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<title>
Entry
- #166780 - OTOFACIOCERVICAL SYNDROME 1; OTFCS
- OMIM
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<span class="h4">#166780</span>
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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/166780"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS166780"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#clinicalFeatures">Clinical Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#molecularGenetics">Molecular Genetics</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 id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9660;</div>
&nbsp;
<div style="display: table-cell;">Clinical Resources</div>
</div>
</a>
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</span>
</div>
<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
<div class="panel-body small mim-panel-body">
<div><a href="https://clinicaltrials.gov/search?cond=(OTOFACIOCERVICAL SYNDROME) OR (EYA1)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=2540&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
<div><a href="https://www.diseaseinfosearch.org/x/5498" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=166780[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2792" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/b8fdfb36-0f0a-487e-9f69-9f3381b0e247/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
</div>
</div>
</div>
</div>
</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;
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<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>ORPHA:</strong> 2792<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>
166780
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
OTOFACIOCERVICAL SYNDROME 1; OTFCS
</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">
OFC; OFC1
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/335?start=-3&limit=10&highlight=335">
8q13.3
</a>
</span>
</td>
<td>
<span class="mim-font">
?Otofaciocervical syndrome
<span class="mim-tip-hint" title="A question mark (?) indicates that the relationship between the phenotype and gene is provisional">
<span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span>
</span>
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/166780"> 166780 </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">
EYA1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601653"> 601653 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/166780" 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')">
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<span class="sr-only">Toggle Dropdown</span>
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&nbsp;
<div class="btn-group">
<a href="/phenotypicSeries/PS166780" class="btn btn-info" role="button"> Phenotypic Series </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
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<span class="sr-only">Toggle Dropdown</span>
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&nbsp;
<div class="btn-group">
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
PheneGene Graphics <span class="caret"></span>
</button>
<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/166780" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/166780" 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> Face </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Narrow face <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837463&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837463</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000275" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000275</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000275" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000275</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=fd3adb6693ceb0e1b63fd87b5b56b315" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Face,Narrow-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=fd3adb6693ceb0e1b63fd87b5b56b315&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 /> -
Long face <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836047&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836047</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000276" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000276</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000276" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000276</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=729bf273c6a346c2f07ab0965824ffb2" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Face,Long-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=729bf273c6a346c2f07ab0965824ffb2&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">
- Hearing loss, conductive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/44057004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">44057004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H90.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H90.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/389.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/389.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">389.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018777&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018777</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000405" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000405</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000405" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000405</a>]</span><br /> -
Dilated inner ear canals <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5232280&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5232280</a>]</span><br /> -
Reduced labyrinth <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5435600&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5435600</a>]</span><br /> -
Cochlear malformation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862050&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862050</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008554" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008554</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008554" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008554</a>]</span><br /> -
Prominent ears <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/275478007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">275478007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q17.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q17.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1305420&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1305420</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000411" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000411</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000411" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000411</a>]</span><br /> -
Cupped ears <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845447&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845447</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000378" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000378</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000378" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000378</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=11e133b247a1693a43bc091f867a7615" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Ear,Cupped-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=11e133b247a1693a43bc091f867a7615&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 /> -
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 />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Mouth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- High-arched palate <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/27272007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">27272007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q38.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q38.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240635&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240635</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000218" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000218</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000218" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000218</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> CHEST </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Ribs Sternum Clavicles & Scapulae </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Sloping shoulders <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856872&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856872</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0200021" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0200021</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0200021" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0200021</a>]</span><br /> -
Low-set clavicles <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5232275&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5232275</a>]</span><br /> -
Diastasis of the right sternoclavicular joint <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5232276&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5232276</a>]</span><br />
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<strong> GENITOURINARY </strong>
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<strong> MUSCLE, SOFT TISSUES </strong>
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- Trapezius hypoplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5232274&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5232274</a>]</span><br />
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<strong> MISCELLANEOUS </strong>
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- Caused by a contiguous gene deletion involving the EYA1 gene (<a href="/entry/601653">601653</a>)<br /> -
One patient has been reported with a heterozygous mutation in EYA1<br />
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<strong> MOLECULAR BASIS </strong>
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- Caused by mutation in the EYA transcriptional coactivator and phosphatase 1 gene (EYA1, <a href="/entry/601653#0014">601653.0014</a>)<br />
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<h5>
Otofaciocervical syndrome
- <a href="/phenotypicSeries/PS166780">PS166780</a>
- 2 Entries
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<strong>Phenotype</strong>
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<strong>Inheritance</strong>
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<a href="/geneMap/8/335?start=-3&limit=10&highlight=335"> 8q13.3 </a>
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<a href="/entry/166780"> ?Otofaciocervical 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/166780"> 166780 </a>
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<a href="/entry/601653"> EYA1 </a>
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<a href="/entry/601653"> 601653 </a>
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<a href="/geneMap/20/141?start=-3&limit=10&highlight=141"> 20p11.22 </a>
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<a href="/entry/615560"> Otofaciocervical syndrome 2 with T-cell deficiency </a>
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/615560"> 615560 </a>
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<a href="/entry/167411"> PAX1 </a>
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<a href="/entry/167411"> 167411 </a>
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that otofaciocervical syndrome-1 (OTFCS1) is caused by a contiguous gene deletion involving the EYA1 gene (<a href="/entry/601653">601653</a>). One patient has been reported with a heterozygous mutation in the EYA1 gene.</p>
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<strong>Description</strong>
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<p>Otofaciocervical syndrome (OTFCS) is a rare disorder characterized by facial anomalies, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal anomalies including vertebral defects, low-set clavicles, winged scapulae, sloping shoulders, and mild intellectual disability (summary by <a href="#5" class="mim-tip-reference" title="Pohl, E., Aykut, A., Beleggia, F., Karaca, E., Durmaz, B., Keupp, K., Arslan, E., Palamar, M., Yigit, G., Ozkinay, F., Wollnik, B. &lt;strong&gt;A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome.&lt;/strong&gt; Hum. Genet. 132: 1311-1320, 2013. Note: Erratum: Hum. Genet. 132: 1321 only, 2013.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/23851939/&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;23851939&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s00439-013-1337-9&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="23851939">Pohl et al., 2013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23851939" 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 Otofaciocervical Syndrome</em></strong></p><p>
OTFCS2 (<a href="/entry/615560">615560</a>) is caused by mutation in the PAX1 gene (<a href="/entry/167411">167411</a>) on chromosome 20p11.</p>
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<p>Otofaciocervical syndrome was described by <a href="#3" class="mim-tip-reference" title="Fara, M., Chlupackova, V., Hrivnakova, J. &lt;strong&gt;Dismorphia oto-facio-cervicalis familiaris.&lt;/strong&gt; Acta Chir. Plast. 9: 255-268, 1967."None>Fara et al. (1967)</a> in a man and 4 of his 7 children. The otologic features were conductive hearing loss and prominent auricles with large conchae and preauricular fistulas just in front of the helix. Lateral cervical fistulas were present in some. Sunken nasal root, narrow nose, and long face were striking. The neck appeared long with sloping shoulders, low-set clavicles, and winged scapulae. All showed a mild intellectual deficit. <a href="#4" class="mim-tip-reference" title="Gorlin, R. J. &lt;strong&gt;Personal Communication.&lt;/strong&gt; Minneapolis, Minn. 1982."None>Gorlin (1982)</a> stated that this was the only known kindred with this disorder.</p><p><a href="#1" class="mim-tip-reference" title="Dallapiccola, B., Mingarelli, R. &lt;strong&gt;Otofaciocervical syndrome: a sporadic patient supports splitting from the branchio-oto-renal syndrome.&lt;/strong&gt; J. Med. Genet. 32: 816-818, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8558563/&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;8558563&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.32.10.816&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="8558563">Dallapiccola and Mingarelli (1995)</a> presented a sporadic case which they suggested supports the distinctness of the otofaciocervical syndrome. Distinguishing features were a long face with narrow nose, highly arched palate, prominent and dysmorphic ears, long neck, sloping shoulders and clavicles, winged, low and laterally set scapulae, tetralogy of Fallot, and deafness secondary to cochlea malformation. Several features present in the original family, including lateral cervical fistulae, had suggested that otofaciocervical syndrome is a variant of branchiootorenal syndrome (BOR; <a href="/entry/113650">113650</a>). The absence of preauricular tags, lacrimal duct stenosis, and renal malformations, and the presence of distinct facial and radiographic findings and markedly downward sloping shoulders in their patient led <a href="#1" class="mim-tip-reference" title="Dallapiccola, B., Mingarelli, R. &lt;strong&gt;Otofaciocervical syndrome: a sporadic patient supports splitting from the branchio-oto-renal syndrome.&lt;/strong&gt; J. Med. Genet. 32: 816-818, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8558563/&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;8558563&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.32.10.816&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="8558563">Dallapiccola and Mingarelli (1995)</a> to suggest that the syndrome is a unique, clinically recognizable entity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8558563" 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="Rickard, S., Parker, M., van&#x27;t Hoff, W., Barnicoat, A., Russell-Eggitt, I., Winter, R. M., Bitner-Glindzicz, M. &lt;strong&gt;Oto-facial-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cM.&lt;/strong&gt; Hum. Genet. 108: 398-403, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11409867/&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;11409867&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s004390100495&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="11409867">Rickard et al. (2001)</a> presented evidence that the otofaciocervical syndrome is a contiguous gene deletion syndrome involving the EYA1 gene, which is the site of mutations causing the branchiootorenal syndrome. One of the 2 patients they studied had previously been reported by <a href="#6" class="mim-tip-reference" title="Rajput, K., Phelps, P. D., Alles, R., Barnicoat, A., Winter, R. M., Reardon, W. &lt;strong&gt;Congenital middle-ear cholesteatoma in branchio-oto-renal syndrome.&lt;/strong&gt; J. Audiol. Med. 8: 30-37, 1999."None>Rajput et al. (1999)</a>. She presented with moderate hearing loss, bilateral preauricular pits, a single lacrimal duct, a cup-shaped ear, and unilateral facial palsy. A congenital cholesteatoma was identified in her right middle ear and was treated surgically. She was of short stature and had a short neck and pronounced sloping shoulders, with limited shoulder abduction. X-rays showed lateral displaced scapulae. She had mild developmental delay. A renal ultrasound showed a small left kidney and a right kidney of normal size with a bifid pelvis. Both parents were unaffected and intellectually normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11409867" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="inheritance" class="mim-anchor"></a>
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<p>The heterozygous mutation in the EYA1 gene that was identified by <a href="#2" class="mim-tip-reference" title="Estefania, E., Ramirez-Camacho, R., Gomar, M., Trinidad, A., Arellano, B., Garcia-Berrocal, J. R., Verdaguer, J. M., Vilches, C. &lt;strong&gt;Point mutation of an EYA1-gene splice site in a patient with oto-facio-cervical syndrome.&lt;/strong&gt; Ann. Hum. Genet. 70: 140-144, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16441263/&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;16441263&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1529-8817.2005.00204.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="16441263">Estefania et al. (2006)</a> in a patient with OTFC syndrome occurred de novo. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16441263" 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="#2" class="mim-tip-reference" title="Estefania, E., Ramirez-Camacho, R., Gomar, M., Trinidad, A., Arellano, B., Garcia-Berrocal, J. R., Verdaguer, J. M., Vilches, C. &lt;strong&gt;Point mutation of an EYA1-gene splice site in a patient with oto-facio-cervical syndrome.&lt;/strong&gt; Ann. Hum. Genet. 70: 140-144, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16441263/&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;16441263&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1529-8817.2005.00204.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="16441263">Estefania et al. (2006)</a> described a patient with the OTFC syndrome who had a heterozygous de novo change of the first nucleotide in intron 6 of the EYA1 gene from guanine to adenine (540+1G-A; <a href="/entry/601653#0014">601653.0014</a>). The patient, who was 29 years old at the time of report, had bilateral conductive hearing loss and multiple malformations that led to the diagnosis of OTFC dysplasia. Chest x-ray showed diastasis of the right sternoclavicular joint, and urography demonstrated bilateral sponge kidneys. The patient had a long and narrow face, preauricular and cervical pits, prominent and cupped ears, a highly arched palate, sloping shoulders and clavicles, and trapezius hypoplasia which allowed adduction of the shoulders. Possibly unrelated to the syndrome, the patient had a selective deficiency of IgA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16441263" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<ol>
<li>
<a id="1" class="mim-anchor"></a>
<a id="Dallapiccola1995" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Dallapiccola, B., Mingarelli, R.
<strong>Otofaciocervical syndrome: a sporadic patient supports splitting from the branchio-oto-renal syndrome.</strong>
J. Med. Genet. 32: 816-818, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8558563/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8558563</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8558563" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmg.32.10.816" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="2" class="mim-anchor"></a>
<a id="Estefania2006" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Estefania, E., Ramirez-Camacho, R., Gomar, M., Trinidad, A., Arellano, B., Garcia-Berrocal, J. R., Verdaguer, J. M., Vilches, C.
<strong>Point mutation of an EYA1-gene splice site in a patient with oto-facio-cervical syndrome.</strong>
Ann. Hum. Genet. 70: 140-144, 2006.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16441263/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16441263</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16441263" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1529-8817.2005.00204.x" target="_blank">Full Text</a>]
</p>
</div>
</li>
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<a id="3" class="mim-anchor"></a>
<a id="Fara1967" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Fara, M., Chlupackova, V., Hrivnakova, J.
<strong>Dismorphia oto-facio-cervicalis familiaris.</strong>
Acta Chir. Plast. 9: 255-268, 1967.
</p>
</div>
</li>
<li>
<a id="4" class="mim-anchor"></a>
<a id="Gorlin1982" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Gorlin, R. J.
<strong>Personal Communication.</strong>
Minneapolis, Minn. 1982.
</p>
</div>
</li>
<li>
<a id="5" class="mim-anchor"></a>
<a id="Pohl2013" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Pohl, E., Aykut, A., Beleggia, F., Karaca, E., Durmaz, B., Keupp, K., Arslan, E., Palamar, M., Yigit, G., Ozkinay, F., Wollnik, B.
<strong>A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome.</strong>
Hum. Genet. 132: 1311-1320, 2013. Note: Erratum: Hum. Genet. 132: 1321 only, 2013.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23851939/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23851939</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23851939" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/s00439-013-1337-9" target="_blank">Full Text</a>]
</p>
</div>
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<a id="6" class="mim-anchor"></a>
<a id="Rajput1999" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Rajput, K., Phelps, P. D., Alles, R., Barnicoat, A., Winter, R. M., Reardon, W.
<strong>Congenital middle-ear cholesteatoma in branchio-oto-renal syndrome.</strong>
J. Audiol. Med. 8: 30-37, 1999.
</p>
</div>
</li>
<li>
<a id="7" class="mim-anchor"></a>
<a id="Rickard2001" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Rickard, S., Parker, M., van't Hoff, W., Barnicoat, A., Russell-Eggitt, I., Winter, R. M., Bitner-Glindzicz, M.
<strong>Oto-facial-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cM.</strong>
Hum. Genet. 108: 398-403, 2001.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11409867/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11409867</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11409867" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/s004390100495" target="_blank">Full Text</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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Marla J. F. O'Neill - updated : 12/5/2013
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Victor A. McKusick - updated : 3/28/2006<br>Victor A. McKusick - updated : 5/31/2001
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Victor A. McKusick : 6/2/1986
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alopez : 03/21/2024
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<h3>
<span class="mim-font">
<strong>#</strong> 166780
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<h3>
<span class="mim-font">
OTOFACIOCERVICAL SYNDROME 1; OTFCS
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<div >
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
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</p>
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<h4>
<span class="mim-font">
OFC; OFC1
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<p>
<span class="mim-text-font">
<strong>ORPHA:</strong> 2792; &nbsp;
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<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed 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
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Gene/Locus <br /> MIM number
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</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
8q13.3
</span>
</td>
<td>
<span class="mim-font">
?Otofaciocervical syndrome
</span>
</td>
<td>
<span class="mim-font">
166780
</span>
</td>
<td>
<span class="mim-font">
Autosomal dominant
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</td>
<td>
<span class="mim-font">
3
</span>
</td>
<td>
<span class="mim-font">
EYA1
</span>
</td>
<td>
<span class="mim-font">
601653
</span>
</td>
</tr>
</tbody>
</table>
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<h4>
<span class="mim-font">
<strong>TEXT</strong>
</span>
</h4>
<span class="mim-text-font">
<p>A number sign (#) is used with this entry because of evidence that otofaciocervical syndrome-1 (OTFCS1) is caused by a contiguous gene deletion involving the EYA1 gene (601653). One patient has been reported with a heterozygous mutation in the EYA1 gene.</p>
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<h4>
<span class="mim-font">
<strong>Description</strong>
</span>
</h4>
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<span class="mim-text-font">
<p>Otofaciocervical syndrome (OTFCS) is a rare disorder characterized by facial anomalies, cup-shaped low-set ears, preauricular fistulas, hearing loss, branchial defects, skeletal anomalies including vertebral defects, low-set clavicles, winged scapulae, sloping shoulders, and mild intellectual disability (summary by Pohl et al., 2013). </p><p><strong><em>Genetic Heterogeneity of Otofaciocervical Syndrome</em></strong></p><p>
OTFCS2 (615560) is caused by mutation in the PAX1 gene (167411) on chromosome 20p11.</p>
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<h4>
<span class="mim-font">
<strong>Clinical Features</strong>
</span>
</h4>
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<span class="mim-text-font">
<p>Otofaciocervical syndrome was described by Fara et al. (1967) in a man and 4 of his 7 children. The otologic features were conductive hearing loss and prominent auricles with large conchae and preauricular fistulas just in front of the helix. Lateral cervical fistulas were present in some. Sunken nasal root, narrow nose, and long face were striking. The neck appeared long with sloping shoulders, low-set clavicles, and winged scapulae. All showed a mild intellectual deficit. Gorlin (1982) stated that this was the only known kindred with this disorder.</p><p>Dallapiccola and Mingarelli (1995) presented a sporadic case which they suggested supports the distinctness of the otofaciocervical syndrome. Distinguishing features were a long face with narrow nose, highly arched palate, prominent and dysmorphic ears, long neck, sloping shoulders and clavicles, winged, low and laterally set scapulae, tetralogy of Fallot, and deafness secondary to cochlea malformation. Several features present in the original family, including lateral cervical fistulae, had suggested that otofaciocervical syndrome is a variant of branchiootorenal syndrome (BOR; 113650). The absence of preauricular tags, lacrimal duct stenosis, and renal malformations, and the presence of distinct facial and radiographic findings and markedly downward sloping shoulders in their patient led Dallapiccola and Mingarelli (1995) to suggest that the syndrome is a unique, clinically recognizable entity. </p><p>Rickard et al. (2001) presented evidence that the otofaciocervical syndrome is a contiguous gene deletion syndrome involving the EYA1 gene, which is the site of mutations causing the branchiootorenal syndrome. One of the 2 patients they studied had previously been reported by Rajput et al. (1999). She presented with moderate hearing loss, bilateral preauricular pits, a single lacrimal duct, a cup-shaped ear, and unilateral facial palsy. A congenital cholesteatoma was identified in her right middle ear and was treated surgically. She was of short stature and had a short neck and pronounced sloping shoulders, with limited shoulder abduction. X-rays showed lateral displaced scapulae. She had mild developmental delay. A renal ultrasound showed a small left kidney and a right kidney of normal size with a bifid pelvis. Both parents were unaffected and intellectually normal. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Inheritance</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>The heterozygous mutation in the EYA1 gene that was identified by Estefania et al. (2006) in a patient with OTFC syndrome occurred de novo. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Estefania et al. (2006) described a patient with the OTFC syndrome who had a heterozygous de novo change of the first nucleotide in intron 6 of the EYA1 gene from guanine to adenine (540+1G-A; 601653.0014). The patient, who was 29 years old at the time of report, had bilateral conductive hearing loss and multiple malformations that led to the diagnosis of OTFC dysplasia. Chest x-ray showed diastasis of the right sternoclavicular joint, and urography demonstrated bilateral sponge kidneys. The patient had a long and narrow face, preauricular and cervical pits, prominent and cupped ears, a highly arched palate, sloping shoulders and clavicles, and trapezius hypoplasia which allowed adduction of the shoulders. Possibly unrelated to the syndrome, the patient had a selective deficiency of IgA. </p>
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div>
<ol>
<li>
<p class="mim-text-font">
Dallapiccola, B., Mingarelli, R.
<strong>Otofaciocervical syndrome: a sporadic patient supports splitting from the branchio-oto-renal syndrome.</strong>
J. Med. Genet. 32: 816-818, 1995.
[PubMed: 8558563]
[Full Text: https://doi.org/10.1136/jmg.32.10.816]
</p>
</li>
<li>
<p class="mim-text-font">
Estefania, E., Ramirez-Camacho, R., Gomar, M., Trinidad, A., Arellano, B., Garcia-Berrocal, J. R., Verdaguer, J. M., Vilches, C.
<strong>Point mutation of an EYA1-gene splice site in a patient with oto-facio-cervical syndrome.</strong>
Ann. Hum. Genet. 70: 140-144, 2006.
[PubMed: 16441263]
[Full Text: https://doi.org/10.1111/j.1529-8817.2005.00204.x]
</p>
</li>
<li>
<p class="mim-text-font">
Fara, M., Chlupackova, V., Hrivnakova, J.
<strong>Dismorphia oto-facio-cervicalis familiaris.</strong>
Acta Chir. Plast. 9: 255-268, 1967.
</p>
</li>
<li>
<p class="mim-text-font">
Gorlin, R. J.
<strong>Personal Communication.</strong>
Minneapolis, Minn. 1982.
</p>
</li>
<li>
<p class="mim-text-font">
Pohl, E., Aykut, A., Beleggia, F., Karaca, E., Durmaz, B., Keupp, K., Arslan, E., Palamar, M., Yigit, G., Ozkinay, F., Wollnik, B.
<strong>A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome.</strong>
Hum. Genet. 132: 1311-1320, 2013. Note: Erratum: Hum. Genet. 132: 1321 only, 2013.
[PubMed: 23851939]
[Full Text: https://doi.org/10.1007/s00439-013-1337-9]
</p>
</li>
<li>
<p class="mim-text-font">
Rajput, K., Phelps, P. D., Alles, R., Barnicoat, A., Winter, R. M., Reardon, W.
<strong>Congenital middle-ear cholesteatoma in branchio-oto-renal syndrome.</strong>
J. Audiol. Med. 8: 30-37, 1999.
</p>
</li>
<li>
<p class="mim-text-font">
Rickard, S., Parker, M., van't Hoff, W., Barnicoat, A., Russell-Eggitt, I., Winter, R. M., Bitner-Glindzicz, M.
<strong>Oto-facial-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cM.</strong>
Hum. Genet. 108: 398-403, 2001.
[PubMed: 11409867]
[Full Text: https://doi.org/10.1007/s004390100495]
</p>
</li>
</ol>
<div>
<br />
</div>
</div>
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Contributors:
</span>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
<span class="mim-text-font">
Marla J. F. O&#x27;Neill - updated : 12/5/2013<br>Victor A. McKusick - updated : 3/28/2006<br>Victor A. McKusick - updated : 5/31/2001
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Creation Date:
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Victor A. McKusick : 6/2/1986
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alopez : 03/21/2024<br>carol : 02/04/2016<br>carol : 2/4/2016<br>carol : 12/5/2013<br>carol : 9/27/2013<br>carol : 8/2/2006<br>ckniffin : 7/31/2006<br>alopez : 3/30/2006<br>terry : 3/28/2006<br>cwells : 6/15/2001<br>cwells : 6/6/2001<br>terry : 6/5/2001<br>cwells : 5/31/2001<br>terry : 5/31/2001<br>mark : 11/6/1995<br>mimadm : 1/14/1995<br>warfield : 4/12/1994<br>supermim : 3/16/1992<br>carol : 3/8/1992<br>supermim : 3/20/1990
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