAC contig that spans the Langer-Giedion syndrome region on human chromosome 8q24.1: use in refining the location of the trichorhinophalangeal syndrome and multiple exostoses genes (TRPS1 and EXT1).</strong>
Genomics 29: 87-97, 1995.
[PubMed: 8530105]
[Full Text: https://doi.org/10.1006/geno.1995.1218]
</p>
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<p class="mim-text-font">
Howell, C. J., Wynne-Davies, R.
<strong>The tricho-rhino-phalangeal syndrome: a report of 14 cases in 7 kindreds.</strong>
J. Bone Joint Surg. Br. 68: 311-314, 1986.
[PubMed: 3958020]
[Full Text: https://doi.org/10.1302/0301-620X.68B2.3958020]
</p>
</li>
<li>
<p class="mim-text-font">
Hussels, I. E.
<strong>Trichorhinophalangeal syndrome in two sibs.</strong>
Birth Defects Orig. Art. Ser. VII(7): 301-303, 1971.
</p>
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<li>
<p class="mim-text-font">
Izumi, K., Takagi, M., Parikh, A. S., Hahn, A., Miskovsky, S. N., Nishimura, G., Torii, C., Kosaki, K., Hasegawa, T., Neilson, D. E.
<strong>Late manifestations of tricho-rhino-pharangeal (sic) syndrome in a patient: expanded skeletal phenotype in adulthood. (Letter)</strong>
Am. J. Med. Genet. 152A: 2115-2119, 2010.
[PubMed: 20635356]
[Full Text: https://doi.org/10.1002/ajmg.a.33511]
</p>
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<li>
<p class="mim-text-font">
Ludecke, H.-J., Schaper, J., Meinecke, P., Momeni, P., Gross, S., von Holtum, D., Hirche, H., Abramowicz, M. J., Albrecht, B., Apacik, C., Christen, H.-J., Claussen, U., and 28 others.
<strong>Genotypic and phenotypic spectrum in tricho-rhino-phalangeal syndrome types I and III.</strong>
Am. J. Hum. Genet. 68: 81-91, 2001.
[PubMed: 11112658]
[Full Text: https://doi.org/10.1086/316926]
</p>
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<p class="mim-text-font">
Ludecke, H.-J., Wagner, M. J., Nardmann, J., La Pillo, B., Parrish, J. E., Willems, P. J., Haan, E. A., Frydman, M., Hamers, G. J. H., Wells, D. E., Horsthemke, B.
<strong>Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer-Giedion syndrome.</strong>
Hum. Molec. Genet. 4: 31-36, 1995.
[PubMed: 7711731]
[Full Text: https://doi.org/10.1093/hmg/4.1.31]
</p>
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<li>
<p class="mim-text-font">
Marchau, F. E., Van Roy, B. C., Parizel, P. M., Lambert, J. R., De Canck, I., Leroy, J. G., Gevaert, C. M., Willems, P. J., Dumon, J. E.
<strong>Tricho-rhino-phalangeal syndrome type I (TRP I) due to an apparently balanced translocation involving 8q24.</strong>
Am. J. Med. Genet. 45: 450-455, 1993.
[PubMed: 8465849]
[Full Text: https://doi.org/10.1002/ajmg.1320450411]
</p>
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<li>
<p class="mim-text-font">
McCloud, D. J., Solomon, L. M.
<strong>The tricho-rhino-phalangeal syndrome.</strong>
Brit. J. Derm. 96: 403-407, 1977.
[PubMed: 861178]
[Full Text: https://doi.org/10.1111/j.1365-2133.1977.tb07136.x]
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<li>
<p class="mim-text-font">
McKusick, V. A.
<strong>Heritable Disorders of Connective Tissue. (4th ed.)</strong>
St. Louis: C. V. Mosby (pub.) 1972. Note: Fig. 13-38.
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Momeni, P., Glockner, G., Schmidt, O., von Holtum, D., Albrecht, B., Gillessen-Kaesbach, G., Hennekam, R., Meinecke, P., Zabel, B., Rosenthal, A., Horsthemke, B., Ludecke, H.-J.
<strong>Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I.</strong>
Nature Genet. 24: 71-74, 2000.
[PubMed: 10615131]
[Full Text: https://doi.org/10.1038/71717]
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Murdoch, J. L.
<strong>Tricho-rhino-phalangeal dysplasia with possible autosomal dominant transmission.</strong>
Birth Defects Orig. Art. Ser. V(2): 218-220, 1969.
</p>
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Nardmann, J., Tranebjaerg, L., Horsthemke, B., Ludecke, H.-J.
<strong>The tricho-rhino-phalangeal syndromes: frequency and parental origin of 8q deletions.</strong>
Hum. Genet. 99: 638-643, 1997.
[PubMed: 9150732]
[Full Text: https://doi.org/10.1007/s004390050420]
</p>
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Naritomi, K., Hirayama, K.
<strong>Partial trisomy of distal 8q derived from mother with mosaic 8q23.3-24.13 deletion, and relatively mild expression of trichorhinophalangeal syndrome I.</strong>
Hum. Genet. 82: 199-201, 1989.
[PubMed: 2722199]
[Full Text: https://doi.org/10.1007/BF00284059]
</p>
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<p class="mim-text-font">
Peltola, J., Kuokkanen, K.
<strong>Tricho-rhino-phalangeal syndrome in five successive generations: report on a family in Finland.</strong>
Acta Derm. Venerol. 58: 65-68, 1978.
[PubMed: 75637]
</p>
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Sanchez, J. M., Labarta, J. D., De Negrotti, T. C., Migliorini, A. M.
<strong>Complex translocation in a boy with trichorhinophalangeal syndrome.</strong>
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[PubMed: 4045963]
[Full Text: https://doi.org/10.1136/jmg.22.4.314]
</p>
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Sugiura, Y., Shionoya, M., Inoue, T., Tsuruta, T.
<strong>Tricho-rhino-phalangeal syndrome: report on three unrelated families.</strong>
Jpn. J. Hum. Genet. 21: 13-22, 1976.
</p>
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Sugiura, Y.
<strong>Tricho-rhino-phalangeal syndrome associated with Perthes-disease-like bone change and spondylolisthesis.</strong>
Jpn. J. Hum. Genet. 23: 23-30, 1978.
</p>
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Van der Werff Ten Bosch, J. J.
<strong>The syndrome of brachymetacarpal dwarfism (&#x27;pseudo-pseudohypoparathyroidism&#x27;) with and without gonadal dysgenesis.</strong>
Lancet 273: 69-71, 1959. Note: Originally Volume I.
[PubMed: 13621640]
[Full Text: https://doi.org/10.1016/s0140-6736(59)91137-7]
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Weaver, D. D., Cohen, M. M., Smith, D. W.
<strong>The tricho-rhino-phalangeal syndrome.</strong>
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[PubMed: 4431036]
[Full Text: https://doi.org/10.1136/jmg.11.3.312]
</p>
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<li>
<p class="mim-text-font">
Yamamoto, Y., Oguro, N., Miyao, M., Yanagisawa, M., Ohsawa, T.
<strong>Prometaphase chromosomes in the tricho-rhino-phalangeal syndrome type I.</strong>
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[PubMed: 2773997]
[Full Text: https://doi.org/10.1002/ajmg.1320320420]
</p>
</li>
<li>
<p class="mim-text-font">
Yamamoto, Y., Oguro, N., Miyao, M., Yanagisawa, M.
<strong>Tricho-rhino-phalangeal syndrome type I with severe mental retardation due to interstitial deletion of 8q23.3-24.13.</strong>
Am. J. Med. Genet. 32: 133-135, 1989.
[PubMed: 2784939]
[Full Text: https://doi.org/10.1002/ajmg.1320320128]
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Cassandra L. Kniffin - updated : 5/10/2016<br>Cassandra L. Kniffin - updated : 1/11/2011<br>Victor A. McKusick - updated : 1/23/2001<br>Victor A. McKusick - updated : 12/27/1999<br>Victor A. McKusick - updated : 5/16/1997
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