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- #107480 - TOWNES-BROCKS SYNDROME 1; TBS1
- OMIM
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<span class="h4">#107480</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/107480"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS107480"> <strong>Phenotypic Series</strong> </a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
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<a href="#pathogenesis">Pathogenesis</a>
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<a href="#cytogenetics">Cytogenetics</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=TOWNES-BROCKS SYNDROME" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div 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:0050887" 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/107480" 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:0050887" 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>
</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> 24750000<br />
<strong>ORPHA:</strong> 857<br />
<strong>DO:</strong> 0050887<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>
107480
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
TOWNES-BROCKS SYNDROME 1; TBS1
</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">
RENAL-EAR-ANAL-RADIAL SYNDROME<br />
REAR SYNDROME<br />
ANUS, IMPERFORATE, WITH HAND, FOOT, AND EAR ANOMALIES<br />
DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIES
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
<div>
<a id="includedTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
Other entities represented in this entry:
</span>
</p>
</div>
<div>
<span class="h3 mim-font">
TOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME, INCLUDED
</span>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/431?start=-3&limit=10&highlight=431">
16q12.1
</a>
</span>
</td>
<td>
<span class="mim-font">
Townes-Brocks branchiootorenal-like syndrome
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/107480"> 107480 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
SALL1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602218"> 602218 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/16/431?start=-3&limit=10&highlight=431">
16q12.1
</a>
</span>
</td>
<td>
<span class="mim-font">
Townes-Brocks syndrome 1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/107480"> 107480 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
SALL1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/602218"> 602218 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/107480" 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/PS107480" class="btn btn-info" role="button"> Phenotypic Series </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<div class="btn-group">
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
PheneGene Graphics <span class="caret"></span>
</button>
<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/107480" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/107480" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
</ul>
</div>
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Head </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Microcephaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1148757008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1148757008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q02</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/742.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">742.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551563&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551563</a>, <a href="https://bioportal.bioontology.org/search?q=C0025958&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025958</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Microcephaly-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Ears </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Overfolding of superior helix <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1865304&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1865304</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004453" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004453</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004453" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004453</a>]</span><br /> -
Large ears <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/275480001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">275480001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0554972&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0554972</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000400" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000400</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000400" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000400</a>]</span><br /> -
Preauricular tags <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204245004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204245004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q17.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q17.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860816&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860816</a>, <a href="https://bioportal.bioontology.org/search?q=C0266609&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266609</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000384" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000384</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0030024" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030024</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000384" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000384</a>]</span><br /> -
Preauricular pits <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1955003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1955003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266610&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266610</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004467" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004467</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004467" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004467</a>]</span><br /> -
Microtia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/35045004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">35045004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q17.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q17.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/744.23" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">744.23</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0152423&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0152423</a>, <a href="https://bioportal.bioontology.org/search?q=C1657142&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1657142</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008551" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008551</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008551" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008551</a>]</span><br /> -
Satyr ear <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4048833&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4048833</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030676" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030676</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030676" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030676</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=611188b5cf58d229071ac857b8c77bfd" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Satyr_Ear-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=611188b5cf58d229071ac857b8c77bfd&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 /> -
Sensorineural hearing loss <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60700002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60700002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H90.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H90.5</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/389.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/389.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018784&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018784</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000407" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000407</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000407" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000407</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Eyes </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Chorioretinal coloboma (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204173008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204173008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/39302008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">39302008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q14.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q14.8</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/743.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.52</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3540764&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3540764</a>, <a href="https://bioportal.bioontology.org/search?q=C0240896&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240896</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000480" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000480</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000567" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000567</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000567" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000567</a>]</span><br /> -
Duane anomaly (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60318001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60318001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.81</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/378.71" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">378.71</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013261&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013261</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009921" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009921</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009921" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009921</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> CARDIOVASCULAR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Heart </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Tetralogy of Fallot <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86299006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86299006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q21.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q21.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/745.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">745.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0039685&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039685</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001636" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001636</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001636" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001636</a>]</span><br /> -
Ventricular septal defect <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/30288003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">30288003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253549006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253549006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/768552007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">768552007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q21.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q21.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/745.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">745.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018818&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018818</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001629" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001629</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001629" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001629</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> ABDOMEN </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Gastrointestinal </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Duodenal atresia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/51118003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">51118003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266174&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266174</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002247" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002247</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002247" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002247</a>]</span><br /> -
Imperforate anus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204712000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204712000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q42.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q42.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003466&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003466</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002023" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002023</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002023" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002023</a>]</span><br /> -
Anal stenosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/69914001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">69914001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0262374&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0262374</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002025" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002025</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002025" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002025</a>]</span><br /> -
Anterior placement of anus <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862687&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862687</a>]</span><br /> -
Rectovaginal/rectoperineal fistula <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862688&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862688</a>]</span><br /> -
Gastroesophageal reflux <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/235595009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">235595009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/722884003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">722884003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/698065002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">698065002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K21" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K21</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K21.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K21.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/530.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">530.81</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3813607&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3813607</a>, <a href="https://bioportal.bioontology.org/search?q=C4317146&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4317146</a>, <a href="https://bioportal.bioontology.org/search?q=C0017168&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0017168</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002020" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002020</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002020" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002020</a>]</span><br /> -
Umbilical hernia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/396347007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">396347007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K42" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K42</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/K42.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K42.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/553.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">553.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019322&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019322</a>, <a href="https://bioportal.bioontology.org/search?q=C0041636&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0041636</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001537" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001537</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001537" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001537</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GENITOURINARY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> External Genitalia (Male) </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hypospadias <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204888000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204888000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/416010008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">416010008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q54.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q54.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q54.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q54.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q54" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q54</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/752.61" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">752.61</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0848558&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0848558</a>, <a href="https://bioportal.bioontology.org/search?q=C1691215&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1691215</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003244" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003244</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000047" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000047</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000047" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000047</a>]</span><br /> -
Bifid scrotum <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/236780002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">236780002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0341787&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0341787</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000048" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000048</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000048" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000048</a>]</span><br /> -
Prominent midline perineal raphe <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862685&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862685</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Internal Genitalia (Male) </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Cryptorchidism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204878001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204878001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q53.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q53.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/752.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">752.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0010417&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0010417</a>, <a href="https://bioportal.bioontology.org/search?q=C5441920&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5441920</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000028" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000028</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000028" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000028</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Internal Genitalia (Female) </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Rectovaginal fistula <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/65619001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">65619001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N82.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N82.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0034895&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0034895</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000143" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000143</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000143" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000143</a>]</span><br /> -
Vaginal aplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862686&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862686</a>]</span><br /> -
Bifid uterus <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850327&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850327</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000136" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000136</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000136" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000136</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Kidneys </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hypoplastic kidneys <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32659003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32659003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q60.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q60.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266295&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266295</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000089" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000089</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000089" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000089</a>]</span><br /> -
Multicystic kidneys <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/737562008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">737562008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q61.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q61.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3714581&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3714581</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000003</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000003</a>]</span><br /> -
Dysplastic kidneys <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204949001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204949001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q61.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q61.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/753.15" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">753.15</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3536714&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3536714</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000110" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000110</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000110" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000110</a>]</span><br /> -
Renal failure <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42399005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42399005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N19" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N19</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/586" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">586</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035078&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035078</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000083" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000083</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000083" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000083</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Ureters </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Vesicoureteral reflux <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/197811007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">197811007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N13.70" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N13.70</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N13.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N13.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/593.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">593.7</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0042580&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0042580</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000076" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000076</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000076" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000076</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Bladder </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Urethral valves <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/297163001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">297163001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266345&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266345</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010481" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010481</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>
<div>
<span class="h5 mim-font">
<em> Hands </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Broad thumb <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249773003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249773003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0426891&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426891</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011304" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011304</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011304" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011304</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=eae6f811e3f6c956db075b9f84f69df5" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/_RSGAykd6BDbQtzuAqvpxtFbBNMMsvXr-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=eae6f811e3f6c956db075b9f84f69df5&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 /> -
Bifid thumb <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/51219000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">51219000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4082168&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4082168</a>, <a href="https://bioportal.bioontology.org/search?q=C0265608&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265608</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009944" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009944</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009944" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009944</a>]</span><br /> -
Triphalangeal thumb <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/205308004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">205308004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q74.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q74.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0241397&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0241397</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001199" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001199</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001199" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001199</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=35de1477c268a6d42f86f25677a7609c" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/XR34kRDtve34dB3bQseXeWmKYcyc5kau-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=35de1477c268a6d42f86f25677a7609c&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 /> -
Preaxial polydactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/205135003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">205135003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0345354&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0345354</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100258" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100258</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100258" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100258</a>]</span><br /> -
Pseudoepiphyses of second metacarpal <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862693&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862693</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006179" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006179</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006179" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006179</a>]</span><br /> -
Fusion of triquetrum and hamate <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862694&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862694</a>]</span><br /> -
Absent triquetrum and navicular bones <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862695&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862695</a>]</span><br /> -
2-3 and 3-4 finger syndactyly <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862696&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862696</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">
- Fusion of metatarsals <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862697&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862697</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001440" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001440</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001440" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001440</a>]</span><br /> -
Short metatarsals <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849020&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849020</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010743" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010743</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010743" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010743</a>]</span><br /> -
Absent/hypoplastic third toe <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862698&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862698</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010331" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010331</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010331" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010331</a>]</span><br /> -
Fifth toe clinodactyly <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861397&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861397</a>]</span><br /> -
3-4 toe syndactyly <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1834062&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1834062</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009779" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009779</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009779" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009779</a>]</span><br />
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<em> Central Nervous System </em>
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- Impaired intellectual development (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4747273&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4747273</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span><br />
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<strong> ENDOCRINE FEATURES </strong>
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- Hypothyroidism (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/40930008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">40930008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E03.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E03.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/244.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">244.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020676&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020676</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000821" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000821</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000821" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000821</a>]</span><br />
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<strong> MOLECULAR BASIS </strong>
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- Caused by mutation in the sal-like 1 gene (SALL1, <a href="/entry/602218#0001">602218.0001</a>)<br />
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<h5>
Townes-Brocks syndrome
- <a href="/phenotypicSeries/PS107480">PS107480</a>
- 3 Entries
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<strong>Phenotype</strong>
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<strong>Inheritance</strong>
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<strong>Phenotype<br />mapping key</strong>
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<strong>Phenotype<br />MIM number</strong>
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<strong>Gene/Locus</strong>
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<strong>Gene/Locus<br />MIM number</strong>
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<a href="/geneMap/14/277?start=-3&limit=10&highlight=277"> 14q23.1 </a>
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<a href="/entry/617466"> Townes-Brocks syndrome 2 </a>
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<a href="/entry/617466"> 617466 </a>
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<a href="/entry/607861"> DACT1 </a>
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<a href="/entry/607861"> 607861 </a>
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<a href="/geneMap/16/431?start=-3&limit=10&highlight=431"> 16q12.1 </a>
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<a href="/entry/107480"> Townes-Brocks branchiootorenal-like syndrome </a>
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<a href="/entry/107480"> 107480 </a>
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<a href="/entry/602218"> SALL1 </a>
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<a href="/entry/602218"> 602218 </a>
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<span class="mim-font">
<a href="/geneMap/16/431?start=-3&limit=10&highlight=431"> 16q12.1 </a>
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<a href="/entry/107480"> Townes-Brocks syndrome 1 </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
<a href="/entry/107480"> 107480 </a>
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<a href="/entry/602218"> SALL1 </a>
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<span class="mim-font">
<a href="/entry/602218"> 602218 </a>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon &lt;span class='glyphicon glyphicon-plus-sign'&gt;&lt;/span&gt at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that Townes-Brocks syndrome-1 (TBS1) is caused by heterozygous mutation in the gene encoding the SALL1 putative transcription factor (<a href="/entry/602218">602218</a>) on chromosome 16q12.</p><p>There is also evidence that a Townes-Brocks-branchiootorenal-like syndrome is caused by heterozygous mutation in the SALL1 gene.</p>
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<a id="description" class="mim-anchor"></a>
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<strong>Description</strong>
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<p>Townes-Brocks syndrome-1 (TBS1) is characterized by the triad of imperforate anus, dysplastic ears, and thumb malformations. Minor features of the condition include hearing loss, foot malformations, renal impairment with or without renal malformations, genitourinary malformations, and congenital heart disease (<a href="#32" class="mim-tip-reference" title="Webb, B. D., Metikala, S., Wheeler, P. G., Sherpa, M. D., Houten, S. M., Horb, M. E., Schadt, E. E. &lt;strong&gt;Heterozygous pathogenic variant in DACT1 causes an autosomal-dominant syndrome with features overlapping Townes-Brocks syndrome.&lt;/strong&gt; Hum. Mutat. 38: 373-377, 2017.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/28054444/&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;28054444&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=28054444[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/10.1002/humu.23171&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="28054444">Webb et al., 2017</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28054444" 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 Townes-Brocks Syndrome</em></strong></p><p>
Townes-Brocks syndrome-2 (TBS2; <a href="/entry/617466">617466</a>) is caused by mutation in the DACT1 gene (<a href="/entry/607861">607861</a>) on chromosome 14q23.</p>
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<p><a href="#29" class="mim-tip-reference" title="Townes, P. L., Brocks, E. R. &lt;strong&gt;Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies.&lt;/strong&gt; J. Pediat. 81: 321-326, 1972.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5042490/&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;5042490&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(72)80302-0&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="5042490">Townes and Brocks (1972)</a> observed a father and 5 of his 7 children who had imperforate anus, triphalangeal thumbs, and other anomalies of the hands and feet, including fusion of metatarsals, absent bones, and supernumerary thumbs. Other features included mild sensorineural deafness, and lop ears. <a href="#23" class="mim-tip-reference" title="Reid, I. S., Turner, G. &lt;strong&gt;Familial anal abnormality.&lt;/strong&gt; J. Pediat. 88: 992-994, 1976.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1271203/&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;1271203&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(76)81061-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="1271203">Reid and Turner (1976)</a> described the same syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1271203+5042490" 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="#17" class="mim-tip-reference" title="Kurnit, D. M., Steele, M. W., Pinsky, L., Dibbins, A. &lt;strong&gt;Autosomal dominant transmission of a syndrome of anal, ear, renal, and radial congenital malformations.&lt;/strong&gt; J. Pediat. 93: 270-273, 1978.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/671168/&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;671168&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(78)80518-6&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="671168">Kurnit et al. (1978)</a> described autosomal dominant inheritance of a syndrome of anal stenosis, other anal abnormalities, deformed external ears and perceptive deafness, renal anomalies, including hypoplastic kidney, and radial dysplasia (REAR syndrome). The features are those of the VATER syndrome (<a href="/entry/192350">192350</a>), which has been subsequently expanded into the VACTERL syndrome (acronym for vertebral anomalies, anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, and other limb defects). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=671168" 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="Walpole, I. R., Hockey, A. &lt;strong&gt;Syndrome of imperforate anus, abnormalities of hands and feet, satyr ears, and sensorineural defects.&lt;/strong&gt; J. Pediat. 100: 250-252, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7199082/&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;7199082&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(82)80649-5&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="7199082">Walpole and Hockey (1982)</a> reported cases. <a href="#18" class="mim-tip-reference" title="Monteiro de Pina-Neto, J. &lt;strong&gt;Phenotypic variability in Townes-Brocks syndrome.&lt;/strong&gt; Am. J. Med. Genet. 18: 147-152, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6741990/&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;6741990&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320180118&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="6741990">Monteiro de Pina-Neto (1984)</a> reported a case in which congenital heart defect was also present and proposed that the cases of <a href="#26" class="mim-tip-reference" title="Silver, W., Steier, M., Schwartz, O., Zeichner, M. B. &lt;strong&gt;The Holt-Oram syndrome with previously undescribed associated anomalies.&lt;/strong&gt; Am. J. Dis. Child. 124: 911-914, 1972.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4639228/&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;4639228&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archpedi.1972.02110180113017&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="4639228">Silver et al. (1972)</a> were instances of this syndrome rather than the Holt-Oram syndrome (<a href="/entry/142900">142900</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6741990+4639228+7199082" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Aylsworth, A. S. &lt;strong&gt;The Townes-Brocks syndrome: a member of the anus-hand-ear family of syndromes. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 37: A43, 1985."None>Aylsworth (1985)</a> observed the Townes-Brocks syndrome in a mother and 2 children. <a href="#6" class="mim-tip-reference" title="de Vries-Van der Weerd, M.-A. C. S., Willems, P. J., Mandema, H. M., ten Kate, L. P. &lt;strong&gt;A new family with the Townes-Brocks syndrome.&lt;/strong&gt; Clin. Genet. 34: 195-200, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3180506/&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;3180506&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1988.tb02862.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="3180506">De Vries-Van der Weerd et al. (1988)</a> described TBS in a father and son. The son, the proband, showed the full spectrum of anomalies, including imperforate anus, prominent perineal raphe, rectoperineal fistula, triphalangeal thumb, preaxial hexadactyly, syndactyly, clinodactyly, preauricular protuberances, hypoplastic 'satyr' ears, sensorineural hearing loss, and urorenal anomalies. In contrast, the father showed only limb anomalies, sensorineural hearing loss, and renal anomalies. Anorectal malformations, which are present in most patients with TBS, were absent in the father. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3180506" 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="#9" class="mim-tip-reference" title="Ferraz, F. G., Nunes, L., Ferraz, M. E., Sousa, J. P., Santos, M., Carvalho, C., Maroteaux, P. &lt;strong&gt;Townes-Brocks syndrome: report of a case and review of the literature.&lt;/strong&gt; Ann. Genet. 32: 120-123, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2667456/&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;2667456&lt;/a&gt;]" pmid="2667456">Ferraz et al. (1989)</a> reported a sporadic case. The patient's 'satyr ear' and CT scans of the deformities in the ossicles of the ear were pictured. The cardiac lesion was ventricular septal defect. At birth the girl had been noted to have type I imperforate anus with rectovaginal fistula, bilateral supernumerary digits on the radial side of the thumb base, and incomplete soft tissue syndactyly between fingers 2 and 3 on the right. Bilateral symmetric mixed deafness was discovered at age 6 years. The maternal grandfather may have been affected, since he had deafness, polycystic kidneys, and a short proximal phalanx of the left fifth finger. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2667456" 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 review of the Townes-Brocks syndrome, <a href="#20" class="mim-tip-reference" title="O&#x27;Callaghan, M., Young, I. D. &lt;strong&gt;The Townes-Brocks syndrome.&lt;/strong&gt; J. Med. Genet. 27: 457-461, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2395165/&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;2395165&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.27.7.457&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="2395165">O'Callaghan and Young (1990)</a> pointed out that patients may have a prominent midline perineal raphe extending from the site of the anal orifice to the scrotum. They pictured the feet of a mother and son, both showing hypoplastic third toes overlapped by the second and fourth toes, as well as a 'satyr' form of lopped ear. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2395165" 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="#5" class="mim-tip-reference" title="Cameron, T. H., Lachiewicz, A. M., Aylsworth, A. S. &lt;strong&gt;Townes-Brocks syndrome in two mentally retarded youngsters.&lt;/strong&gt; Am. J. Med. Genet. 41: 1-4, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1951448/&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;1951448&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320410102&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="1951448">Cameron et al. (1991)</a> suggested that there may be an increase of mental retardation in persons with TBS. <a href="#12" class="mim-tip-reference" title="Ishikiriyama, S., Kudoh, F., Shimojo, N., Iwai, J., Inoue, T. &lt;strong&gt;Townes-Brocks syndrome associated with mental retardation. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 61: 191-192, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8669452/&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;8669452&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320610203&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="8669452">Ishikiriyama et al. (1996)</a> also saw a boy with both TBS and mental retardation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1951448+8669452" 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="#25" class="mim-tip-reference" title="Serville, F., Lacombe, D., Saura, R., Billeaud, C., Sergent, M. P. &lt;strong&gt;Townes-Brocks syndrome in an infant with translocation t(5;16).&lt;/strong&gt; Genet. Counsel. 4: 109-112, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8357560/&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;8357560&lt;/a&gt;]" pmid="8357560">Serville et al. (1993)</a> listed the main features of TBS as follows: abnormal placement of the anus, anal atresia or stenosis; auricular pits, fistulas, or tags; conductive and sensorineural deafness; dysplastic ears; hypoplastic or bifid thumbs; deviation of distal phalanges of the thumbs; triphalangeal thumbs; and cardiac and renal abnormalities. They noted that neither of the patients reported by <a href="#10" class="mim-tip-reference" title="Friedman, P. A., Rao, K. W., Aylsworth, A. S. &lt;strong&gt;Six patients with the Townes-Brocks syndrome including five familial cases and an association with a pericentric inversion of chromosome 16. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 41 (suppl.): A60, 1987."None>Friedman et al. (1987)</a> had thumb anomalies, but pointed to the fact that clinical variability is known in TBS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8357560" 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="#13" class="mim-tip-reference" title="Johnson, J. P., Poskanzer, L. S., Sherman, S. &lt;strong&gt;Three-generation family with resemblance to Townes-Brocks syndrome and Goldenhar/oculoauriculovertebral spectrum.&lt;/strong&gt; Am. J. Med. Genet. 61: 134-139, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8669439/&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;8669439&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(SICI)1096-8628(19960111)61:2&lt;134::AID-AJMG6&gt;3.0.CO;2-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="8669439">Johnson et al. (1996)</a> described a 3-generation family in which the grandmother and mother were thought to have Goldenhar syndrome (<a href="/entry/164210">164210</a>), but the birth of a grandson with typical features of TBS redirected the diagnosis to that possibility. The mother was of short stature with small ears, preauricular and tragal tags on the right and postauricular tag on the left, facial asymmetry, epibulbar dermoids bilaterally, micrognathia, and macrostomia with lateral extension more prominent on the right. The thumbs were triphalangeal with a previously removed, rudimentary, supernumerary digit that had been attached to the right thumb. Midline clefting of the uterus was reported. The anus was normal. The IQ at age 10 was 84; microcephaly was noted at the age of 24 years. The grandmother had small ears with preauricular tags, epibulbar dermoid on the right, and micrognathia without facial asymmetry. The thumbs were triphalangeal and the great toe on the left was bifid representing syndactyly of toes 1 and 2 or absence of 2. Genitourinary abnormalities included urethrostenosis and septate uterus. The anus showed redundant skin. Height was 147 cm. The grandson was born with an imperforate anus covered by a thin membrane requiring a minor surgical procedure. The left side of the face was smaller than the right. The ears were small with overfolding of the helix more prominent on the right which showed a small preauricular tag. Other findings were epibulbar dermoid on the left, triphalangeal thumbs with ulnar deviation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8669439" 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="#19" class="mim-tip-reference" title="Newman, W. G., Brunet, M. D., Donnai, D. &lt;strong&gt;Townes-Brocks syndrome presenting as end stage renal failure.&lt;/strong&gt; Clin. Dysmorph. 6: 57-60, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9072124/&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;9072124&lt;/a&gt;]" pmid="9072124">Newman et al. (1997)</a> reported a case of Townes-Brock syndrome in a male who presented at the age of 23 years with end-stage renal failure. He had severe hypertension and bilaterally small kidneys by ultrasound scan. Surgery had been performed after birth to correct anal stenosis. At that time the ears were noted to be low set with overfolded helices and bilateral preauricular tags, bilateral preaxial hexadactyly of the hands, and syndactyly of the third and fourth toes. Bilateral sensorineural deafness was noted at 3 years of age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9072124" 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="Kohlhase, J., Wischermann, A., Reichenbach, H., Froster, U., Engel, W. &lt;strong&gt;Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome.&lt;/strong&gt; Nature Genet. 18: 81-83, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9425907/&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;9425907&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng0198-81&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="9425907">Kohlhase et al. (1998)</a> reported 2 half-sibs with TBS, born of the same mother. Photographs illustrated the presence of duplicated triphalangeal left thumb and duplicated triphalangeal right thumb combined with a third dysplastic thumb. Dysplastic ears were also illustrated. The affected mother displayed low birth weight and presented with imperforate anus, preauricular tags, microtia and dysplastic ears, sensorineural hearing loss, bifid right thumb, and rudimentary bifid left thumb. Her son had imperforate anus type 3 with rectoperineal fistula, microtia and dysplastic ears, sensorineural hearing loss, bifid left and distally broadened right thumb. His sister likewise showed imperforate anus type 3 with rectovaginal fistula, preauricular tags, microtia and dysplastic ears, sensorineural hearing loss, bifid triphalangeal left thumb, and triple triphalangeal right thumb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9425907" 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="Doray, B., Langer, B., Stoll, C. &lt;strong&gt;Two cases of Townes-Brocks syndrome.&lt;/strong&gt; Genet. Counsel. 10: 359-367, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10631923/&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;10631923&lt;/a&gt;]" pmid="10631923">Doray et al. (1999)</a> described 2 unrelated, apparently sporadic cases of Townes-Brocks syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10631923" 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="#28" class="mim-tip-reference" title="Surka, W. S., Kohlhase, J., Neunert, C. E., Schneider, D. S., Proud, V. K. &lt;strong&gt;Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects.&lt;/strong&gt; Am. J. Med. Genet. 102: 250-257, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11484202/&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;11484202&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/1096-8628(20010815)102:3&lt;250::aid-ajmg1479&gt;3.0.co;2-q&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="11484202">Surka et al. (2001)</a> described a 3-generation family in which 7 individuals had TBS confirmed by genetic analysis (<a href="/entry/602218#0008">602218.0008</a>). Cardiac anomalies seen in this family included lethal truncus arteriosus in 1 patient and a lethal complicated defect that included pulmonary valve atresia in a second. These severe cardiac anomalies had not previously been reported in a familial case of TBS. On the basis of this family and a review of the literature, <a href="#28" class="mim-tip-reference" title="Surka, W. S., Kohlhase, J., Neunert, C. E., Schneider, D. S., Proud, V. K. &lt;strong&gt;Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects.&lt;/strong&gt; Am. J. Med. Genet. 102: 250-257, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11484202/&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;11484202&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/1096-8628(20010815)102:3&lt;250::aid-ajmg1479&gt;3.0.co;2-q&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="11484202">Surka et al. (2001)</a> suggested that cardiac evaluation is warranted in all patients with this disorder. The authors stated that hypoplastic thumbs were observed in 2 individuals in their family and therefore should be considered a feature of TBS. In fact, the thumb anomalies as indicated by the photographs were bilateral triphalangeal thumbs in at least 2 individuals, a right hypoplastic thumb with absent distal phalanx and left preaxial polydactyly and triphalangeal thumb in one, and left preaxial polydactyly and triphalangeal thumb in another. A severely affected child who died at the age of 3 days from cardiac malformations had bilateral preaxial polydactyly. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11484202" 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="#3" class="mim-tip-reference" title="Botzenhart, E. M., Green, A., Ilyina, H., Konig, R., Lowry, R. B., Lo, I. F. M., Shohat, M., Burke, L., McGaughran, J., Chafai, R., Pierquin, G., Michaelis, R. C., Whiteford, M. L., Simola, K. O. J., Rosler, B., Kohlhase, J. &lt;strong&gt;SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype.&lt;/strong&gt; Hum. Mutat. 26: 282, 2005. Note: Electronic Article.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16088922/&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;16088922&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.9362&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="16088922">Botzenhart et al. (2005)</a> reported 13 unrelated families with TBS confirmed by genetic analysis. Rare phenotypic features included hypothyroidism, gastroesophageal reflux, vaginal aplasia with bifid uterus, cryptorchidism, bifid scrotum without hypospadia scrotalis, unilateral chorioretinal coloboma with loss of vision, Duane anomaly, dorsal hypoplasia of the corpus callosum, and umbilical hernia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16088922" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#27" class="mim-tip-reference" title="Sudo, Y., Numakura, C., Abe, A., Aiba, S., Matsunaga, A., Hayasaka, K. &lt;strong&gt;Phenotypic variability in a family with Townes-Brocks syndrome.&lt;/strong&gt; J. Hum. Genet. 55: 550-551, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20520617/&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;20520617&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/jhg.2010.64&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="20520617">Sudo et al. (2010)</a> reported a Japanese family in which the 4-year-old female proband had bilateral preauricular tags, bilateral preaxial polydactyly, syndactyly of the right toe, overriding toes of the left foot, anteriorly placed and stenosed anus, mild bilateral sensorineural hearing loss, ventricular septal defect, and small right kidney. Her mother and her maternal uncle, grandfather, and great aunt were also affected. Her mother had right preaxial polydactyly, anterior placement of the anus, small right kidney, and mild sensorineural hearing loss, whereas her uncle had right preaxial polydactyly, imperforate anus, and mild hearing loss. Her grandfather and great aunt had only unilateral preaxial polydactyly and deafness. The proband and her mother were found to be heterozygous for a frameshift mutation in the SALL1 gene. <a href="#27" class="mim-tip-reference" title="Sudo, Y., Numakura, C., Abe, A., Aiba, S., Matsunaga, A., Hayasaka, K. &lt;strong&gt;Phenotypic variability in a family with Townes-Brocks syndrome.&lt;/strong&gt; J. Hum. Genet. 55: 550-551, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20520617/&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;20520617&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/jhg.2010.64&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="20520617">Sudo et al. (2010)</a> noted that there was an anticipation-like increase in severity of the phenotype with each succeeding generation in this family, and stated that similar increases in clinical severity had been observed in other TBS families, frequently in patients who inherited the disease from their mothers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20520617" 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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<div>
<a id="inheritance" class="mim-anchor"></a>
<h4 href="#mimInheritanceFold" id="mimInheritanceToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Inheritance</strong>
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<p>Autosomal dominant inheritance of TBS is well established, with multiple cases of male-to-male transmission reported by <a href="#29" class="mim-tip-reference" title="Townes, P. L., Brocks, E. R. &lt;strong&gt;Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies.&lt;/strong&gt; J. Pediat. 81: 321-326, 1972.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5042490/&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;5042490&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(72)80302-0&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="5042490">Townes and Brocks (1972)</a>, <a href="#23" class="mim-tip-reference" title="Reid, I. S., Turner, G. &lt;strong&gt;Familial anal abnormality.&lt;/strong&gt; J. Pediat. 88: 992-994, 1976.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1271203/&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;1271203&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(76)81061-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="1271203">Reid and Turner (1976)</a>, <a href="#17" class="mim-tip-reference" title="Kurnit, D. M., Steele, M. W., Pinsky, L., Dibbins, A. &lt;strong&gt;Autosomal dominant transmission of a syndrome of anal, ear, renal, and radial congenital malformations.&lt;/strong&gt; J. Pediat. 93: 270-273, 1978.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/671168/&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;671168&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(78)80518-6&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="671168">Kurnit et al. (1978)</a> and <a href="#6" class="mim-tip-reference" title="de Vries-Van der Weerd, M.-A. C. S., Willems, P. J., Mandema, H. M., ten Kate, L. P. &lt;strong&gt;A new family with the Townes-Brocks syndrome.&lt;/strong&gt; Clin. Genet. 34: 195-200, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3180506/&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;3180506&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1988.tb02862.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="3180506">de Vries-Van der Weerd et al. (1988)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1271203+5042490+671168+3180506" 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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<div>
<a id="pathogenesis" class="mim-anchor"></a>
<h4 href="#mimPathogenesisFold" id="mimPathogenesisToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Pathogenesis</strong>
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</h4>
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<p><a href="#4" class="mim-tip-reference" title="Bozal-Basterra, L., Martin-Ruiz, I., Pirone, L., Liang, Y., Sigurosson, J. O., Gonzalez-Santamarta, M., Giordano, I., Gabicagogeascoa, E., de Luca, A., Rodriguez, J. A., Wilkie, A. O. M., Kohlhase, J., Eastwood, D., Yale, C., Olsen, J. V., Rauchman, M., Anderson, K. V., Sutherland, J. D., Barrio, R. &lt;strong&gt;Truncated Sall1 impedes primary cilia function in Townes-Brocks syndrome.&lt;/strong&gt; Am. J. Hum. Genet. 102: 249-265, 2018.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/29395072/&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;29395072&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=29395072[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/10.1016/j.ajhg.2017.12.017&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="29395072">Bozal-Basterra et al. (2018)</a> showed that TBS-derived primary fibroblasts exhibit changes in SALL1 localization, a higher rate of ciliogenesis, abnormally elongated cilia, aberrant cilia disassembly, and SHH signaling defects. Through proximity proteomics, <a href="#4" class="mim-tip-reference" title="Bozal-Basterra, L., Martin-Ruiz, I., Pirone, L., Liang, Y., Sigurosson, J. O., Gonzalez-Santamarta, M., Giordano, I., Gabicagogeascoa, E., de Luca, A., Rodriguez, J. A., Wilkie, A. O. M., Kohlhase, J., Eastwood, D., Yale, C., Olsen, J. V., Rauchman, M., Anderson, K. V., Sutherland, J. D., Barrio, R. &lt;strong&gt;Truncated Sall1 impedes primary cilia function in Townes-Brocks syndrome.&lt;/strong&gt; Am. J. Hum. Genet. 102: 249-265, 2018.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/29395072/&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;29395072&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=29395072[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/10.1016/j.ajhg.2017.12.017&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="29395072">Bozal-Basterra et al. (2018)</a> identified 2 main ciliogenesis suppressors, CCP110 (<a href="/entry/609544">609544</a>) and CEP97 (<a href="/entry/615864">615864</a>), as interactors of TBS-causing truncated SALL1. The higher rate of ciliogenesis detected in TBS-derived primary fibroblasts is consistent with an observed lower amount of CCP110 and CEP97 at the mother centriole in these fibroblasts compared with controls. The authors noted that truncated SALL1, alone or with full-length SALL1, sequesters CCP110 and CEP97, disrupting cilia formation and function. <a href="#4" class="mim-tip-reference" title="Bozal-Basterra, L., Martin-Ruiz, I., Pirone, L., Liang, Y., Sigurosson, J. O., Gonzalez-Santamarta, M., Giordano, I., Gabicagogeascoa, E., de Luca, A., Rodriguez, J. A., Wilkie, A. O. M., Kohlhase, J., Eastwood, D., Yale, C., Olsen, J. V., Rauchman, M., Anderson, K. V., Sutherland, J. D., Barrio, R. &lt;strong&gt;Truncated Sall1 impedes primary cilia function in Townes-Brocks syndrome.&lt;/strong&gt; Am. J. Hum. Genet. 102: 249-265, 2018.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/29395072/&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;29395072&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=29395072[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/10.1016/j.ajhg.2017.12.017&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="29395072">Bozal-Basterra et al. (2018)</a> concluded that TBS might be considered a ciliopathy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29395072" 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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<div>
<a id="cytogenetics" class="mim-anchor"></a>
<h4 href="#mimCytogeneticsFold" id="mimCytogeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Cytogenetics</strong>
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<p><a href="#25" class="mim-tip-reference" title="Serville, F., Lacombe, D., Saura, R., Billeaud, C., Sergent, M. P. &lt;strong&gt;Townes-Brocks syndrome in an infant with translocation t(5;16).&lt;/strong&gt; Genet. Counsel. 4: 109-112, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8357560/&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;8357560&lt;/a&gt;]" pmid="8357560">Serville et al. (1993)</a> described TBS in an infant with a 2-break reciprocal translocation between chromosomes 5 and 16. They noted that <a href="#10" class="mim-tip-reference" title="Friedman, P. A., Rao, K. W., Aylsworth, A. S. &lt;strong&gt;Six patients with the Townes-Brocks syndrome including five familial cases and an association with a pericentric inversion of chromosome 16. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 41 (suppl.): A60, 1987."None>Friedman et al. (1987)</a> described father and daughter with this syndrome associated with a pericentric inversion of chromosome 16 with breakpoints at p11.2 and q12.1. Since 16p12.1 was the location of 1 of the breakpoints in the patient reported by <a href="#25" class="mim-tip-reference" title="Serville, F., Lacombe, D., Saura, R., Billeaud, C., Sergent, M. P. &lt;strong&gt;Townes-Brocks syndrome in an infant with translocation t(5;16).&lt;/strong&gt; Genet. Counsel. 4: 109-112, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8357560/&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;8357560&lt;/a&gt;]" pmid="8357560">Serville et al. (1993)</a>, they suggested that this may be the location of the gene for TBS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8357560" 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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<div>
<a id="molecularGenetics" class="mim-anchor"></a>
<h4 href="#mimMolecularGeneticsFold" id="mimMolecularGeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Molecular Genetics</strong>
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</h4>
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<div id="mimMolecularGeneticsFold" class="collapse in mimTextToggleFold">
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<p>In 2 half-sibs with TBS, born of the same mother, and a sporadic TBS patient, <a href="#15" class="mim-tip-reference" title="Kohlhase, J., Wischermann, A., Reichenbach, H., Froster, U., Engel, W. &lt;strong&gt;Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome.&lt;/strong&gt; Nature Genet. 18: 81-83, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9425907/&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;9425907&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng0198-81&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="9425907">Kohlhase et al. (1998)</a> identified 2 different heterozygous mutations in the SALL1 gene (<a href="/entry/602218#0001">602218.0001</a>; <a href="/entry/602218#0002">602218.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9425907" 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="Powell, C. M., Michaelis, R. C. &lt;strong&gt;Townes-Brocks syndrome.&lt;/strong&gt; J. Med. Genet. 36: 89-93, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10051003/&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;10051003&lt;/a&gt;]" pmid="10051003">Powell and Michaelis (1999)</a> reviewed the clinical features and molecular basis of Townes-Brocks syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10051003" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#14" class="mim-tip-reference" title="Keegan, C. E., Mulliken, J. B., Wu, B.-L., Korf, B. R. &lt;strong&gt;Townes-Brocks syndrome versus expanded spectrum hemifacial microsomia: review of eight patients and further evidence of a &#x27;hot spot&#x27; for mutation in the SALL1 gene.&lt;/strong&gt; Genet. Med. 3: 310-313, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11478532/&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;11478532&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1097/00125817-200107000-00007&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="11478532">Keegan et al. (2001)</a> performed a retrospective analysis of 8 patients with HFM with expanded spectrum (including mandibular hypoplasia, cranial nerve weakness, auricular, vertebral, and ocular anomalies, most commonly epibulbar dermoids) and anal anomalies to determine whether this subset had Townes-Brocks syndrome. Two patients had major phenotypic findings of TBS. Sequencing of the SALL1 gene (<a href="/entry/602218">602218</a>) in 4 of the 8 patients revealed 1 with a C-to-T transition resulting in the nonsense mutation arg276 to ter (<a href="/entry/602218#0003">602218.0003</a>) at a mutation hotspot. <a href="#14" class="mim-tip-reference" title="Keegan, C. E., Mulliken, J. B., Wu, B.-L., Korf, B. R. &lt;strong&gt;Townes-Brocks syndrome versus expanded spectrum hemifacial microsomia: review of eight patients and further evidence of a &#x27;hot spot&#x27; for mutation in the SALL1 gene.&lt;/strong&gt; Genet. Med. 3: 310-313, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11478532/&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;11478532&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1097/00125817-200107000-00007&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="11478532">Keegan et al. (2001)</a> suggested that patients with overlapping features of both Townes-Brock syndrome and hemifacial microsomia-expanded spectrum should be screened for SALL1 mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11478532" 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="#3" class="mim-tip-reference" title="Botzenhart, E. M., Green, A., Ilyina, H., Konig, R., Lowry, R. B., Lo, I. F. M., Shohat, M., Burke, L., McGaughran, J., Chafai, R., Pierquin, G., Michaelis, R. C., Whiteford, M. L., Simola, K. O. J., Rosler, B., Kohlhase, J. &lt;strong&gt;SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype.&lt;/strong&gt; Hum. Mutat. 26: 282, 2005. Note: Electronic Article.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16088922/&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;16088922&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/humu.9362&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="16088922">Botzenhart et al. (2005)</a> stated that 35 mutations had been identified in the SALL1 gene. Most mutations occur 5-prime to or within the region encoding the first double zinc finger. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16088922" 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="#16" class="mim-tip-reference" title="Kosaki, R., Fujimaru, R., Samejima, H., Yamada, H., Izumi, K., Iijima, K., Kosaki, K. &lt;strong&gt;Wide phenotypic variations within a family with SALL1 mutations: isolated external ear abnormalities to Goldenhar syndrome.&lt;/strong&gt; Am. J. Med. Genet. 143A: 1087-1090, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17431915/&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;17431915&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.31700&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="17431915">Kosaki et al. (2007)</a> analyzed the SALL1 gene in 2 sisters, 1 with a Townes-Brocks syndrome phenotype and the other exhibiting features of Goldenhar syndrome (see hemifacial microsomia, <a href="/entry/164210">164210</a>), including epibulbar dermoid, bilateral microtia with atretic ear canals, mandibular hypoplasia, right preaxial polydactyly, anteriorly placed anus, and hypoplastic kidneys. Both sisters were heterozygous for a SALL1 missense mutation (L419X; <a href="/entry/602218#0010">602218.0010</a>), as was their mother, who had dysplastic external ears but was otherwise normal. The authors noted that <a href="#13" class="mim-tip-reference" title="Johnson, J. P., Poskanzer, L. S., Sherman, S. &lt;strong&gt;Three-generation family with resemblance to Townes-Brocks syndrome and Goldenhar/oculoauriculovertebral spectrum.&lt;/strong&gt; Am. J. Med. Genet. 61: 134-139, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8669439/&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;8669439&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(SICI)1096-8628(19960111)61:2&lt;134::AID-AJMG6&gt;3.0.CO;2-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="8669439">Johnson et al. (1996)</a> had previously reported an affected family member with a Goldenhar syndrome-like phenotype in a 3-generation TBS family. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17431915+8669439" 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>Townes-Brocks-Branchiootorenal-Like Syndrome</em></strong></p><p>
In a father and 2 daughters with features overlapping those of Townes-Brocks syndrome and branchiootorenal syndrome (<a href="/entry/113650">113650</a>), <a href="#8" class="mim-tip-reference" title="Engels, S., Kohlase, J., McGaughran, J. &lt;strong&gt;A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype. (Letter)&lt;/strong&gt; J. Med. Genet. 37: 458-460, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10928856/&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;10928856&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.37.6.458&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="10928856">Engels et al. (2000)</a> identified a mutation in the SALL1 gene (<a href="/entry/602218#0007">602218.0007</a>). The daughters had dysplastic ears, hypoplastic kidneys with impaired renal function, gastroesophageal reflux, hypermetropia, and mild developmental delay. The father showed impaired renal function, dysplastic ears, and gastroesophageal reflux. None of the affected family members had anal or hand malformations. <a href="#8" class="mim-tip-reference" title="Engels, S., Kohlase, J., McGaughran, J. &lt;strong&gt;A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype. (Letter)&lt;/strong&gt; J. Med. Genet. 37: 458-460, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10928856/&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;10928856&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.37.6.458&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="10928856">Engels et al. (2000)</a> considered this family to demonstrate phenotypic overlap between the 2 conditions. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10928856" 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 3 members of a nonconsanguineous German family who had only some features of Townes-Brocks syndrome, <a href="#1" class="mim-tip-reference" title="Albrecht, B., Liebers, M., Kohlhase, J. &lt;strong&gt;Atypical phenotype and intrafamilial variability associated with a novel SALL1 mutation. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 125A: 102-104, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14755477/&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;14755477&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.20484&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="14755477">Albrecht et al. (2004)</a> identified a mutation in the SALL1 gene (<a href="/entry/602218#0009">602218.0009</a>). Characteristic features of TBS included preauricular tags, overfolded helices, hypospadias, and impaired renal function; 1 brother had only hypospadias and underriding third toes. None of the affected family members had the characteristic anal or hand malformations of TBS. <a href="#1" class="mim-tip-reference" title="Albrecht, B., Liebers, M., Kohlhase, J. &lt;strong&gt;Atypical phenotype and intrafamilial variability associated with a novel SALL1 mutation. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 125A: 102-104, 2004.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14755477/&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;14755477&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.20484&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="14755477">Albrecht et al. (2004)</a> considered the disorder in their patients to be different from that described by <a href="#8" class="mim-tip-reference" title="Engels, S., Kohlase, J., McGaughran, J. &lt;strong&gt;A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype. (Letter)&lt;/strong&gt; J. Med. Genet. 37: 458-460, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10928856/&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;10928856&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.37.6.458&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="10928856">Engels et al. (2000)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14755477+10928856" 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="#11" class="mim-tip-reference" title="Furniss, D., Critchley, P., Giele, H., Wilkie, A. O. M. &lt;strong&gt;Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3.&lt;/strong&gt; Am. J. Med. Genet. 143A: 3150-3160, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18000979/&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;18000979&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.32097&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="18000979">Furniss et al. (2007)</a> reported a heterozygous mutation in the SALL1 gene (995delC; <a href="/entry/602218#0011">602218.0011</a>) in a patient with a relatively severe form of Townes-Brocks syndrome. The patient had bilateral preaxial polydactyly, imperforate anus, rectal atresia, hypospadias, and overfolded helices. The mutation was found to be resistant to nonsense-mediated decay. <a href="#11" class="mim-tip-reference" title="Furniss, D., Critchley, P., Giele, H., Wilkie, A. O. M. &lt;strong&gt;Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3.&lt;/strong&gt; Am. J. Med. Genet. 143A: 3150-3160, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18000979/&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;18000979&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.32097&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="18000979">Furniss et al. (2007)</a> concluded that the phenotype was caused by a truncated SALL1 protein acting in a dominant-negative manner. These findings were in contrast to another SALL1 mutation (<a href="/entry/602218#0012">602218.0012</a>) that did undergo nonsense-mediated decay and was associated with a milder phenotype of Townes-Brocks syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18000979" 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="#Pinsky1977" class="mim-tip-reference" title="Pinsky, L. &lt;strong&gt;More on anal deformities. (Letter)&lt;/strong&gt; J. Pediat. 90: 330, 1977.">Pinsky (1977)</a>; <a href="#Reid1977" class="mim-tip-reference" title="Reid, I. S., Turner, G. &lt;strong&gt;More on anal deformities. (Letter)&lt;/strong&gt; J. Pediat. 90: 331, 1977.">Reid and Turner (1977)</a>; <a href="#Townes1977" class="mim-tip-reference" title="Townes, P. L. &lt;strong&gt;More on anal deformities. (Letter)&lt;/strong&gt; J. Pediat. 90: 329-330, 1977.">Townes (1977)</a>
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Albrecht, B., Liebers, M., Kohlhase, J.
<strong>Atypical phenotype and intrafamilial variability associated with a novel SALL1 mutation. (Letter)</strong>
Am. J. Med. Genet. 125A: 102-104, 2004.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14755477/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14755477</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14755477" 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.20484" target="_blank">Full Text</a>]
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Aylsworth, A. S.
<strong>The Townes-Brocks syndrome: a member of the anus-hand-ear family of syndromes. (Abstract)</strong>
Am. J. Hum. Genet. 37: A43, 1985.
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<a id="3" class="mim-anchor"></a>
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[<a href="https://doi.org/10.1002/humu.9362" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2017.12.017" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320410102" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1988.tb02862.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.37.6.458" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.32097" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320610203" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/(SICI)1096-8628(19960111)61:2&lt;134::AID-AJMG6&gt;3.0.CO;2-X" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1097/00125817-200107000-00007" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/ng0198-81" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.31700" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(78)80518-6" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320180118" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.27.7.457" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(76)81061-x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(77)80683-5" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archpedi.1972.02110180113017" target="_blank">Full Text</a>]
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J. Hum. Genet. 55: 550-551, 2010.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20520617/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20520617</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20520617" 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/jhg.2010.64" target="_blank">Full Text</a>]
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<a id="Surka2001" class="mim-anchor"></a>
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Surka, W. S., Kohlhase, J., Neunert, C. E., Schneider, D. S., Proud, V. K.
<strong>Unique family with Townes-Brocks syndrome, SALL1 mutation, and cardiac defects.</strong>
Am. J. Med. Genet. 102: 250-257, 2001.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11484202/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11484202</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11484202" 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(20010815)102:3&lt;250::aid-ajmg1479&gt;3.0.co;2-q" target="_blank">Full Text</a>]
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<a id="Townes1972" class="mim-anchor"></a>
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Townes, P. L., Brocks, E. R.
<strong>Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies.</strong>
J. Pediat. 81: 321-326, 1972.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5042490/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5042490</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5042490" 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/s0022-3476(72)80302-0" target="_blank">Full Text</a>]
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<a id="Townes1977" class="mim-anchor"></a>
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Townes, P. L.
<strong>More on anal deformities. (Letter)</strong>
J. Pediat. 90: 329-330, 1977.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/830935/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">830935</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=830935" 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/s0022-3476(77)80680-x" target="_blank">Full Text</a>]
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<a id="Walpole1982" class="mim-anchor"></a>
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Walpole, I. R., Hockey, A.
<strong>Syndrome of imperforate anus, abnormalities of hands and feet, satyr ears, and sensorineural defects.</strong>
J. Pediat. 100: 250-252, 1982.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7199082/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7199082</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7199082" 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/s0022-3476(82)80649-5" target="_blank">Full Text</a>]
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<a id="Webb2017" class="mim-anchor"></a>
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Webb, B. D., Metikala, S., Wheeler, P. G., Sherpa, M. D., Houten, S. M., Horb, M. E., Schadt, E. E.
<strong>Heterozygous pathogenic variant in DACT1 causes an autosomal-dominant syndrome with features overlapping Townes-Brocks syndrome.</strong>
Hum. Mutat. 38: 373-377, 2017.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28054444/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28054444</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=28054444[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=28054444" 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/humu.23171" target="_blank">Full Text</a>]
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Ada Hamosh - updated : 06/19/2018
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Marla J. F. O'Neill - updated : 2/23/2011<br>Cassandra L. Kniffin - updated : 1/12/2009<br>Marla J. F. O'Neill - updated : 2/1/2008<br>Cassandra L. Kniffin - updated : 1/3/2006<br>Marla J. F. O'Neill - updated : 5/18/2004<br>Victor A. McKusick - updated : 8/27/2001<br>Michael J. Wright - updated : 7/27/2001<br>Victor A. McKusick - updated : 2/4/2000<br>Michael J. Wright - updated : 8/13/1999<br>Victor A. McKusick - updated : 12/29/1997<br>Victor A. McKusick - updated : 2/6/1997
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Victor A. McKusick : 6/4/1986
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alopez : 02/25/2022
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<h3>
<span class="mim-font">
<strong>#</strong> 107480
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TOWNES-BROCKS SYNDROME 1; TBS1
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<em>Alternative titles; symbols</em>
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RENAL-EAR-ANAL-RADIAL SYNDROME<br />
REAR SYNDROME<br />
ANUS, IMPERFORATE, WITH HAND, FOOT, AND EAR ANOMALIES<br />
DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIES
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Other entities represented in this entry:
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TOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME, INCLUDED
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<strong>SNOMEDCT:</strong> 24750000; &nbsp;
<strong>ORPHA:</strong> 857; &nbsp;
<strong>DO:</strong> 0050887; &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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16q12.1
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<span class="mim-font">
Townes-Brocks branchiootorenal-like syndrome
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107480
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Autosomal dominant
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3
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SALL1
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602218
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16q12.1
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Townes-Brocks syndrome 1
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107480
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Autosomal dominant
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3
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SALL1
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602218
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that Townes-Brocks syndrome-1 (TBS1) is caused by heterozygous mutation in the gene encoding the SALL1 putative transcription factor (602218) on chromosome 16q12.</p><p>There is also evidence that a Townes-Brocks-branchiootorenal-like syndrome is caused by heterozygous mutation in the SALL1 gene.</p>
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<strong>Description</strong>
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<p>Townes-Brocks syndrome-1 (TBS1) is characterized by the triad of imperforate anus, dysplastic ears, and thumb malformations. Minor features of the condition include hearing loss, foot malformations, renal impairment with or without renal malformations, genitourinary malformations, and congenital heart disease (Webb et al., 2017). </p><p><strong><em>Genetic Heterogeneity of Townes-Brocks Syndrome</em></strong></p><p>
Townes-Brocks syndrome-2 (TBS2; 617466) is caused by mutation in the DACT1 gene (607861) on chromosome 14q23.</p>
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<strong>Clinical Features</strong>
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<p>Townes and Brocks (1972) observed a father and 5 of his 7 children who had imperforate anus, triphalangeal thumbs, and other anomalies of the hands and feet, including fusion of metatarsals, absent bones, and supernumerary thumbs. Other features included mild sensorineural deafness, and lop ears. Reid and Turner (1976) described the same syndrome. </p><p>Kurnit et al. (1978) described autosomal dominant inheritance of a syndrome of anal stenosis, other anal abnormalities, deformed external ears and perceptive deafness, renal anomalies, including hypoplastic kidney, and radial dysplasia (REAR syndrome). The features are those of the VATER syndrome (192350), which has been subsequently expanded into the VACTERL syndrome (acronym for vertebral anomalies, anal atresia, congenital cardiac disease, tracheoesophageal fistula, renal anomalies, radial dysplasia, and other limb defects). </p><p>Walpole and Hockey (1982) reported cases. Monteiro de Pina-Neto (1984) reported a case in which congenital heart defect was also present and proposed that the cases of Silver et al. (1972) were instances of this syndrome rather than the Holt-Oram syndrome (142900). </p><p>Aylsworth (1985) observed the Townes-Brocks syndrome in a mother and 2 children. De Vries-Van der Weerd et al. (1988) described TBS in a father and son. The son, the proband, showed the full spectrum of anomalies, including imperforate anus, prominent perineal raphe, rectoperineal fistula, triphalangeal thumb, preaxial hexadactyly, syndactyly, clinodactyly, preauricular protuberances, hypoplastic 'satyr' ears, sensorineural hearing loss, and urorenal anomalies. In contrast, the father showed only limb anomalies, sensorineural hearing loss, and renal anomalies. Anorectal malformations, which are present in most patients with TBS, were absent in the father. </p><p>Ferraz et al. (1989) reported a sporadic case. The patient's 'satyr ear' and CT scans of the deformities in the ossicles of the ear were pictured. The cardiac lesion was ventricular septal defect. At birth the girl had been noted to have type I imperforate anus with rectovaginal fistula, bilateral supernumerary digits on the radial side of the thumb base, and incomplete soft tissue syndactyly between fingers 2 and 3 on the right. Bilateral symmetric mixed deafness was discovered at age 6 years. The maternal grandfather may have been affected, since he had deafness, polycystic kidneys, and a short proximal phalanx of the left fifth finger. </p><p>In a review of the Townes-Brocks syndrome, O'Callaghan and Young (1990) pointed out that patients may have a prominent midline perineal raphe extending from the site of the anal orifice to the scrotum. They pictured the feet of a mother and son, both showing hypoplastic third toes overlapped by the second and fourth toes, as well as a 'satyr' form of lopped ear. </p><p>Cameron et al. (1991) suggested that there may be an increase of mental retardation in persons with TBS. Ishikiriyama et al. (1996) also saw a boy with both TBS and mental retardation. </p><p>Serville et al. (1993) listed the main features of TBS as follows: abnormal placement of the anus, anal atresia or stenosis; auricular pits, fistulas, or tags; conductive and sensorineural deafness; dysplastic ears; hypoplastic or bifid thumbs; deviation of distal phalanges of the thumbs; triphalangeal thumbs; and cardiac and renal abnormalities. They noted that neither of the patients reported by Friedman et al. (1987) had thumb anomalies, but pointed to the fact that clinical variability is known in TBS. </p><p>Johnson et al. (1996) described a 3-generation family in which the grandmother and mother were thought to have Goldenhar syndrome (164210), but the birth of a grandson with typical features of TBS redirected the diagnosis to that possibility. The mother was of short stature with small ears, preauricular and tragal tags on the right and postauricular tag on the left, facial asymmetry, epibulbar dermoids bilaterally, micrognathia, and macrostomia with lateral extension more prominent on the right. The thumbs were triphalangeal with a previously removed, rudimentary, supernumerary digit that had been attached to the right thumb. Midline clefting of the uterus was reported. The anus was normal. The IQ at age 10 was 84; microcephaly was noted at the age of 24 years. The grandmother had small ears with preauricular tags, epibulbar dermoid on the right, and micrognathia without facial asymmetry. The thumbs were triphalangeal and the great toe on the left was bifid representing syndactyly of toes 1 and 2 or absence of 2. Genitourinary abnormalities included urethrostenosis and septate uterus. The anus showed redundant skin. Height was 147 cm. The grandson was born with an imperforate anus covered by a thin membrane requiring a minor surgical procedure. The left side of the face was smaller than the right. The ears were small with overfolding of the helix more prominent on the right which showed a small preauricular tag. Other findings were epibulbar dermoid on the left, triphalangeal thumbs with ulnar deviation. </p><p>Newman et al. (1997) reported a case of Townes-Brock syndrome in a male who presented at the age of 23 years with end-stage renal failure. He had severe hypertension and bilaterally small kidneys by ultrasound scan. Surgery had been performed after birth to correct anal stenosis. At that time the ears were noted to be low set with overfolded helices and bilateral preauricular tags, bilateral preaxial hexadactyly of the hands, and syndactyly of the third and fourth toes. Bilateral sensorineural deafness was noted at 3 years of age. </p><p>Kohlhase et al. (1998) reported 2 half-sibs with TBS, born of the same mother. Photographs illustrated the presence of duplicated triphalangeal left thumb and duplicated triphalangeal right thumb combined with a third dysplastic thumb. Dysplastic ears were also illustrated. The affected mother displayed low birth weight and presented with imperforate anus, preauricular tags, microtia and dysplastic ears, sensorineural hearing loss, bifid right thumb, and rudimentary bifid left thumb. Her son had imperforate anus type 3 with rectoperineal fistula, microtia and dysplastic ears, sensorineural hearing loss, bifid left and distally broadened right thumb. His sister likewise showed imperforate anus type 3 with rectovaginal fistula, preauricular tags, microtia and dysplastic ears, sensorineural hearing loss, bifid triphalangeal left thumb, and triple triphalangeal right thumb. </p><p>Doray et al. (1999) described 2 unrelated, apparently sporadic cases of Townes-Brocks syndrome. </p><p>Surka et al. (2001) described a 3-generation family in which 7 individuals had TBS confirmed by genetic analysis (602218.0008). Cardiac anomalies seen in this family included lethal truncus arteriosus in 1 patient and a lethal complicated defect that included pulmonary valve atresia in a second. These severe cardiac anomalies had not previously been reported in a familial case of TBS. On the basis of this family and a review of the literature, Surka et al. (2001) suggested that cardiac evaluation is warranted in all patients with this disorder. The authors stated that hypoplastic thumbs were observed in 2 individuals in their family and therefore should be considered a feature of TBS. In fact, the thumb anomalies as indicated by the photographs were bilateral triphalangeal thumbs in at least 2 individuals, a right hypoplastic thumb with absent distal phalanx and left preaxial polydactyly and triphalangeal thumb in one, and left preaxial polydactyly and triphalangeal thumb in another. A severely affected child who died at the age of 3 days from cardiac malformations had bilateral preaxial polydactyly. </p><p>Botzenhart et al. (2005) reported 13 unrelated families with TBS confirmed by genetic analysis. Rare phenotypic features included hypothyroidism, gastroesophageal reflux, vaginal aplasia with bifid uterus, cryptorchidism, bifid scrotum without hypospadia scrotalis, unilateral chorioretinal coloboma with loss of vision, Duane anomaly, dorsal hypoplasia of the corpus callosum, and umbilical hernia. </p><p>Sudo et al. (2010) reported a Japanese family in which the 4-year-old female proband had bilateral preauricular tags, bilateral preaxial polydactyly, syndactyly of the right toe, overriding toes of the left foot, anteriorly placed and stenosed anus, mild bilateral sensorineural hearing loss, ventricular septal defect, and small right kidney. Her mother and her maternal uncle, grandfather, and great aunt were also affected. Her mother had right preaxial polydactyly, anterior placement of the anus, small right kidney, and mild sensorineural hearing loss, whereas her uncle had right preaxial polydactyly, imperforate anus, and mild hearing loss. Her grandfather and great aunt had only unilateral preaxial polydactyly and deafness. The proband and her mother were found to be heterozygous for a frameshift mutation in the SALL1 gene. Sudo et al. (2010) noted that there was an anticipation-like increase in severity of the phenotype with each succeeding generation in this family, and stated that similar increases in clinical severity had been observed in other TBS families, frequently in patients who inherited the disease from their mothers. </p>
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<strong>Inheritance</strong>
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<p>Autosomal dominant inheritance of TBS is well established, with multiple cases of male-to-male transmission reported by Townes and Brocks (1972), Reid and Turner (1976), Kurnit et al. (1978) and de Vries-Van der Weerd et al. (1988). </p>
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<strong>Pathogenesis</strong>
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<p>Bozal-Basterra et al. (2018) showed that TBS-derived primary fibroblasts exhibit changes in SALL1 localization, a higher rate of ciliogenesis, abnormally elongated cilia, aberrant cilia disassembly, and SHH signaling defects. Through proximity proteomics, Bozal-Basterra et al. (2018) identified 2 main ciliogenesis suppressors, CCP110 (609544) and CEP97 (615864), as interactors of TBS-causing truncated SALL1. The higher rate of ciliogenesis detected in TBS-derived primary fibroblasts is consistent with an observed lower amount of CCP110 and CEP97 at the mother centriole in these fibroblasts compared with controls. The authors noted that truncated SALL1, alone or with full-length SALL1, sequesters CCP110 and CEP97, disrupting cilia formation and function. Bozal-Basterra et al. (2018) concluded that TBS might be considered a ciliopathy. </p>
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<strong>Cytogenetics</strong>
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<p>Serville et al. (1993) described TBS in an infant with a 2-break reciprocal translocation between chromosomes 5 and 16. They noted that Friedman et al. (1987) described father and daughter with this syndrome associated with a pericentric inversion of chromosome 16 with breakpoints at p11.2 and q12.1. Since 16p12.1 was the location of 1 of the breakpoints in the patient reported by Serville et al. (1993), they suggested that this may be the location of the gene for TBS. </p>
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<strong>Molecular Genetics</strong>
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<span class="mim-text-font">
<p>In 2 half-sibs with TBS, born of the same mother, and a sporadic TBS patient, Kohlhase et al. (1998) identified 2 different heterozygous mutations in the SALL1 gene (602218.0001; 602218.0002). </p><p>Powell and Michaelis (1999) reviewed the clinical features and molecular basis of Townes-Brocks syndrome. </p><p>Keegan et al. (2001) performed a retrospective analysis of 8 patients with HFM with expanded spectrum (including mandibular hypoplasia, cranial nerve weakness, auricular, vertebral, and ocular anomalies, most commonly epibulbar dermoids) and anal anomalies to determine whether this subset had Townes-Brocks syndrome. Two patients had major phenotypic findings of TBS. Sequencing of the SALL1 gene (602218) in 4 of the 8 patients revealed 1 with a C-to-T transition resulting in the nonsense mutation arg276 to ter (602218.0003) at a mutation hotspot. Keegan et al. (2001) suggested that patients with overlapping features of both Townes-Brock syndrome and hemifacial microsomia-expanded spectrum should be screened for SALL1 mutations. </p><p>Botzenhart et al. (2005) stated that 35 mutations had been identified in the SALL1 gene. Most mutations occur 5-prime to or within the region encoding the first double zinc finger. </p><p>Kosaki et al. (2007) analyzed the SALL1 gene in 2 sisters, 1 with a Townes-Brocks syndrome phenotype and the other exhibiting features of Goldenhar syndrome (see hemifacial microsomia, 164210), including epibulbar dermoid, bilateral microtia with atretic ear canals, mandibular hypoplasia, right preaxial polydactyly, anteriorly placed anus, and hypoplastic kidneys. Both sisters were heterozygous for a SALL1 missense mutation (L419X; 602218.0010), as was their mother, who had dysplastic external ears but was otherwise normal. The authors noted that Johnson et al. (1996) had previously reported an affected family member with a Goldenhar syndrome-like phenotype in a 3-generation TBS family. </p><p><strong><em>Townes-Brocks-Branchiootorenal-Like Syndrome</em></strong></p><p>
In a father and 2 daughters with features overlapping those of Townes-Brocks syndrome and branchiootorenal syndrome (113650), Engels et al. (2000) identified a mutation in the SALL1 gene (602218.0007). The daughters had dysplastic ears, hypoplastic kidneys with impaired renal function, gastroesophageal reflux, hypermetropia, and mild developmental delay. The father showed impaired renal function, dysplastic ears, and gastroesophageal reflux. None of the affected family members had anal or hand malformations. Engels et al. (2000) considered this family to demonstrate phenotypic overlap between the 2 conditions. </p><p>In 3 members of a nonconsanguineous German family who had only some features of Townes-Brocks syndrome, Albrecht et al. (2004) identified a mutation in the SALL1 gene (602218.0009). Characteristic features of TBS included preauricular tags, overfolded helices, hypospadias, and impaired renal function; 1 brother had only hypospadias and underriding third toes. None of the affected family members had the characteristic anal or hand malformations of TBS. Albrecht et al. (2004) considered the disorder in their patients to be different from that described by Engels et al. (2000). </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Genotype/Phenotype Correlations</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Furniss et al. (2007) reported a heterozygous mutation in the SALL1 gene (995delC; 602218.0011) in a patient with a relatively severe form of Townes-Brocks syndrome. The patient had bilateral preaxial polydactyly, imperforate anus, rectal atresia, hypospadias, and overfolded helices. The mutation was found to be resistant to nonsense-mediated decay. Furniss et al. (2007) concluded that the phenotype was caused by a truncated SALL1 protein acting in a dominant-negative manner. These findings were in contrast to another SALL1 mutation (602218.0012) that did undergo nonsense-mediated decay and was associated with a milder phenotype of Townes-Brocks syndrome. </p>
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>See Also:</strong>
</span>
</h4>
<span class="mim-text-font">
Pinsky (1977); Reid and Turner (1977); Townes (1977)
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div>
<ol>
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Albrecht, B., Liebers, M., Kohlhase, J.
<strong>Atypical phenotype and intrafamilial variability associated with a novel SALL1 mutation. (Letter)</strong>
Am. J. Med. Genet. 125A: 102-104, 2004.
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[Full Text: https://doi.org/10.1002/ajmg.a.20484]
</p>
</li>
<li>
<p class="mim-text-font">
Aylsworth, A. S.
<strong>The Townes-Brocks syndrome: a member of the anus-hand-ear family of syndromes. (Abstract)</strong>
Am. J. Hum. Genet. 37: A43, 1985.
</p>
</li>
<li>
<p class="mim-text-font">
Botzenhart, E. M., Green, A., Ilyina, H., Konig, R., Lowry, R. B., Lo, I. F. M., Shohat, M., Burke, L., McGaughran, J., Chafai, R., Pierquin, G., Michaelis, R. C., Whiteford, M. L., Simola, K. O. J., Rosler, B., Kohlhase, J.
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Hum. Mutat. 26: 282, 2005. Note: Electronic Article.
[PubMed: 16088922]
[Full Text: https://doi.org/10.1002/humu.9362]
</p>
</li>
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<p class="mim-text-font">
Bozal-Basterra, L., Martin-Ruiz, I., Pirone, L., Liang, Y., Sigurosson, J. O., Gonzalez-Santamarta, M., Giordano, I., Gabicagogeascoa, E., de Luca, A., Rodriguez, J. A., Wilkie, A. O. M., Kohlhase, J., Eastwood, D., Yale, C., Olsen, J. V., Rauchman, M., Anderson, K. V., Sutherland, J. D., Barrio, R.
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</p>
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</p>
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</p>
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<p class="mim-text-font">
Engels, S., Kohlase, J., McGaughran, J.
<strong>A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype. (Letter)</strong>
J. Med. Genet. 37: 458-460, 2000.
[PubMed: 10928856]
[Full Text: https://doi.org/10.1136/jmg.37.6.458]
</p>
</li>
<li>
<p class="mim-text-font">
Ferraz, F. G., Nunes, L., Ferraz, M. E., Sousa, J. P., Santos, M., Carvalho, C., Maroteaux, P.
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[PubMed: 2667456]
</p>
</li>
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Friedman, P. A., Rao, K. W., Aylsworth, A. S.
<strong>Six patients with the Townes-Brocks syndrome including five familial cases and an association with a pericentric inversion of chromosome 16. (Abstract)</strong>
Am. J. Hum. Genet. 41 (suppl.): A60, 1987.
</p>
</li>
<li>
<p class="mim-text-font">
Furniss, D., Critchley, P., Giele, H., Wilkie, A. O. M.
<strong>Nonsense-mediated decay and the molecular pathogenesis of mutations in SALL1 and GLI3.</strong>
Am. J. Med. Genet. 143A: 3150-3160, 2007.
[PubMed: 18000979]
[Full Text: https://doi.org/10.1002/ajmg.a.32097]
</p>
</li>
<li>
<p class="mim-text-font">
Ishikiriyama, S., Kudoh, F., Shimojo, N., Iwai, J., Inoue, T.
<strong>Townes-Brocks syndrome associated with mental retardation. (Letter)</strong>
Am. J. Med. Genet. 61: 191-192, 1996.
[PubMed: 8669452]
[Full Text: https://doi.org/10.1002/ajmg.1320610203]
</p>
</li>
<li>
<p class="mim-text-font">
Johnson, J. P., Poskanzer, L. S., Sherman, S.
<strong>Three-generation family with resemblance to Townes-Brocks syndrome and Goldenhar/oculoauriculovertebral spectrum.</strong>
Am. J. Med. Genet. 61: 134-139, 1996.
[PubMed: 8669439]
[Full Text: https://doi.org/10.1002/(SICI)1096-8628(19960111)61:2&lt;134::AID-AJMG6&gt;3.0.CO;2-X]
</p>
</li>
<li>
<p class="mim-text-font">
Keegan, C. E., Mulliken, J. B., Wu, B.-L., Korf, B. R.
<strong>Townes-Brocks syndrome versus expanded spectrum hemifacial microsomia: review of eight patients and further evidence of a &#x27;hot spot&#x27; for mutation in the SALL1 gene.</strong>
Genet. Med. 3: 310-313, 2001.
[PubMed: 11478532]
[Full Text: https://doi.org/10.1097/00125817-200107000-00007]
</p>
</li>
<li>
<p class="mim-text-font">
Kohlhase, J., Wischermann, A., Reichenbach, H., Froster, U., Engel, W.
<strong>Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome.</strong>
Nature Genet. 18: 81-83, 1998.
[PubMed: 9425907]
[Full Text: https://doi.org/10.1038/ng0198-81]
</p>
</li>
<li>
<p class="mim-text-font">
Kosaki, R., Fujimaru, R., Samejima, H., Yamada, H., Izumi, K., Iijima, K., Kosaki, K.
<strong>Wide phenotypic variations within a family with SALL1 mutations: isolated external ear abnormalities to Goldenhar syndrome.</strong>
Am. J. Med. Genet. 143A: 1087-1090, 2007.
[PubMed: 17431915]
[Full Text: https://doi.org/10.1002/ajmg.a.31700]
</p>
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<p class="mim-text-font">
Kurnit, D. M., Steele, M. W., Pinsky, L., Dibbins, A.
<strong>Autosomal dominant transmission of a syndrome of anal, ear, renal, and radial congenital malformations.</strong>
J. Pediat. 93: 270-273, 1978.
[PubMed: 671168]
[Full Text: https://doi.org/10.1016/s0022-3476(78)80518-6]
</p>
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Monteiro de Pina-Neto, J.
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Am. J. Med. Genet. 18: 147-152, 1984.
[PubMed: 6741990]
[Full Text: https://doi.org/10.1002/ajmg.1320180118]
</p>
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Newman, W. G., Brunet, M. D., Donnai, D.
<strong>Townes-Brocks syndrome presenting as end stage renal failure.</strong>
Clin. Dysmorph. 6: 57-60, 1997.
[PubMed: 9072124]
</p>
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<p class="mim-text-font">
O'Callaghan, M., Young, I. D.
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J. Med. Genet. 27: 457-461, 1990.
[PubMed: 2395165]
[Full Text: https://doi.org/10.1136/jmg.27.7.457]
</p>
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<p class="mim-text-font">
Pinsky, L.
<strong>More on anal deformities. (Letter)</strong>
J. Pediat. 90: 330, 1977.
</p>
</li>
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<p class="mim-text-font">
Powell, C. M., Michaelis, R. C.
<strong>Townes-Brocks syndrome.</strong>
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[PubMed: 10051003]
</p>
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<p class="mim-text-font">
Reid, I. S., Turner, G.
<strong>Familial anal abnormality.</strong>
J. Pediat. 88: 992-994, 1976.
[PubMed: 1271203]
[Full Text: https://doi.org/10.1016/s0022-3476(76)81061-x]
</p>
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Reid, I. S., Turner, G.
<strong>More on anal deformities. (Letter)</strong>
J. Pediat. 90: 331, 1977.
[PubMed: 830936]
[Full Text: https://doi.org/10.1016/s0022-3476(77)80683-5]
</p>
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<p class="mim-text-font">
Serville, F., Lacombe, D., Saura, R., Billeaud, C., Sergent, M. P.
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[PubMed: 8357560]
</p>
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<p class="mim-text-font">
Silver, W., Steier, M., Schwartz, O., Zeichner, M. B.
<strong>The Holt-Oram syndrome with previously undescribed associated anomalies.</strong>
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[PubMed: 4639228]
[Full Text: https://doi.org/10.1001/archpedi.1972.02110180113017]
</p>
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Sudo, Y., Numakura, C., Abe, A., Aiba, S., Matsunaga, A., Hayasaka, K.
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[PubMed: 20520617]
[Full Text: https://doi.org/10.1038/jhg.2010.64]
</p>
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<p class="mim-text-font">
Surka, W. S., Kohlhase, J., Neunert, C. E., Schneider, D. S., Proud, V. K.
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[PubMed: 11484202]
[Full Text: https://doi.org/10.1002/1096-8628(20010815)102:3&lt;250::aid-ajmg1479&gt;3.0.co;2-q]
</p>
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<li>
<p class="mim-text-font">
Townes, P. L., Brocks, E. R.
<strong>Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies.</strong>
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[PubMed: 5042490]
[Full Text: https://doi.org/10.1016/s0022-3476(72)80302-0]
</p>
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Townes, P. L.
<strong>More on anal deformities. (Letter)</strong>
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[PubMed: 830935]
[Full Text: https://doi.org/10.1016/s0022-3476(77)80680-x]
</p>
</li>
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<p class="mim-text-font">
Walpole, I. R., Hockey, A.
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[PubMed: 7199082]
[Full Text: https://doi.org/10.1016/s0022-3476(82)80649-5]
</p>
</li>
<li>
<p class="mim-text-font">
Webb, B. D., Metikala, S., Wheeler, P. G., Sherpa, M. D., Houten, S. M., Horb, M. E., Schadt, E. E.
<strong>Heterozygous pathogenic variant in DACT1 causes an autosomal-dominant syndrome with features overlapping Townes-Brocks syndrome.</strong>
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[PubMed: 28054444]
[Full Text: https://doi.org/10.1002/humu.23171]
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Ada Hamosh - updated : 06/19/2018<br>Marla J. F. O&#x27;Neill - updated : 2/23/2011<br>Cassandra L. Kniffin - updated : 1/12/2009<br>Marla J. F. O&#x27;Neill - updated : 2/1/2008<br>Cassandra L. Kniffin - updated : 1/3/2006<br>Marla J. F. O&#x27;Neill - updated : 5/18/2004<br>Victor A. McKusick - updated : 8/27/2001<br>Michael J. Wright - updated : 7/27/2001<br>Victor A. McKusick - updated : 2/4/2000<br>Michael J. Wright - updated : 8/13/1999<br>Victor A. McKusick - updated : 12/29/1997<br>Victor A. McKusick - updated : 2/6/1997
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