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Entry
- #268400 - ROTHMUND-THOMSON SYNDROME, TYPE 2; RTS2
- OMIM
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<span class="h4">#268400</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/268400"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS268400"> <strong>Phenotypic Series</strong> </a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#clinicalFeatures">Clinical Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#clinicalManagement">Clinical Management</a>
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<a href="#cytogenetics">Cytogenetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#molecularGenetics">Molecular Genetics</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=ROTHMUND-THOMSON SYNDROME, TYPE" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=18929&Typ=Pat" title="Rothmund-Thomson syndrome type 1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Rothmund-Thomson syndrome …&nbsp;</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=18930&Typ=Pat" title="Rothmund-Thomson syndrome type 2" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Rothmund-Thomson syndrome …&nbsp;</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=2785&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Rothmund-Thomson syndrome&nbsp;</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1237/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div id="mimOrphanetFold" class="collapse">
<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=221008" title="Rothmund-Thomson syndrome type 1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Rothmund-Thomson syndrome …</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=221016" title="Rothmund-Thomson syndrome type 2" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Rothmund-Thomson syndrome …</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2909" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Rothmund-Thomson syndrome</a></div>
</div>
<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/3299eced-27d2-478a-a706-4895d161e426/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
<span class="panel-title">
<span class="small">
<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>
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</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:2732" 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/268400" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
<div><a href="https://wormbase.org/resources/disease/DOID:2732" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
</div>
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</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
<span class="panel-title">
<span class="small">
<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Cell Lines</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://catalog.coriell.org/Search?q=OmimNum:268400" 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> 1003923009, 69093006<br />
<strong>ICD10CM:</strong> Q82.8<br />
<strong>ORPHA:</strong> 221008, 221016, 2909<br />
<strong>DO:</strong> 2732<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>
268400
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
ROTHMUND-THOMSON SYNDROME, TYPE 2; RTS2
</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">
ROTHMUND-THOMSON SYNDROME
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/650?start=-3&limit=10&highlight=650">
8q24.3
</a>
</span>
</td>
<td>
<span class="mim-font">
Rothmund-Thomson syndrome, type 2
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/268400"> 268400 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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">
RECQL4
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/603780"> 603780 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/268400" 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/PS268400" class="btn btn-info" role="button"> Phenotypic Series </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
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<span class="sr-only">Toggle Dropdown</span>
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&nbsp;
<div class="btn-group">
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
PheneGene Graphics <span class="caret"></span>
</button>
<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/268400" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/268400" 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 recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</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 />
</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">
- Frontal bossing <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/90145001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">90145001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221354&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221354</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002007</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=3ab8802347404fb5ebf087fa6440bb25" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Frontal_Bossing-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=3ab8802347404fb5ebf087fa6440bb25&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Prognathism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/72855002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">72855002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/109504005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">109504005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22810007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22810007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M26.213" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M26.213</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.23" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.23</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0399526&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0399526</a>, <a href="https://bioportal.bioontology.org/search?q=C0033324&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0033324</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000303" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000303</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000303" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000303</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=2aaef6d7371d3478c5adcef40ea1e36f" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Prognathism-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=2aaef6d7371d3478c5adcef40ea1e36f&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Eyes </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Juvenile zonular cataracts <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849324&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849324</a>]</span><br /> -
Microphthalmia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204108000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204108000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/61142002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">61142002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q11.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q11.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/743.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/743.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/743.11" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.11</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026010&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026010</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000568" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000568</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000568" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000568</a>]</span><br /> -
Microcornea <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26098002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26098002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q13.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q13.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266544&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266544</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000482" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000482</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000482" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000482</a>]</span><br /> -
Strabismus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22066006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22066006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.40</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038379&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038379</a>, <a href="https://bioportal.bioontology.org/search?q=C2020541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2020541</a>, <a href="https://bioportal.bioontology.org/search?q=C1423541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1423541</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000486" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000486</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000486" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000486</a>]</span><br /> -
Glaucoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/23986001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">23986001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H40-H42" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H40-H42</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H40</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H40.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H40.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/365" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">365</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/365.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">365.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0017601&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0017601</a>, <a href="https://bioportal.bioontology.org/search?q=C0997768&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0997768</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000501" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000501</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000501" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000501</a>]</span><br /> -
Mesodermal iris dysgenesis (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204154009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204154009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3495489&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3495489</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">
- Small, saddle nose <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849325&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849325</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">
- Microdontia <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=C3891292&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3891292</a>, <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> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=e20d406d085f08e5a5f007032d800b18" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Microdontia-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=e20d406d085f08e5a5f007032d800b18&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 /> -
Delayed 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 /> -
Supernumerary teeth <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8666004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8666004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/367534004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">367534004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/196273001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">196273001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K00.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K00.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/520.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">520.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0040457&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0040457</a>, <a href="https://bioportal.bioontology.org/search?q=C5441989&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5441989</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011069" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011069</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0011067" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011067</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011069" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011069</a>]</span><br /> -
Missing teeth <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/234951001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">234951001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/37320007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">37320007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/25540007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">25540007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26624006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26624006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/234948008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">234948008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K00.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K00.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/520.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">520.0</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/525.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">525.10</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0399352&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0399352</a>, <a href="https://bioportal.bioontology.org/search?q=C0080233&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0080233</a>, <a href="https://bioportal.bioontology.org/search?q=C4724410&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4724410</a>, <a href="https://bioportal.bioontology.org/search?q=C0457756&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0457756</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006349" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006349</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000674" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000674</a>]</span><br /> -
Multiple crown malformations <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849326&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849326</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> ABDOMEN </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Pancreas </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Annular pancreas <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/40315008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">40315008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q45.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q45.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0149955&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0149955</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001734" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001734</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001734" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001734</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Gastrointestinal </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Anteriorly placed anus <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1838705&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1838705</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001545" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001545</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001545" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001545</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GENITOURINARY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Internal Genitalia (Male) </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Cryptorchidism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204878001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204878001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q53.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q53.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/752.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">752.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0010417&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0010417</a>, <a href="https://bioportal.bioontology.org/search?q=C5441920&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5441920</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000028" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000028</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000028" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000028</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKELETAL </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Osteoporosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/64859006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">64859006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Z82.62" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Z82.62</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M81.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M81.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/733.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">733.0</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/V17.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">V17.81</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/733.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">733.00</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2911643&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2911643</a>, <a href="https://bioportal.bioontology.org/search?q=C0029456&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0029456</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000939" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000939</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000939" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000939</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">
- Kyphoscoliosis (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405771009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405771009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405772002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405772002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405773007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405773007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0600033&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0600033</a>, <a href="https://bioportal.bioontology.org/search?q=C0575158&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0575158</a>, <a href="https://bioportal.bioontology.org/search?q=C0345392&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0345392</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002751" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002751</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0008453" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008453</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002751" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002751</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">
- Congenital hip dislocation (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/52781008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">52781008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48334007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48334007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q65.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q65.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/754.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551649&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551649</a>, <a href="https://bioportal.bioontology.org/search?q=C0019555&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019555</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001374" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001374</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001385" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001385</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001374" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001374</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Limbs </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Forearm reduction defects <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849327&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849327</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006368" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006368</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006368" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006368</a>]</span><br /> -
Absence of patella <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/6688006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">6688006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/309244002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">309244002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q74.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q74.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0586734&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0586734</a>, <a href="https://bioportal.bioontology.org/search?q=C0265667&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265667</a>]</span><br /> -
Hypermobile joints (rare) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1866237&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1866237</a>]</span><br /> -
Restricted range of movement in some joints (rare) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3151614&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3151614</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">
- Hypoplastic thumbs <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253936008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253936008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0431890&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0431890</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009778" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009778</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009778" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009778</a>]</span><br /> -
Small hands <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/299032009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">299032009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0575802&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0575802</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0200055" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0200055</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0200055" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0200055</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">
- Small feet <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/299461003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">299461003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848673&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848673</a>, <a href="https://bioportal.bioontology.org/search?q=C0576224&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0576224</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001773" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001773</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001773" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001773</a>]</span><br /> -
Club feet <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/397932003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">397932003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1156475005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1156475005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.89" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.89</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/754.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009081&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009081</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001762" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001762</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001762" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001762</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKIN, NAILS, & HAIR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Skin </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Erythematous skin lesions in infancy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849328&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849328</a>]</span><br /> -
Poikiloderma (atrophic plaques with telangiectasia) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849329&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849329</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/402685001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">402685001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/70114006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">70114006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001029" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001029</a>]</span><br /> -
Telangiectasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/247479008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">247479008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/112641009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">112641009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0039446&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039446</a>, <a href="https://bioportal.bioontology.org/search?q=C5848131&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5848131</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001009</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0034697" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034697</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001009</a>]</span><br /> -
Skin atrophy <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/400190005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">400190005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L90</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/L90.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L90.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151514&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151514</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004334" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004334</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004334" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004334</a>]</span><br /> -
Sun sensitivity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/90128006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">90128006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349506&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349506</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000992" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000992</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000992" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000992</a>]</span><br /> -
Shallow indolent cutaneous ulcers (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3151615&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3151615</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Nails </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Atrophic nails <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849330&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849330</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 hair <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1162675003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1162675003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5551005&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5551005</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> <span class="mim-feature-ids hidden">[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 /> -
Alopecia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/278040002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">278040002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/56317004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">56317004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L65.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L65.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/704.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">704.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/704.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">704.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0002170&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0002170</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001596" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001596</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0002293" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002293</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001596" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001596</a>]</span><br /> -
Premature graying of hair <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/387833009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">387833009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L67.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L67.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0263498&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0263498</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002216" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002216</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002216" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002216</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> NEUROLOGIC </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Central Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Mental retardation in 5-13% <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849323&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849323</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> ENDOCRINE FEATURES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Hypogonadism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48130008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48130008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020619&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020619</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000135" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000135</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000135" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000135</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> NEOPLASIA </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Basal cell carcinoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/254701007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">254701007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1338007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1338007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1547219&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1547219</a>, <a href="https://bioportal.bioontology.org/search?q=C4721806&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4721806</a>, <a href="https://bioportal.bioontology.org/search?q=C0007117&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007117</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002671" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002671</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002671" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002671</a>]</span><br /> -
Squamous cell carcinoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1162767002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1162767002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/402815007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">402815007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0007137&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0007137</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002860" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002860</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002860" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002860</a>]</span><br /> -
Osteogenic sarcoma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1163405004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1163405004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/189878003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">189878003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0029463&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0029463</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002669" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002669</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002669" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002669</a>]</span><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 Req-like DNA helicase type 4 gene (RECQL4, <a href="/entry/603780#0001">603780.0001</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>
Rothmund-Thomson syndrome
- <a href="/phenotypicSeries/PS268400">PS268400</a>
- 4 Entries
</h5>
</div>
</div>
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
<table class="table table-bordered table-condensed table-hover mim-table-padding">
<thead>
<tr>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Location</strong>
</th>
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
<strong>Phenotype</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Inheritance</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />mapping key</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Phenotype<br />MIM number</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus</strong>
</th>
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
<strong>Gene/Locus<br />MIM number</strong>
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/232?start=-3&limit=10&highlight=232"> 2p21 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615789"> Rothmund-Thomson syndrome, type 3 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/615789"> 615789 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604594"> CRIPT </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/604594"> 604594 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/2/561?start=-3&limit=10&highlight=561"> 2q13 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618625"> Rothmund-Thomson syndrome, type 1 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/618625"> 618625 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608473"> ANAPC1 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/608473"> 608473 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/650?start=-3&limit=10&highlight=650"> 8q24.3 </a>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/268400"> Rothmund-Thomson syndrome, type 2 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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>
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<a href="/entry/603780"> RECQL4 </a>
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<a href="/entry/603780"> 603780 </a>
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<a href="/geneMap/10/244?start=-3&limit=10&highlight=244"> 10q21.3 </a>
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<a href="/entry/620819"> Rothmund-Thomson syndrome, type 4 </a>
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<a href="/entry/620819"> 620819 </a>
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<a href="/entry/601810"> DNA2 </a>
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<a href="/entry/601810"> 601810 </a>
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<p>A number sign (#) is used with this entry because of evidence that Rothmund-Thomson syndrome type 2 (RTS2) is caused by homozygous or compound heterozygous mutation in the DNA helicase gene RECQL4 (<a href="/entry/603780">603780</a>) on chromosome 8q24.</p>
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<p>Rothmund-Thomson syndrome type 2 (RTS2) is an autosomal recessive disorder characterized by poikiloderma, congenital bone defects, and an increased risk of osteosarcoma in childhood and skin cancer later in life. The skeletal abnormalities may be overt (frontal bossing, saddle nose, and congenital radial ray defects) and/or subtle (visible only by radiographic analysis) (summary by <a href="#14" class="mim-tip-reference" title="Larizza, L., Roversi, G., Volpi, L. &lt;strong&gt;Rothmund-Thomson syndrome.&lt;/strong&gt; Orphanet J. Rare Dis. 5: 2, 2010. Note: Electronic Article.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20113479/&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;20113479&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=20113479[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/10.1186/1750-1172-5-2&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="20113479">Larizza et al., 2010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20113479" 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>Genetic Heterogeneity of Rothmund-Thomson Syndrome</em></strong></p><p>
Rothmund-Thomson syndrome type 1 (RTS1; <a href="/entry/618625">618625</a>) is caused by mutation in the ANAPC1 gene (<a href="/entry/608473">608473</a>) on chromosome 2q13.</p><p>Rothmund-Thomson syndrome type 3 (RTS3; <a href="/entry/615789">615789</a>) is caused by mutation in the CRIPT gene (<a href="/entry/604594">604594</a>) on chromosome 2p21.</p><p>Rothmund-Thomson syndrome type 4 (RTS4; <a href="/entry/620819">620819</a>) is caused by mutation in the DNA2 gene (<a href="/entry/601810">601810</a>) on chromosome 10q21.</p>
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<p>On the basis of their analysis of the clinical and molecular spectra of RTS, <a href="#31" class="mim-tip-reference" title="Wang, L. L., Gannavarapu, A., Kozinetz, C. A., Levy, M. L., Lewis, R. A., Chintagumpala, M. M., Ruiz-Maldanado, R., Contreras-Ruiz, J., Cunniff, C., Erickson, R. P., Lev, D., Rogers, M., Zackai, E. H., Plon, S. E. &lt;strong&gt;Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome.&lt;/strong&gt; J. Nat. Cancer Inst. 95: 669-674, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12734318/&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;12734318&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/jnci/95.9.669&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12734318">Wang et al. (2003)</a> suggested that there may be at least 2 forms of the disorder: a form as originally described by <a href="#22" class="mim-tip-reference" title="Rothmund, A. &lt;strong&gt;Ueber Cataracte in Verbindung mit einer eigenthuemlichen Hautdegeneration.&lt;/strong&gt; Albrecht von Graefes Arch. Klin. Exp. Ophthal. 14: 159-182, 1868."None>Rothmund (1868)</a>, associated with the characteristic poikiloderma but not with osteosarcoma, which they designated 'type 1;' and a form characterized by poikiloderma with an increased risk of osteosarcoma and deleterious mutations in the RECQL4 gene (<a href="/entry/603780">603780</a>), which they designated 'type 2.' <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12734318" 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="#22" class="mim-tip-reference" title="Rothmund, A. &lt;strong&gt;Ueber Cataracte in Verbindung mit einer eigenthuemlichen Hautdegeneration.&lt;/strong&gt; Albrecht von Graefes Arch. Klin. Exp. Ophthal. 14: 159-182, 1868."None>Rothmund (1868)</a> described 2 related consanguineous families in the small Walser valley in Austria in which 4 girls and 1 boy had lenticular opacities with skin disease. According to <a href="#30" class="mim-tip-reference" title="Waardenburg, P. J., Franceschetti, A., Klein, D. &lt;strong&gt;Genetics and Ophthalmology. Vol. 1&lt;/strong&gt; Springfield, Ill.: Charles C Thomas (pub.) 1961. Pp. 895-897."None>Waardenburg et al. (1961)</a>, this family was further investigated by Siemens. <a href="#30" class="mim-tip-reference" title="Waardenburg, P. J., Franceschetti, A., Klein, D. &lt;strong&gt;Genetics and Ophthalmology. Vol. 1&lt;/strong&gt; Springfield, Ill.: Charles C Thomas (pub.) 1961. Pp. 895-897."None>Waardenburg et al. (1961)</a> described the disorder as a hereditary dermatosis characterized by atrophy, pigmentation, and telangiectasia and frequently accompanied by juvenile cataract, saddle nose, congenital bone defects, disturbances of hair growth, and hypogonadism. Prognosis for survival is fairly good. In the disorder described by <a href="#29" class="mim-tip-reference" title="Thomson, M. S. &lt;strong&gt;Poikiloderma congenitale.&lt;/strong&gt; Brit. J. Derm. 48: 221-234, 1936."None>Thomson (1936)</a>, saddle nose was not present and cataract did not occur. An excellent color illustration was provided by <a href="#29" class="mim-tip-reference" title="Thomson, M. S. &lt;strong&gt;Poikiloderma congenitale.&lt;/strong&gt; Brit. J. Derm. 48: 221-234, 1936."None>Thomson (1936)</a>.</p><p><a href="#9" class="mim-tip-reference" title="Greaves, M. W., Inman, P. M. &lt;strong&gt;Cutaneous changes in the Morquio syndrome.&lt;/strong&gt; Brit. J. Derm. 81: 29-36, 1969.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4237090/&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;4237090&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1365-2133.1969.tb15916.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="4237090">Greaves and Inman (1969)</a> described a brother and sister, born of healthy unrelated parents, as having Morquio syndrome (<a href="/entry/253000">253000</a>, <a href="/entry/253010">253010</a>) with previously unrecognized cutaneous manifestations. However, specific enzyme assays later excluded this diagnosis. <a href="#25" class="mim-tip-reference" title="Spellacy, E., Gibbs, D. A., Watts, R. W. E. &lt;strong&gt;A newly recognized syndrome of connective tissue dysplasia in siblings (previously described as a variant of Morquio disease).&lt;/strong&gt; Quart. J. Med. 50: 377-415, 1981.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6805033/&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;6805033&lt;/a&gt;]" pmid="6805033">Spellacy et al. (1981)</a> reported extensive investigations which appeared to delineate the condition as a 'new' disorder. In addition to having severe skeletal dysplasia, the sibs had cutaneous atrophy with striking telangiectases and shallow indolent cutaneous ulcers, mesodermal dysgenesis of the iris, and joint abnormalities. The 15-year-old brother had severe kyphoscoliosis and hypermobility of some joints, with a restricted range of motion in other joints. His 17-year-old sister, who had bilateral congenitally dislocated hips, was less severely affected. The telangiectasia in both patients was generalized and associated with sensitivity to the sun. The odontoid process was normal and there was no corneal clouding. <a href="#19" class="mim-tip-reference" title="Moss, C. &lt;strong&gt;Rothmund-Thomson syndrome: a report of two patients and a review of the literature.&lt;/strong&gt; Brit. J. Derm. 122: 821-829, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2196075/&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;2196075&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1365-2133.1990.tb06272.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="2196075">Moss (1990)</a> reviewed the 2 patients when they were aged 25 and 27 years and concluded it was 'now clear that their disorder is the Rothmund-Thomson syndrome.' At 25 years of age, the brother was 97 cm tall, and photographs demonstrated saddle-nose. The telangiectasia on the face and extensor surfaces of the limbs, most marked on the hands and with wrinkling of the affected skin, was striking. In addition to the previously described changes in the iris, there were bilateral nuclear and posterior cortical lens opacities precluding a clear view of the fundus. The sister had iris atrophy but no cataracts. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4237090+6805033+2196075" 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="#26" class="mim-tip-reference" title="Starr, D. G., McClure, J. P., Connor, J. M. &lt;strong&gt;Non-dermatological complications and genetic aspects of the Rothmund-Thomson syndrome.&lt;/strong&gt; Clin. Genet. 27: 102-104, 1985.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3856492/&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;3856492&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1985.tb00192.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="3856492">Starr et al. (1985)</a> reported 2 cases and emphasized the less well-known nondermatologic features, namely, hypodontia, soft tissue contractures, proportionate short stature, hypogonadism, anemia, and osteogenic sarcoma. Birth weight in the 2 cases was 3 kg and 2.83 kg. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3856492" 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="#7" class="mim-tip-reference" title="Drouin, C. A., Mongrain, E., Sasseville, D., Bouchard, H.-L., Drouin, M. &lt;strong&gt;Rothmund-Thomson syndrome with osteosarcoma.&lt;/strong&gt; J. Am. Acad. Derm. 28: 301-305, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8436644/&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;8436644&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/0190-9622(93)70040-z&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="8436644">Drouin et al. (1993)</a> described osteosarcoma of the distal femoral metaphysis in an 11-year-old French Canadian boy with RTS. Several such cases had previously been reported. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8436644" 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="Pujol, L. A., Erickson, R. P., Heidenreich, R. A., Cunniff, C. &lt;strong&gt;Variable presentation of Rothmund-Thomson syndrome.&lt;/strong&gt; Am. J. Med. Genet. 95: 204-207, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11102924/&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;11102924&lt;/a&gt;]" pmid="11102924">Pujol et al. (2000)</a> reported 2 patients with variable presentations of Rothmund-Thomson syndrome. Initial presenting symptoms included growth deficiency and absent thumbs in 1 patient and osteogenic sarcoma and poikiloderma in the other. The growth-deficient patient was found to have growth hormone deficiency and a subnormal response to growth hormone supplementation. Neither malformations nor growth deficiency was present in the patient with osteogenic sarcoma and her only other manifestation of RTS was poikiloderma. <a href="#21" class="mim-tip-reference" title="Pujol, L. A., Erickson, R. P., Heidenreich, R. A., Cunniff, C. &lt;strong&gt;Variable presentation of Rothmund-Thomson syndrome.&lt;/strong&gt; Am. J. Med. Genet. 95: 204-207, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11102924/&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;11102924&lt;/a&gt;]" pmid="11102924">Pujol et al. (2000)</a> suggested that RTS should be considered in all patients with osteogenic sarcoma, particularly if associated with skin changes. The authors pointed out that <a href="#15" class="mim-tip-reference" title="Lindor, N. M., Devries, E. M. G., Michels, V. V., Schad, C. R., Jalal, S. M., Donovan, K. M., Smithson, W. A., Kvols, L. K., Thibodeau, S. N., Dewald, G. W. &lt;strong&gt;Rothmund-Thomson syndrome in siblings: evidence for acquired in vivo mosaicism.&lt;/strong&gt; Clin. Genet. 49: 124-129, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8737976/&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;8737976&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1996.tb03270.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="8737976">Lindor et al. (1996)</a> had reported a brother and sister of Mexican descent with marked short stature, poikiloderma, absent or hypoplastic thumbs, osteogenic sarcoma, and no cataracts. They stated that these were the sibs in whom <a href="#12" class="mim-tip-reference" title="Kitao, S., Shimamoto, A., Goto, M., Miller, R. W., Smithson, W. A., Lindor, N. M., Furuichi, Y. &lt;strong&gt;Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome.&lt;/strong&gt; Nature Genet. 22: 82-84, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10319867/&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;10319867&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/8788&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="10319867">Kitao et al. (1999)</a> had found mutations in the RECQL4 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10319867+8737976+11102924" 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="#32" class="mim-tip-reference" title="Wang, L. L., Levy, M. L., Lewis, R. A., Chintagumpala, M. M., Lev, D., Rogers, M., Plon, S. E. &lt;strong&gt;Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients.&lt;/strong&gt; Am. J. Med. Genet. 102: 11-17, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11471165/&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;11471165&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/1096-8628(20010722)102:1&lt;11::aid-ajmg1413&gt;3.0.co;2-a&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="11471165">Wang et al. (2001)</a> identified a cohort of 41 patients with RTS to better define the clinical profile, diagnostic criteria, and management of the disorder. Patients diagnosed with RTS were ascertained by referrals from dermatology, ophthalmology, genetics, and oncology or through direct contact with the patient's family. Medical information was obtained from interviews with physicians, patients, and their parents and a review of medical records. Age at ascertainment ranged from 9 months to 42 years. There were 28 males and 13 females. All subjects displayed a characteristic rash. Thirteen subjects had osteosarcoma (32%), 8 had radial defects (20%), 7 had gastrointestinal findings (17%), 2 had cataracts (6%), and 1 had skin cancer (2%). The gastrointestinal findings were feeding problems as infants, including chronic emesis or diarrhea, with some patients requiring tube feeding. One had documented duodenal stenosis, but the others had no clear explanation for the symptoms. Of the patients without osteosarcoma, 22 of 28 were less than 15 years old and thus remained at significant risk for this tumor. Compared with historical reports, this study showed a clinical profile of RTS that included a higher prevalence of osteosarcoma and fewer cataracts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11471165" 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 12 patients with RTS2 in whom <a href="#27" class="mim-tip-reference" title="Suter, A.-A., Itin, P., Heinimann, K., Ahmed, M., Ashraf, T., Fryssira, H., Kini, U., Lapunzina, P., Miny, P., Sommerlund, M., Suri, M., Vaeth, S., Vasudevan, P., Gallati, S. &lt;strong&gt;Rothmund-Thomson syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.&lt;/strong&gt; Molec. Genet. Genomic Med. 4: 359-366, 2016.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/27247962/&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;27247962&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/mgg3.209&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="27247962">Suter et al. (2016)</a> identified homozygous or compound heterozygous mutations in the RECQL4 gene, the most common features were poikiloderma or other skin lesions (100%), growth retardation (83%), and skeletal manifestations (75%). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27247962" 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="#11" class="mim-tip-reference" title="Hilhorst-Hofstee, Y., Shah, N., Atherton, D., Harper, J. I., Milla, P., Winter, R. M. &lt;strong&gt;Radial aplasia, poikiloderma and auto-immune enterocolitis--new syndrome or severe form of Rothmund-Thomson syndrome?&lt;/strong&gt; Clin. Dysmorph. 9: 79-85, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10826616/&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;10826616&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1097/00019605-200009020-00001&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="10826616">Hilhorst-Hofstee et al. (2000)</a> described a syndrome observed in 3 isolated patients, the features of which included bilateral radial aplasia, short stature, an inflammatory based 'elastic' pyloric stenosis, a panenteric inflammatory gut disorder that appears to be due to an autoimmune process, and poikiloderma. Other features in individual cases included cleft palate, micrognathia, anal atresia, patellar aplasia/hypoplasia, and sensorineural deafness. <a href="#11" class="mim-tip-reference" title="Hilhorst-Hofstee, Y., Shah, N., Atherton, D., Harper, J. I., Milla, P., Winter, R. M. &lt;strong&gt;Radial aplasia, poikiloderma and auto-immune enterocolitis--new syndrome or severe form of Rothmund-Thomson syndrome?&lt;/strong&gt; Clin. Dysmorph. 9: 79-85, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10826616/&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;10826616&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1097/00019605-200009020-00001&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="10826616">Hilhorst-Hofstee et al. (2000)</a> suggested that the combination may represent a severe form of Rothmund-Thomson syndrome or possibly a previously unrecognized condition. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10826616" 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>Rothmund-Thomson syndrome type 2 is inherited as an autosomal recessive disorder (<a href="#12" class="mim-tip-reference" title="Kitao, S., Shimamoto, A., Goto, M., Miller, R. W., Smithson, W. A., Lindor, N. M., Furuichi, Y. &lt;strong&gt;Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome.&lt;/strong&gt; Nature Genet. 22: 82-84, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10319867/&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;10319867&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/8788&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="10319867">Kitao et al., 1999</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10319867" 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="#32" class="mim-tip-reference" title="Wang, L. L., Levy, M. L., Lewis, R. A., Chintagumpala, M. M., Lev, D., Rogers, M., Plon, S. E. &lt;strong&gt;Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients.&lt;/strong&gt; Am. J. Med. Genet. 102: 11-17, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11471165/&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;11471165&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/1096-8628(20010722)102:1&lt;11::aid-ajmg1413&gt;3.0.co;2-a&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="11471165">Wang et al. (2001)</a> recommended baseline skeletal radiographs of the long bones by age 5 years for all patients with RTS, since patients often have underlying skeletal dysplasias and subsequent films based on clinical suspicion of osteosarcoma can be interpreted more easily in comparison to baseline findings. They stated that it is unclear whether RTS patients are more sensitive to the effects of chemotherapy and radiation. There had been no reports of increased toxicity to treatment comparable to that experienced by ataxia-telangiectasia (<a href="/entry/208900">208900</a>) patients treated for cancer. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11471165" 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="#33" class="mim-tip-reference" title="Ying, K. L., Oizumi, J., Curry, C. J. R. &lt;strong&gt;Rothmund-Thomson syndrome associated with trisomy 8 mosaicism.&lt;/strong&gt; J. Med. Genet. 27: 258-260, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2325107/&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;2325107&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.27.4.258&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="2325107">Ying et al. (1990)</a> described trisomy 8 mosaicism in association with Rothmund-Thomson syndrome. <a href="#6" class="mim-tip-reference" title="Der Kaloustian, V. M., McGill, J. J., Vekemans, M., Kopelman, H. R. &lt;strong&gt;Clonal lines of aneuploid cells in Rothmund-Thomson syndrome.&lt;/strong&gt; Am. J. Med. Genet. 37: 336-339, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2260560/&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;2260560&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320370308&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="2260560">Der Kaloustian et al. (1990)</a> found mosaic trisomy 8 and mosaic supernumerary i(2q) in fibroblasts from normal skin; lymphocytes, however, had a normal karyotype. <a href="#20" class="mim-tip-reference" title="Orstavik, K. H., McFadden, N., Hagelsteen, J., Ormerod, E., van der Hagen, C. B. &lt;strong&gt;Instability of lymphocyte chromosomes in a girl with Rothmund-Thomson syndrome.&lt;/strong&gt; J. Med. Genet. 31: 570-572, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7966195/&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;7966195&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.31.7.570&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="7966195">Orstavik et al. (1994)</a> likewise found instability of lymphocyte chromosomes in a young girl who had severe skeletal abnormalities of the upper limbs with absence of both radii, short dysmorphic ulnae, a rudimentary right thumb, and aplasia of the left thumb. She also had anal atresia with a rectovaginal fistula. Poikiloderma developed on the face and extensor surfaces of the limbs beginning at the age of 3 months. Mental development was normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2260560+7966195+2325107" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#15" class="mim-tip-reference" title="Lindor, N. M., Devries, E. M. G., Michels, V. V., Schad, C. R., Jalal, S. M., Donovan, K. M., Smithson, W. A., Kvols, L. K., Thibodeau, S. N., Dewald, G. W. &lt;strong&gt;Rothmund-Thomson syndrome in siblings: evidence for acquired in vivo mosaicism.&lt;/strong&gt; Clin. Genet. 49: 124-129, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8737976/&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;8737976&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1996.tb03270.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="8737976">Lindor et al. (1996)</a> reported a brother and sister with typical clinical manifestations of RTS and tibial sarcoma. Three cell lines [46,XY; 47,XY,+8; 47,XY,+i(8q)] were found in lymphocyte cultures of the brother and 2 cell lines [46,XX; 47,XX,+i(8q)] were detected in the sister. FISH studies with a probe specific for the chromosome 8 centromere showed 3 chromosome 8 signals in 4 to 16% of uncultivated lymphocytes and buccal cells of these patients, suggesting the in vivo presence of abnormal cell lines. RTS may be associated with clonal rearrangements causing acquired somatic mosaicism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8737976" 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="#18" class="mim-tip-reference" title="Martins, D. J., Di Lazzaro Filho, R., Bertola, D. R., Hoch, N. C. &lt;strong&gt;Rothmund-Thomson syndrome, a disorder far from solved.&lt;/strong&gt; Front Aging 4: 1296409, 2023.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/38021400/&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;38021400&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.3389/fragi.2023.1296409&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="38021400">Martins et al. (2023)</a> reviewed Rothmund-Thomson syndrome and the 4 RTS-associated genes. They stated that because of the small number patients, no clear genotype-phenotype correlations could be drawn. However, features common to all RTS patients included poikiloderma, short stature, and sparse hair/eyebrows/eyelashes. In contrast, radial ray defects were most common in patients with RECQL4-associated RTS (RTS2), and cataracts were almost exclusively reported in patients with mutation in the ANAPC1 (<a href="/entry/608473">608473</a>) or DNA2 (<a href="/entry/601810">601810</a>) genes, with juvenile onset in the former and congenital onset in the latter. ANAPC1- and DNA2-associated RTS patients (RTS1 (<a href="/entry/618625">618625</a>) and RTS4 (<a href="/entry/620819">620819</a>), respectively) also shared a high prevalence of growth hormone deficiency. Neurologic involvement, including developmental delay, intellectual disability, and/or seizures, was most common in CRIPT (<a href="/entry/604594">604594</a>)-associated RTS (RTS3; <a href="/entry/615789">615789</a>), and microcephaly was most frequently seen in both CRIPT- and DNA2-mutated patients. Osteosarcoma was reported only in RECQL4-associated RTS, but the authors noted that the patients in the other groups were still young and that long-term follow-up would be required to determine whether the increased cancer risk was restricted to the RECQL4 group. <a href="#18" class="mim-tip-reference" title="Martins, D. J., Di Lazzaro Filho, R., Bertola, D. R., Hoch, N. C. &lt;strong&gt;Rothmund-Thomson syndrome, a disorder far from solved.&lt;/strong&gt; Front Aging 4: 1296409, 2023.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/38021400/&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;38021400&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.3389/fragi.2023.1296409&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="38021400">Martins et al. (2023)</a> stated that the RTS-associated genes have no obvious shared function; although their involvement in DNA replication, DNA repair, and/or cell-cycle progression points suggested a shared defect in at least 1 of those processes, the precise nature of the putative shared pathway remained to be clarified. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=38021400" 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>In a Mexican brother and sister with Rothmund-Thomson syndrome and in an isolated case, <a href="#12" class="mim-tip-reference" title="Kitao, S., Shimamoto, A., Goto, M., Miller, R. W., Smithson, W. A., Lindor, N. M., Furuichi, Y. &lt;strong&gt;Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome.&lt;/strong&gt; Nature Genet. 22: 82-84, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10319867/&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;10319867&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/8788&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="10319867">Kitao et al. (1999)</a> identified compound heterozygous mutations in the helicase gene RECQL4 (<a href="/entry/603780#0001">603780.0001</a>-<a href="/entry/603780#0004">603780.0004</a>). In 4 other patients, no mutation was found, suggesting genetic heterogeneity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10319867" 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 2 brothers with RTS, <a href="#16" class="mim-tip-reference" title="Lindor, N. M., Furuichi, Y., Kitao, S., Shimamoto, A., Arndt, C., Jalal, S. &lt;strong&gt;Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome.&lt;/strong&gt; Am. J. Med. Genet. 90: 223-228, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10678659/&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;10678659&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1096-8628(20000131)90:3&lt;223::aid-ajmg7&gt;3.0.co;2-z&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="10678659">Lindor et al. (2000)</a> identified compound heterozygosity for mutations in the RECQL4 gene (<a href="/entry/603780#0005">603780.0005</a> and <a href="/entry/603780#0006">603780.0006</a>). One brother died at age 9 years from osteosarcoma of the right calcaneus and right iliac wing, whereas the other brother was diagnosed at age 21 years with osteoblastic osteosarcoma of the distal radius. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10678659" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 19-year-old Caucasian male patient with RTS, <a href="#1" class="mim-tip-reference" title="Beghini, A., Castorina, P., Roversi, G., Modiano, P., Larizza, L. &lt;strong&gt;RNA processing defects of the helicase gene RECQL4 in a compound heterozygous Rothmund-Thomson patient.&lt;/strong&gt; Am. J. Med. Genet. 120A: 395-399, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12838562/&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;12838562&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.20154&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="12838562">Beghini et al. (2003)</a> identified compound heterozygosity for mutations in the RECQL4 gene (<a href="/entry/603780#0005">603780.0005</a> and <a href="/entry/603780#0008">603780.0008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12838562" 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="#31" class="mim-tip-reference" title="Wang, L. L., Gannavarapu, A., Kozinetz, C. A., Levy, M. L., Lewis, R. A., Chintagumpala, M. M., Ruiz-Maldanado, R., Contreras-Ruiz, J., Cunniff, C., Erickson, R. P., Lev, D., Rogers, M., Zackai, E. H., Plon, S. E. &lt;strong&gt;Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome.&lt;/strong&gt; J. Nat. Cancer Inst. 95: 669-674, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12734318/&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;12734318&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/jnci/95.9.669&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12734318">Wang et al. (2003)</a> analyzed the RECQL4 gene in 33 RTS patients and identified 23 patients, including all 11 patients with osteosarcoma, who carried at least 1 of 19 truncating mutations (see, e.g., <a href="/entry/603780#0002">603780.0002</a>). The authors concluded that RECQL4 loss-of-function mutations occur in approximately two-thirds of RTS patients and are associated with the risk of osteosarcoma. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12734318" 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="#24" class="mim-tip-reference" title="Simon, T., Kohlhase, J., Wilhelm, C., Kochanek, M., De Carolis, B., Berthold, F. &lt;strong&gt;Multiple malignant diseases in a patient with Rothmund-Thomson syndrome with RECQL4 mutations: case report and literature review.&lt;/strong&gt; Am. J. Med. Genet. 152A: 1575-1579, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20503338/&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;20503338&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.33427&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="20503338">Simon et al. (2010)</a> reported a 21-year-old male with RTS who was compound heterozygous for mutations in the RECQL4 gene (<a href="/entry/603780#0015">603780.0015</a> and <a href="/entry/603780#0016">603780.0016</a>) and who developed 4 malignant diseases: large-cell anaplastic T-cell lymphoma with histologic features of the syncytial variant of nodular sclerosing Hodgkin lymphoma at age 9.3 years; diffuse large B-cell lymphoma, centroblastic variant, at age 14.3 years; osteosarcoma at age 14.6; and acute leukemia at age 21.6 years. Despite achieving remission with the first 3 malignancies, including spontaneous remission of the diffuse large cell lymphoma, the patient died from leukemia progression at age 21.9 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20503338" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By screening DNA samples from 43 index patients with RTS for variants in the 21 exons of the RECQL4 gene by PCR, SSCP-PAGE analysis, and/or Sanger sequencing, <a href="#27" class="mim-tip-reference" title="Suter, A.-A., Itin, P., Heinimann, K., Ahmed, M., Ashraf, T., Fryssira, H., Kini, U., Lapunzina, P., Miny, P., Sommerlund, M., Suri, M., Vaeth, S., Vasudevan, P., Gallati, S. &lt;strong&gt;Rothmund-Thomson syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.&lt;/strong&gt; Molec. Genet. Genomic Med. 4: 359-366, 2016.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/27247962/&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;27247962&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/mgg3.209&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="27247962">Suter et al. (2016)</a> identified 23 different RECQL4 mutations, 10 of which were novel, in 18 patients. The novel mutations included 5 frameshift, 3 in-frame, 1 nonsense, and 1 missense. Twelve patients had homozygous or compound heterozygous mutations; in 5 patients, only 1 mutation was identified, and in 1 patient 3 mutations were identified. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27247962" 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>Heterogeneity</em></strong></p><p>
<a href="#31" class="mim-tip-reference" title="Wang, L. L., Gannavarapu, A., Kozinetz, C. A., Levy, M. L., Lewis, R. A., Chintagumpala, M. M., Ruiz-Maldanado, R., Contreras-Ruiz, J., Cunniff, C., Erickson, R. P., Lev, D., Rogers, M., Zackai, E. H., Plon, S. E. &lt;strong&gt;Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome.&lt;/strong&gt; J. Nat. Cancer Inst. 95: 669-674, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12734318/&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;12734318&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/jnci/95.9.669&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="12734318">Wang et al. (2003)</a> analyzed the RECQL4 gene in 33 RTS patients and found an absence of RECQL4 mutations in 10 patients. Analysis of a family with an affected sib pair excluded RECQL4 as a recessive locus for RTS in the family, arguing strongly for genetic heterogeneity in RTS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12734318" 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="#24" class="mim-tip-reference" title="Simon, T., Kohlhase, J., Wilhelm, C., Kochanek, M., De Carolis, B., Berthold, F. &lt;strong&gt;Multiple malignant diseases in a patient with Rothmund-Thomson syndrome with RECQL4 mutations: case report and literature review.&lt;/strong&gt; Am. J. Med. Genet. 152A: 1575-1579, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20503338/&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;20503338&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.33427&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="20503338">Simon et al. (2010)</a> stated that only 40 to 66% of patients with RTS have been found to have mutation in the RECQL4 gene, indicating genetic heterogeneity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20503338" 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="#17" class="mim-tip-reference" title="Mann, M. B., Hodges, C. A., Barnes, E., Vogel, H., Hassold, T. J., Luo, G. &lt;strong&gt;Defective sister-chromatid cohesion, aneuploidy and cancer predisposition in a mouse model of type II Rothmund-Thomson syndrome.&lt;/strong&gt; Hum. Molec. Genet. 14: 813-825, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15703196/&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;15703196&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/ddi075&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="15703196">Mann et al. (2005)</a> created a viable Recql4-mutant mouse model. Mutant mice exhibited a distinctive skin abnormality, birth defects of the skeletal system, genomic instability, and increased cancer susceptibility in a sensitized genetic background. Cells from Recql4-mutant mice had high frequencies of premature centromere separation and aneuploidy. The authors proposed a role for Recql4 in sister-chromatid cohesion, and suggested that chromosomal instability may be the underlying cause of cancer predisposition and birth defects in these mutant mice. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15703196" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Blinstrub1964" class="mim-tip-reference" title="Blinstrub, R. S., Lehman, R., Steinberg, T. H. &lt;strong&gt;Poikiloderma congenitale: report of two cases.&lt;/strong&gt; Arch. Derm. 89: 659-664, 1964.">Blinstrub et al. (1964)</a>; <a href="#Block1929" class="mim-tip-reference" title="Block, B., Stauffer, H. &lt;strong&gt;Skin diseases of endocrine system (dyshormonal dermatoses): poikiloderma-like changes in connection with under development of the sexual glands and dystrophia adiposogenitalis.&lt;/strong&gt; Arch. Derm. Syph. 19: 22-34, 1929.">Block and Stauffer (1929)</a>; <a href="#Cole1945" class="mim-tip-reference" title="Cole, H. N., Giffen, H. K., Simmons, J. T., Stroud, G. M., III. &lt;strong&gt;Congenital cataracts in sisters with congenital ectodermal dysplasia.&lt;/strong&gt; JAMA 129: 723-728, 1945.">Cole et al.
(1945)</a>; <a href="#Dechenne1983" class="mim-tip-reference" title="Dechenne, C., Chantraine, J. M., Davin, J. C. &lt;strong&gt;A Rothmund-Thomson case with hypertension.&lt;/strong&gt; Clin. Genet. 24: 266-272, 1983.">Dechenne et al. (1983)</a>; <a href="#Franceschetti1953" class="mim-tip-reference" title="Franceschetti, A. &lt;strong&gt;Les dysplasies ectodermiques et les syndromes hereditaires apparentes.&lt;/strong&gt; Dermatologica 106: 129-156, 1953.">Franceschetti (1953)</a>; <a href="#Hall1980" class="mim-tip-reference" title="Hall, J. C., Pagon, R. A., Wilson, K. M. &lt;strong&gt;Rothmund-Thomson syndrome with severe dwarfism.&lt;/strong&gt; Am. J. Dis. Child. 134: 165-169, 1980.">Hall et al.
(1980)</a>; <a href="#Kraus1970" class="mim-tip-reference" title="Kraus, B. S., Gottlieb, M. A., Meliton, H. R. &lt;strong&gt;The dentition in Rothmund&#x27;s syndrome.&lt;/strong&gt; J. Am. Dent. Assoc. 81: 895-915, 1970.">Kraus et al. (1970)</a>; <a href="#Sexton1954" class="mim-tip-reference" title="Sexton, G. B. &lt;strong&gt;Thomson&#x27;s syndrome (poikiloderma congenitale).&lt;/strong&gt; Canad. Med. Assoc. J. 70: 662-665, 1954.">Sexton (1954)</a>; <a href="#Taylor1957" class="mim-tip-reference" title="Taylor, W. B. &lt;strong&gt;Rothmund&#x27;s syndrome--Thomson&#x27;s syndrome.&lt;/strong&gt; Arch. Derm. 75: 236-244, 1957.">Taylor (1957)</a>
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Beghini, A., Castorina, P., Roversi, G., Modiano, P., Larizza, L.
<strong>RNA processing defects of the helicase gene RECQL4 in a compound heterozygous Rothmund-Thomson patient.</strong>
Am. J. Med. Genet. 120A: 395-399, 2003.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12838562/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12838562</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12838562" 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.20154" target="_blank">Full Text</a>]
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<a id="Blinstrub1964" class="mim-anchor"></a>
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Blinstrub, R. S., Lehman, R., Steinberg, T. H.
<strong>Poikiloderma congenitale: report of two cases.</strong>
Arch. Derm. 89: 659-664, 1964.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14122096/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14122096</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14122096" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1001/archderm.1964.01590290025004" target="_blank">Full Text</a>]
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Block, B., Stauffer, H.
<strong>Skin diseases of endocrine system (dyshormonal dermatoses): poikiloderma-like changes in connection with under development of the sexual glands and dystrophia adiposogenitalis.</strong>
Arch. Derm. Syph. 19: 22-34, 1929.
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Cole, H. N., Giffen, H. K., Simmons, J. T., Stroud, G. M., III.
<strong>Congenital cataracts in sisters with congenital ectodermal dysplasia.</strong>
JAMA 129: 723-728, 1945.
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<a id="Dechenne1983" class="mim-anchor"></a>
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Dechenne, C., Chantraine, J. M., Davin, J. C.
<strong>A Rothmund-Thomson case with hypertension.</strong>
Clin. Genet. 24: 266-272, 1983.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6641003/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6641003</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6641003" 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.1399-0004.1983.tb00081.x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="6" class="mim-anchor"></a>
<a id="Der Kaloustian1990" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Der Kaloustian, V. M., McGill, J. J., Vekemans, M., Kopelman, H. R.
<strong>Clonal lines of aneuploid cells in Rothmund-Thomson syndrome.</strong>
Am. J. Med. Genet. 37: 336-339, 1990.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2260560/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2260560</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2260560" 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.1320370308" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="7" class="mim-anchor"></a>
<a id="Drouin1993" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Drouin, C. A., Mongrain, E., Sasseville, D., Bouchard, H.-L., Drouin, M.
<strong>Rothmund-Thomson syndrome with osteosarcoma.</strong>
J. Am. Acad. Derm. 28: 301-305, 1993.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8436644/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8436644</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8436644" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0190-9622(93)70040-z" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="8" class="mim-anchor"></a>
<a id="Franceschetti1953" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Franceschetti, A.
<strong>Les dysplasies ectodermiques et les syndromes hereditaires apparentes.</strong>
Dermatologica 106: 129-156, 1953.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13094980/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13094980</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13094980" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="9" class="mim-anchor"></a>
<a id="Greaves1969" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Greaves, M. W., Inman, P. M.
<strong>Cutaneous changes in the Morquio syndrome.</strong>
Brit. J. Derm. 81: 29-36, 1969.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4237090/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4237090</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4237090" 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.1365-2133.1969.tb15916.x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="10" class="mim-anchor"></a>
<a id="Hall1980" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hall, J. C., Pagon, R. A., Wilson, K. M.
<strong>Rothmund-Thomson syndrome with severe dwarfism.</strong>
Am. J. Dis. Child. 134: 165-169, 1980.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7352442/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7352442</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7352442" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1001/archpedi.1980.02130140039013" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="11" class="mim-anchor"></a>
<a id="Hilhorst-Hofstee2000" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hilhorst-Hofstee, Y., Shah, N., Atherton, D., Harper, J. I., Milla, P., Winter, R. M.
<strong>Radial aplasia, poikiloderma and auto-immune enterocolitis--new syndrome or severe form of Rothmund-Thomson syndrome?</strong>
Clin. Dysmorph. 9: 79-85, 2000.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10826616/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10826616</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10826616" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1097/00019605-200009020-00001" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="12" class="mim-anchor"></a>
<a id="Kitao1999" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kitao, S., Shimamoto, A., Goto, M., Miller, R. W., Smithson, W. A., Lindor, N. M., Furuichi, Y.
<strong>Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome.</strong>
Nature Genet. 22: 82-84, 1999.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10319867/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10319867</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10319867" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/8788" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="13" class="mim-anchor"></a>
<a id="Kraus1970" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kraus, B. S., Gottlieb, M. A., Meliton, H. R.
<strong>The dentition in Rothmund's syndrome.</strong>
J. Am. Dent. Assoc. 81: 895-915, 1970.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5271915/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5271915</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5271915" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="14" class="mim-anchor"></a>
<a id="Larizza2010" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Larizza, L., Roversi, G., Volpi, L.
<strong>Rothmund-Thomson syndrome.</strong>
Orphanet J. Rare Dis. 5: 2, 2010. Note: Electronic Article.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20113479/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20113479</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20113479[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20113479" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1186/1750-1172-5-2" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="15" class="mim-anchor"></a>
<a id="Lindor1996" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Lindor, N. M., Devries, E. M. G., Michels, V. V., Schad, C. R., Jalal, S. M., Donovan, K. M., Smithson, W. A., Kvols, L. K., Thibodeau, S. N., Dewald, G. W.
<strong>Rothmund-Thomson syndrome in siblings: evidence for acquired in vivo mosaicism.</strong>
Clin. Genet. 49: 124-129, 1996.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8737976/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8737976</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8737976" 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.1399-0004.1996.tb03270.x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="16" class="mim-anchor"></a>
<a id="Lindor2000" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Lindor, N. M., Furuichi, Y., Kitao, S., Shimamoto, A., Arndt, C., Jalal, S.
<strong>Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome.</strong>
Am. J. Med. Genet. 90: 223-228, 2000.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10678659/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10678659</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10678659" 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/(sici)1096-8628(20000131)90:3&lt;223::aid-ajmg7&gt;3.0.co;2-z" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="17" class="mim-anchor"></a>
<a id="Mann2005" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Mann, M. B., Hodges, C. A., Barnes, E., Vogel, H., Hassold, T. J., Luo, G.
<strong>Defective sister-chromatid cohesion, aneuploidy and cancer predisposition in a mouse model of type II Rothmund-Thomson syndrome.</strong>
Hum. Molec. Genet. 14: 813-825, 2005.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15703196/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15703196</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15703196" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/hmg/ddi075" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="18" class="mim-anchor"></a>
<a id="Martins2023" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Martins, D. J., Di Lazzaro Filho, R., Bertola, D. R., Hoch, N. C.
<strong>Rothmund-Thomson syndrome, a disorder far from solved.</strong>
Front Aging 4: 1296409, 2023.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/38021400/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">38021400</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=38021400" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.3389/fragi.2023.1296409" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="19" class="mim-anchor"></a>
<a id="Moss1990" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Moss, C.
<strong>Rothmund-Thomson syndrome: a report of two patients and a review of the literature.</strong>
Brit. J. Derm. 122: 821-829, 1990.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2196075/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2196075</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2196075" 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.1365-2133.1990.tb06272.x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="20" class="mim-anchor"></a>
<a id="Orstavik1994" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Orstavik, K. H., McFadden, N., Hagelsteen, J., Ormerod, E., van der Hagen, C. B.
<strong>Instability of lymphocyte chromosomes in a girl with Rothmund-Thomson syndrome.</strong>
J. Med. Genet. 31: 570-572, 1994.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7966195/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7966195</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7966195" 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.31.7.570" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="21" class="mim-anchor"></a>
<a id="Pujol2000" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Pujol, L. A., Erickson, R. P., Heidenreich, R. A., Cunniff, C.
<strong>Variable presentation of Rothmund-Thomson syndrome.</strong>
Am. J. Med. Genet. 95: 204-207, 2000.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11102924/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11102924</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11102924" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="22" class="mim-anchor"></a>
<a id="Rothmund1868" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Rothmund, A.
<strong>Ueber Cataracte in Verbindung mit einer eigenthuemlichen Hautdegeneration.</strong>
Albrecht von Graefes Arch. Klin. Exp. Ophthal. 14: 159-182, 1868.
</p>
</div>
</li>
<li>
<a id="23" class="mim-anchor"></a>
<a id="Sexton1954" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Sexton, G. B.
<strong>Thomson's syndrome (poikiloderma congenitale).</strong>
Canad. Med. Assoc. J. 70: 662-665, 1954.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13160909/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13160909</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13160909" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="24" class="mim-anchor"></a>
<a id="Simon2010" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Simon, T., Kohlhase, J., Wilhelm, C., Kochanek, M., De Carolis, B., Berthold, F.
<strong>Multiple malignant diseases in a patient with Rothmund-Thomson syndrome with RECQL4 mutations: case report and literature review.</strong>
Am. J. Med. Genet. 152A: 1575-1579, 2010.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20503338/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20503338</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20503338" 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.33427" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="25" class="mim-anchor"></a>
<a id="Spellacy1981" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Spellacy, E., Gibbs, D. A., Watts, R. W. E.
<strong>A newly recognized syndrome of connective tissue dysplasia in siblings (previously described as a variant of Morquio disease).</strong>
Quart. J. Med. 50: 377-415, 1981.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6805033/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6805033</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6805033" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
</li>
<li>
<a id="26" class="mim-anchor"></a>
<a id="Starr1985" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Starr, D. G., McClure, J. P., Connor, J. M.
<strong>Non-dermatological complications and genetic aspects of the Rothmund-Thomson syndrome.</strong>
Clin. Genet. 27: 102-104, 1985.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3856492/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3856492</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3856492" 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.1399-0004.1985.tb00192.x" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="27" class="mim-anchor"></a>
<a id="Suter2016" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Suter, A.-A., Itin, P., Heinimann, K., Ahmed, M., Ashraf, T., Fryssira, H., Kini, U., Lapunzina, P., Miny, P., Sommerlund, M., Suri, M., Vaeth, S., Vasudevan, P., Gallati, S.
<strong>Rothmund-Thomson syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.</strong>
Molec. Genet. Genomic Med. 4: 359-366, 2016.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27247962/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27247962</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27247962" 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/mgg3.209" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="28" class="mim-anchor"></a>
<a id="Taylor1957" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Taylor, W. B.
<strong>Rothmund's syndrome--Thomson's syndrome.</strong>
Arch. Derm. 75: 236-244, 1957.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13393794/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13393794</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13393794" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1001/archderm.1957.01550140080013" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="29" class="mim-anchor"></a>
<a id="Thomson1936" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Thomson, M. S.
<strong>Poikiloderma congenitale.</strong>
Brit. J. Derm. 48: 221-234, 1936.
</p>
</div>
</li>
<li>
<a id="30" class="mim-anchor"></a>
<a id="Waardenburg1961" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Waardenburg, P. J., Franceschetti, A., Klein, D.
<strong>Genetics and Ophthalmology. Vol. 1</strong>
Springfield, Ill.: Charles C Thomas (pub.) 1961. Pp. 895-897.
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<a id="Wang2003" class="mim-anchor"></a>
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Wang, L. L., Gannavarapu, A., Kozinetz, C. A., Levy, M. L., Lewis, R. A., Chintagumpala, M. M., Ruiz-Maldanado, R., Contreras-Ruiz, J., Cunniff, C., Erickson, R. P., Lev, D., Rogers, M., Zackai, E. H., Plon, S. E.
<strong>Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome.</strong>
J. Nat. Cancer Inst. 95: 669-674, 2003.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12734318/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12734318</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12734318" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/jnci/95.9.669" target="_blank">Full Text</a>]
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<a id="Wang2001" class="mim-anchor"></a>
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Wang, L. L., Levy, M. L., Lewis, R. A., Chintagumpala, M. M., Lev, D., Rogers, M., Plon, S. E.
<strong>Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients.</strong>
Am. J. Med. Genet. 102: 11-17, 2001.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11471165/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11471165</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11471165" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/1096-8628(20010722)102:1&lt;11::aid-ajmg1413&gt;3.0.co;2-a" target="_blank">Full Text</a>]
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<a id="Ying1990" class="mim-anchor"></a>
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Ying, K. L., Oizumi, J., Curry, C. J. R.
<strong>Rothmund-Thomson syndrome associated with trisomy 8 mosaicism.</strong>
J. Med. Genet. 27: 258-260, 1990.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2325107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2325107</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2325107" 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.27.4.258" target="_blank">Full Text</a>]
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Marla J. F. O'Neill - updated : 05/07/2024
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Carol A. Bocchini - updated : 11/22/2021<br>Marla J. F. O'Neill - updated : 7/21/2010<br>Carol A. Bocchini - updated : 7/13/2010<br>George E. Tiller - updated : 4/25/2008<br>Victor A. McKusick - updated : 8/31/2001<br>Victor A. McKusick - updated : 11/10/2000<br>Ada Hamosh - updated : 7/10/2000<br>Victor A. McKusick - updated : 4/27/1999<br>Iosif W. Lurie - updated : 6/26/1996
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Victor A. McKusick : 6/4/1986
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alopez : 05/07/2024
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<span class="mim-font">
<strong>#</strong> 268400
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ROTHMUND-THOMSON SYNDROME, TYPE 2; RTS2
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<em>Alternative titles; symbols</em>
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ROTHMUND-THOMSON SYNDROME
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<strong>SNOMEDCT:</strong> 1003923009, 69093006; &nbsp;
<strong>ICD10CM:</strong> Q82.8; &nbsp;
<strong>ORPHA:</strong> 221008, 221016, 2909; &nbsp;
<strong>DO:</strong> 2732; &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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8q24.3
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Rothmund-Thomson syndrome, type 2
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268400
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Autosomal recessive
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3
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RECQL4
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603780
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that Rothmund-Thomson syndrome type 2 (RTS2) is caused by homozygous or compound heterozygous mutation in the DNA helicase gene RECQL4 (603780) on chromosome 8q24.</p>
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<strong>Description</strong>
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<p>Rothmund-Thomson syndrome type 2 (RTS2) is an autosomal recessive disorder characterized by poikiloderma, congenital bone defects, and an increased risk of osteosarcoma in childhood and skin cancer later in life. The skeletal abnormalities may be overt (frontal bossing, saddle nose, and congenital radial ray defects) and/or subtle (visible only by radiographic analysis) (summary by Larizza et al., 2010). </p><p><strong><em>Genetic Heterogeneity of Rothmund-Thomson Syndrome</em></strong></p><p>
Rothmund-Thomson syndrome type 1 (RTS1; 618625) is caused by mutation in the ANAPC1 gene (608473) on chromosome 2q13.</p><p>Rothmund-Thomson syndrome type 3 (RTS3; 615789) is caused by mutation in the CRIPT gene (604594) on chromosome 2p21.</p><p>Rothmund-Thomson syndrome type 4 (RTS4; 620819) is caused by mutation in the DNA2 gene (601810) on chromosome 10q21.</p>
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<strong>Clinical Features</strong>
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<p>On the basis of their analysis of the clinical and molecular spectra of RTS, Wang et al. (2003) suggested that there may be at least 2 forms of the disorder: a form as originally described by Rothmund (1868), associated with the characteristic poikiloderma but not with osteosarcoma, which they designated 'type 1;' and a form characterized by poikiloderma with an increased risk of osteosarcoma and deleterious mutations in the RECQL4 gene (603780), which they designated 'type 2.' </p><p>Rothmund (1868) described 2 related consanguineous families in the small Walser valley in Austria in which 4 girls and 1 boy had lenticular opacities with skin disease. According to Waardenburg et al. (1961), this family was further investigated by Siemens. Waardenburg et al. (1961) described the disorder as a hereditary dermatosis characterized by atrophy, pigmentation, and telangiectasia and frequently accompanied by juvenile cataract, saddle nose, congenital bone defects, disturbances of hair growth, and hypogonadism. Prognosis for survival is fairly good. In the disorder described by Thomson (1936), saddle nose was not present and cataract did not occur. An excellent color illustration was provided by Thomson (1936).</p><p>Greaves and Inman (1969) described a brother and sister, born of healthy unrelated parents, as having Morquio syndrome (253000, 253010) with previously unrecognized cutaneous manifestations. However, specific enzyme assays later excluded this diagnosis. Spellacy et al. (1981) reported extensive investigations which appeared to delineate the condition as a 'new' disorder. In addition to having severe skeletal dysplasia, the sibs had cutaneous atrophy with striking telangiectases and shallow indolent cutaneous ulcers, mesodermal dysgenesis of the iris, and joint abnormalities. The 15-year-old brother had severe kyphoscoliosis and hypermobility of some joints, with a restricted range of motion in other joints. His 17-year-old sister, who had bilateral congenitally dislocated hips, was less severely affected. The telangiectasia in both patients was generalized and associated with sensitivity to the sun. The odontoid process was normal and there was no corneal clouding. Moss (1990) reviewed the 2 patients when they were aged 25 and 27 years and concluded it was 'now clear that their disorder is the Rothmund-Thomson syndrome.' At 25 years of age, the brother was 97 cm tall, and photographs demonstrated saddle-nose. The telangiectasia on the face and extensor surfaces of the limbs, most marked on the hands and with wrinkling of the affected skin, was striking. In addition to the previously described changes in the iris, there were bilateral nuclear and posterior cortical lens opacities precluding a clear view of the fundus. The sister had iris atrophy but no cataracts. </p><p>Starr et al. (1985) reported 2 cases and emphasized the less well-known nondermatologic features, namely, hypodontia, soft tissue contractures, proportionate short stature, hypogonadism, anemia, and osteogenic sarcoma. Birth weight in the 2 cases was 3 kg and 2.83 kg. </p><p>Drouin et al. (1993) described osteosarcoma of the distal femoral metaphysis in an 11-year-old French Canadian boy with RTS. Several such cases had previously been reported. </p><p>Pujol et al. (2000) reported 2 patients with variable presentations of Rothmund-Thomson syndrome. Initial presenting symptoms included growth deficiency and absent thumbs in 1 patient and osteogenic sarcoma and poikiloderma in the other. The growth-deficient patient was found to have growth hormone deficiency and a subnormal response to growth hormone supplementation. Neither malformations nor growth deficiency was present in the patient with osteogenic sarcoma and her only other manifestation of RTS was poikiloderma. Pujol et al. (2000) suggested that RTS should be considered in all patients with osteogenic sarcoma, particularly if associated with skin changes. The authors pointed out that Lindor et al. (1996) had reported a brother and sister of Mexican descent with marked short stature, poikiloderma, absent or hypoplastic thumbs, osteogenic sarcoma, and no cataracts. They stated that these were the sibs in whom Kitao et al. (1999) had found mutations in the RECQL4 gene. </p><p>Wang et al. (2001) identified a cohort of 41 patients with RTS to better define the clinical profile, diagnostic criteria, and management of the disorder. Patients diagnosed with RTS were ascertained by referrals from dermatology, ophthalmology, genetics, and oncology or through direct contact with the patient's family. Medical information was obtained from interviews with physicians, patients, and their parents and a review of medical records. Age at ascertainment ranged from 9 months to 42 years. There were 28 males and 13 females. All subjects displayed a characteristic rash. Thirteen subjects had osteosarcoma (32%), 8 had radial defects (20%), 7 had gastrointestinal findings (17%), 2 had cataracts (6%), and 1 had skin cancer (2%). The gastrointestinal findings were feeding problems as infants, including chronic emesis or diarrhea, with some patients requiring tube feeding. One had documented duodenal stenosis, but the others had no clear explanation for the symptoms. Of the patients without osteosarcoma, 22 of 28 were less than 15 years old and thus remained at significant risk for this tumor. Compared with historical reports, this study showed a clinical profile of RTS that included a higher prevalence of osteosarcoma and fewer cataracts. </p><p>In 12 patients with RTS2 in whom Suter et al. (2016) identified homozygous or compound heterozygous mutations in the RECQL4 gene, the most common features were poikiloderma or other skin lesions (100%), growth retardation (83%), and skeletal manifestations (75%). </p><p><strong><em>Clinical Variability</em></strong></p><p>
Hilhorst-Hofstee et al. (2000) described a syndrome observed in 3 isolated patients, the features of which included bilateral radial aplasia, short stature, an inflammatory based 'elastic' pyloric stenosis, a panenteric inflammatory gut disorder that appears to be due to an autoimmune process, and poikiloderma. Other features in individual cases included cleft palate, micrognathia, anal atresia, patellar aplasia/hypoplasia, and sensorineural deafness. Hilhorst-Hofstee et al. (2000) suggested that the combination may represent a severe form of Rothmund-Thomson syndrome or possibly a previously unrecognized condition. </p>
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<strong>Inheritance</strong>
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<p>Rothmund-Thomson syndrome type 2 is inherited as an autosomal recessive disorder (Kitao et al., 1999). </p>
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<strong>Clinical Management</strong>
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<p>Wang et al. (2001) recommended baseline skeletal radiographs of the long bones by age 5 years for all patients with RTS, since patients often have underlying skeletal dysplasias and subsequent films based on clinical suspicion of osteosarcoma can be interpreted more easily in comparison to baseline findings. They stated that it is unclear whether RTS patients are more sensitive to the effects of chemotherapy and radiation. There had been no reports of increased toxicity to treatment comparable to that experienced by ataxia-telangiectasia (208900) patients treated for cancer. </p>
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<strong>Cytogenetics</strong>
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<p>Ying et al. (1990) described trisomy 8 mosaicism in association with Rothmund-Thomson syndrome. Der Kaloustian et al. (1990) found mosaic trisomy 8 and mosaic supernumerary i(2q) in fibroblasts from normal skin; lymphocytes, however, had a normal karyotype. Orstavik et al. (1994) likewise found instability of lymphocyte chromosomes in a young girl who had severe skeletal abnormalities of the upper limbs with absence of both radii, short dysmorphic ulnae, a rudimentary right thumb, and aplasia of the left thumb. She also had anal atresia with a rectovaginal fistula. Poikiloderma developed on the face and extensor surfaces of the limbs beginning at the age of 3 months. Mental development was normal. </p><p>Lindor et al. (1996) reported a brother and sister with typical clinical manifestations of RTS and tibial sarcoma. Three cell lines [46,XY; 47,XY,+8; 47,XY,+i(8q)] were found in lymphocyte cultures of the brother and 2 cell lines [46,XX; 47,XX,+i(8q)] were detected in the sister. FISH studies with a probe specific for the chromosome 8 centromere showed 3 chromosome 8 signals in 4 to 16% of uncultivated lymphocytes and buccal cells of these patients, suggesting the in vivo presence of abnormal cell lines. RTS may be associated with clonal rearrangements causing acquired somatic mosaicism. </p>
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<span class="mim-font">
<strong>Genotype/Phenotype Correlations</strong>
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<p>Martins et al. (2023) reviewed Rothmund-Thomson syndrome and the 4 RTS-associated genes. They stated that because of the small number patients, no clear genotype-phenotype correlations could be drawn. However, features common to all RTS patients included poikiloderma, short stature, and sparse hair/eyebrows/eyelashes. In contrast, radial ray defects were most common in patients with RECQL4-associated RTS (RTS2), and cataracts were almost exclusively reported in patients with mutation in the ANAPC1 (608473) or DNA2 (601810) genes, with juvenile onset in the former and congenital onset in the latter. ANAPC1- and DNA2-associated RTS patients (RTS1 (618625) and RTS4 (620819), respectively) also shared a high prevalence of growth hormone deficiency. Neurologic involvement, including developmental delay, intellectual disability, and/or seizures, was most common in CRIPT (604594)-associated RTS (RTS3; 615789), and microcephaly was most frequently seen in both CRIPT- and DNA2-mutated patients. Osteosarcoma was reported only in RECQL4-associated RTS, but the authors noted that the patients in the other groups were still young and that long-term follow-up would be required to determine whether the increased cancer risk was restricted to the RECQL4 group. Martins et al. (2023) stated that the RTS-associated genes have no obvious shared function; although their involvement in DNA replication, DNA repair, and/or cell-cycle progression points suggested a shared defect in at least 1 of those processes, the precise nature of the putative shared pathway remained to be clarified. </p>
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<strong>Molecular Genetics</strong>
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<p>In a Mexican brother and sister with Rothmund-Thomson syndrome and in an isolated case, Kitao et al. (1999) identified compound heterozygous mutations in the helicase gene RECQL4 (603780.0001-603780.0004). In 4 other patients, no mutation was found, suggesting genetic heterogeneity. </p><p>In 2 brothers with RTS, Lindor et al. (2000) identified compound heterozygosity for mutations in the RECQL4 gene (603780.0005 and 603780.0006). One brother died at age 9 years from osteosarcoma of the right calcaneus and right iliac wing, whereas the other brother was diagnosed at age 21 years with osteoblastic osteosarcoma of the distal radius. </p><p>In a 19-year-old Caucasian male patient with RTS, Beghini et al. (2003) identified compound heterozygosity for mutations in the RECQL4 gene (603780.0005 and 603780.0008). </p><p>Wang et al. (2003) analyzed the RECQL4 gene in 33 RTS patients and identified 23 patients, including all 11 patients with osteosarcoma, who carried at least 1 of 19 truncating mutations (see, e.g., 603780.0002). The authors concluded that RECQL4 loss-of-function mutations occur in approximately two-thirds of RTS patients and are associated with the risk of osteosarcoma. </p><p>Simon et al. (2010) reported a 21-year-old male with RTS who was compound heterozygous for mutations in the RECQL4 gene (603780.0015 and 603780.0016) and who developed 4 malignant diseases: large-cell anaplastic T-cell lymphoma with histologic features of the syncytial variant of nodular sclerosing Hodgkin lymphoma at age 9.3 years; diffuse large B-cell lymphoma, centroblastic variant, at age 14.3 years; osteosarcoma at age 14.6; and acute leukemia at age 21.6 years. Despite achieving remission with the first 3 malignancies, including spontaneous remission of the diffuse large cell lymphoma, the patient died from leukemia progression at age 21.9 years. </p><p>By screening DNA samples from 43 index patients with RTS for variants in the 21 exons of the RECQL4 gene by PCR, SSCP-PAGE analysis, and/or Sanger sequencing, Suter et al. (2016) identified 23 different RECQL4 mutations, 10 of which were novel, in 18 patients. The novel mutations included 5 frameshift, 3 in-frame, 1 nonsense, and 1 missense. Twelve patients had homozygous or compound heterozygous mutations; in 5 patients, only 1 mutation was identified, and in 1 patient 3 mutations were identified. </p><p><strong><em>Heterogeneity</em></strong></p><p>
Wang et al. (2003) analyzed the RECQL4 gene in 33 RTS patients and found an absence of RECQL4 mutations in 10 patients. Analysis of a family with an affected sib pair excluded RECQL4 as a recessive locus for RTS in the family, arguing strongly for genetic heterogeneity in RTS. </p><p>Simon et al. (2010) stated that only 40 to 66% of patients with RTS have been found to have mutation in the RECQL4 gene, indicating genetic heterogeneity. </p>
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<strong>Animal Model</strong>
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<p>Mann et al. (2005) created a viable Recql4-mutant mouse model. Mutant mice exhibited a distinctive skin abnormality, birth defects of the skeletal system, genomic instability, and increased cancer susceptibility in a sensitized genetic background. Cells from Recql4-mutant mice had high frequencies of premature centromere separation and aneuploidy. The authors proposed a role for Recql4 in sister-chromatid cohesion, and suggested that chromosomal instability may be the underlying cause of cancer predisposition and birth defects in these mutant mice. </p>
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<strong>See Also:</strong>
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Blinstrub et al. (1964); Block and Stauffer (1929); Cole et al.
(1945); Dechenne et al. (1983); Franceschetti (1953); Hall et al.
(1980); Kraus et al. (1970); Sexton (1954); Taylor (1957)
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<strong>REFERENCES</strong>
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<p class="mim-text-font">
Beghini, A., Castorina, P., Roversi, G., Modiano, P., Larizza, L.
<strong>RNA processing defects of the helicase gene RECQL4 in a compound heterozygous Rothmund-Thomson patient.</strong>
Am. J. Med. Genet. 120A: 395-399, 2003.
[PubMed: 12838562]
[Full Text: https://doi.org/10.1002/ajmg.a.20154]
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Blinstrub, R. S., Lehman, R., Steinberg, T. H.
<strong>Poikiloderma congenitale: report of two cases.</strong>
Arch. Derm. 89: 659-664, 1964.
[PubMed: 14122096]
[Full Text: https://doi.org/10.1001/archderm.1964.01590290025004]
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</li>
<li>
<p class="mim-text-font">
Block, B., Stauffer, H.
<strong>Skin diseases of endocrine system (dyshormonal dermatoses): poikiloderma-like changes in connection with under development of the sexual glands and dystrophia adiposogenitalis.</strong>
Arch. Derm. Syph. 19: 22-34, 1929.
</p>
</li>
<li>
<p class="mim-text-font">
Cole, H. N., Giffen, H. K., Simmons, J. T., Stroud, G. M., III.
<strong>Congenital cataracts in sisters with congenital ectodermal dysplasia.</strong>
JAMA 129: 723-728, 1945.
</p>
</li>
<li>
<p class="mim-text-font">
Dechenne, C., Chantraine, J. M., Davin, J. C.
<strong>A Rothmund-Thomson case with hypertension.</strong>
Clin. Genet. 24: 266-272, 1983.
[PubMed: 6641003]
[Full Text: https://doi.org/10.1111/j.1399-0004.1983.tb00081.x]
</p>
</li>
<li>
<p class="mim-text-font">
Der Kaloustian, V. M., McGill, J. J., Vekemans, M., Kopelman, H. R.
<strong>Clonal lines of aneuploid cells in Rothmund-Thomson syndrome.</strong>
Am. J. Med. Genet. 37: 336-339, 1990.
[PubMed: 2260560]
[Full Text: https://doi.org/10.1002/ajmg.1320370308]
</p>
</li>
<li>
<p class="mim-text-font">
Drouin, C. A., Mongrain, E., Sasseville, D., Bouchard, H.-L., Drouin, M.
<strong>Rothmund-Thomson syndrome with osteosarcoma.</strong>
J. Am. Acad. Derm. 28: 301-305, 1993.
[PubMed: 8436644]
[Full Text: https://doi.org/10.1016/0190-9622(93)70040-z]
</p>
</li>
<li>
<p class="mim-text-font">
Franceschetti, A.
<strong>Les dysplasies ectodermiques et les syndromes hereditaires apparentes.</strong>
Dermatologica 106: 129-156, 1953.
[PubMed: 13094980]
</p>
</li>
<li>
<p class="mim-text-font">
Greaves, M. W., Inman, P. M.
<strong>Cutaneous changes in the Morquio syndrome.</strong>
Brit. J. Derm. 81: 29-36, 1969.
[PubMed: 4237090]
[Full Text: https://doi.org/10.1111/j.1365-2133.1969.tb15916.x]
</p>
</li>
<li>
<p class="mim-text-font">
Hall, J. C., Pagon, R. A., Wilson, K. M.
<strong>Rothmund-Thomson syndrome with severe dwarfism.</strong>
Am. J. Dis. Child. 134: 165-169, 1980.
[PubMed: 7352442]
[Full Text: https://doi.org/10.1001/archpedi.1980.02130140039013]
</p>
</li>
<li>
<p class="mim-text-font">
Hilhorst-Hofstee, Y., Shah, N., Atherton, D., Harper, J. I., Milla, P., Winter, R. M.
<strong>Radial aplasia, poikiloderma and auto-immune enterocolitis--new syndrome or severe form of Rothmund-Thomson syndrome?</strong>
Clin. Dysmorph. 9: 79-85, 2000.
[PubMed: 10826616]
[Full Text: https://doi.org/10.1097/00019605-200009020-00001]
</p>
</li>
<li>
<p class="mim-text-font">
Kitao, S., Shimamoto, A., Goto, M., Miller, R. W., Smithson, W. A., Lindor, N. M., Furuichi, Y.
<strong>Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome.</strong>
Nature Genet. 22: 82-84, 1999.
[PubMed: 10319867]
[Full Text: https://doi.org/10.1038/8788]
</p>
</li>
<li>
<p class="mim-text-font">
Kraus, B. S., Gottlieb, M. A., Meliton, H. R.
<strong>The dentition in Rothmund&#x27;s syndrome.</strong>
J. Am. Dent. Assoc. 81: 895-915, 1970.
[PubMed: 5271915]
</p>
</li>
<li>
<p class="mim-text-font">
Larizza, L., Roversi, G., Volpi, L.
<strong>Rothmund-Thomson syndrome.</strong>
Orphanet J. Rare Dis. 5: 2, 2010. Note: Electronic Article.
[PubMed: 20113479]
[Full Text: https://doi.org/10.1186/1750-1172-5-2]
</p>
</li>
<li>
<p class="mim-text-font">
Lindor, N. M., Devries, E. M. G., Michels, V. V., Schad, C. R., Jalal, S. M., Donovan, K. M., Smithson, W. A., Kvols, L. K., Thibodeau, S. N., Dewald, G. W.
<strong>Rothmund-Thomson syndrome in siblings: evidence for acquired in vivo mosaicism.</strong>
Clin. Genet. 49: 124-129, 1996.
[PubMed: 8737976]
[Full Text: https://doi.org/10.1111/j.1399-0004.1996.tb03270.x]
</p>
</li>
<li>
<p class="mim-text-font">
Lindor, N. M., Furuichi, Y., Kitao, S., Shimamoto, A., Arndt, C., Jalal, S.
<strong>Rothmund-Thomson syndrome due to RECQ4 helicase mutations: report and clinical and molecular comparisons with Bloom syndrome and Werner syndrome.</strong>
Am. J. Med. Genet. 90: 223-228, 2000.
[PubMed: 10678659]
[Full Text: https://doi.org/10.1002/(sici)1096-8628(20000131)90:3&lt;223::aid-ajmg7&gt;3.0.co;2-z]
</p>
</li>
<li>
<p class="mim-text-font">
Mann, M. B., Hodges, C. A., Barnes, E., Vogel, H., Hassold, T. J., Luo, G.
<strong>Defective sister-chromatid cohesion, aneuploidy and cancer predisposition in a mouse model of type II Rothmund-Thomson syndrome.</strong>
Hum. Molec. Genet. 14: 813-825, 2005.
[PubMed: 15703196]
[Full Text: https://doi.org/10.1093/hmg/ddi075]
</p>
</li>
<li>
<p class="mim-text-font">
Martins, D. J., Di Lazzaro Filho, R., Bertola, D. R., Hoch, N. C.
<strong>Rothmund-Thomson syndrome, a disorder far from solved.</strong>
Front Aging 4: 1296409, 2023.
[PubMed: 38021400]
[Full Text: https://doi.org/10.3389/fragi.2023.1296409]
</p>
</li>
<li>
<p class="mim-text-font">
Moss, C.
<strong>Rothmund-Thomson syndrome: a report of two patients and a review of the literature.</strong>
Brit. J. Derm. 122: 821-829, 1990.
[PubMed: 2196075]
[Full Text: https://doi.org/10.1111/j.1365-2133.1990.tb06272.x]
</p>
</li>
<li>
<p class="mim-text-font">
Orstavik, K. H., McFadden, N., Hagelsteen, J., Ormerod, E., van der Hagen, C. B.
<strong>Instability of lymphocyte chromosomes in a girl with Rothmund-Thomson syndrome.</strong>
J. Med. Genet. 31: 570-572, 1994.
[PubMed: 7966195]
[Full Text: https://doi.org/10.1136/jmg.31.7.570]
</p>
</li>
<li>
<p class="mim-text-font">
Pujol, L. A., Erickson, R. P., Heidenreich, R. A., Cunniff, C.
<strong>Variable presentation of Rothmund-Thomson syndrome.</strong>
Am. J. Med. Genet. 95: 204-207, 2000.
[PubMed: 11102924]
</p>
</li>
<li>
<p class="mim-text-font">
Rothmund, A.
<strong>Ueber Cataracte in Verbindung mit einer eigenthuemlichen Hautdegeneration.</strong>
Albrecht von Graefes Arch. Klin. Exp. Ophthal. 14: 159-182, 1868.
</p>
</li>
<li>
<p class="mim-text-font">
Sexton, G. B.
<strong>Thomson&#x27;s syndrome (poikiloderma congenitale).</strong>
Canad. Med. Assoc. J. 70: 662-665, 1954.
[PubMed: 13160909]
</p>
</li>
<li>
<p class="mim-text-font">
Simon, T., Kohlhase, J., Wilhelm, C., Kochanek, M., De Carolis, B., Berthold, F.
<strong>Multiple malignant diseases in a patient with Rothmund-Thomson syndrome with RECQL4 mutations: case report and literature review.</strong>
Am. J. Med. Genet. 152A: 1575-1579, 2010.
[PubMed: 20503338]
[Full Text: https://doi.org/10.1002/ajmg.a.33427]
</p>
</li>
<li>
<p class="mim-text-font">
Spellacy, E., Gibbs, D. A., Watts, R. W. E.
<strong>A newly recognized syndrome of connective tissue dysplasia in siblings (previously described as a variant of Morquio disease).</strong>
Quart. J. Med. 50: 377-415, 1981.
[PubMed: 6805033]
</p>
</li>
<li>
<p class="mim-text-font">
Starr, D. G., McClure, J. P., Connor, J. M.
<strong>Non-dermatological complications and genetic aspects of the Rothmund-Thomson syndrome.</strong>
Clin. Genet. 27: 102-104, 1985.
[PubMed: 3856492]
[Full Text: https://doi.org/10.1111/j.1399-0004.1985.tb00192.x]
</p>
</li>
<li>
<p class="mim-text-font">
Suter, A.-A., Itin, P., Heinimann, K., Ahmed, M., Ashraf, T., Fryssira, H., Kini, U., Lapunzina, P., Miny, P., Sommerlund, M., Suri, M., Vaeth, S., Vasudevan, P., Gallati, S.
<strong>Rothmund-Thomson syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.</strong>
Molec. Genet. Genomic Med. 4: 359-366, 2016.
[PubMed: 27247962]
[Full Text: https://doi.org/10.1002/mgg3.209]
</p>
</li>
<li>
<p class="mim-text-font">
Taylor, W. B.
<strong>Rothmund&#x27;s syndrome--Thomson&#x27;s syndrome.</strong>
Arch. Derm. 75: 236-244, 1957.
[PubMed: 13393794]
[Full Text: https://doi.org/10.1001/archderm.1957.01550140080013]
</p>
</li>
<li>
<p class="mim-text-font">
Thomson, M. S.
<strong>Poikiloderma congenitale.</strong>
Brit. J. Derm. 48: 221-234, 1936.
</p>
</li>
<li>
<p class="mim-text-font">
Waardenburg, P. J., Franceschetti, A., Klein, D.
<strong>Genetics and Ophthalmology. Vol. 1</strong>
Springfield, Ill.: Charles C Thomas (pub.) 1961. Pp. 895-897.
</p>
</li>
<li>
<p class="mim-text-font">
Wang, L. L., Gannavarapu, A., Kozinetz, C. A., Levy, M. L., Lewis, R. A., Chintagumpala, M. M., Ruiz-Maldanado, R., Contreras-Ruiz, J., Cunniff, C., Erickson, R. P., Lev, D., Rogers, M., Zackai, E. H., Plon, S. E.
<strong>Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome.</strong>
J. Nat. Cancer Inst. 95: 669-674, 2003.
[PubMed: 12734318]
[Full Text: https://doi.org/10.1093/jnci/95.9.669]
</p>
</li>
<li>
<p class="mim-text-font">
Wang, L. L., Levy, M. L., Lewis, R. A., Chintagumpala, M. M., Lev, D., Rogers, M., Plon, S. E.
<strong>Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients.</strong>
Am. J. Med. Genet. 102: 11-17, 2001.
[PubMed: 11471165]
[Full Text: https://doi.org/10.1002/1096-8628(20010722)102:1&lt;11::aid-ajmg1413&gt;3.0.co;2-a]
</p>
</li>
<li>
<p class="mim-text-font">
Ying, K. L., Oizumi, J., Curry, C. J. R.
<strong>Rothmund-Thomson syndrome associated with trisomy 8 mosaicism.</strong>
J. Med. Genet. 27: 258-260, 1990.
[PubMed: 2325107]
[Full Text: https://doi.org/10.1136/jmg.27.4.258]
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