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<title>
Entry
- #214150 - CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1
- OMIM
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<span class="h4">#214150</span>
<br />
<strong>Table of Contents</strong>
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<li role="presentation">
<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/214150"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS214150"> <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="#diagnosis">Diagnosis</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#cytogenetics">Cytogenetics</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#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="#nomenclature">Nomenclature</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=(CEREBROOCULOFACIOSKELETAL SYNDROME) OR (ERCC6)" class="mim-tip-hint" title="Clinical Trials" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=1649&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">COFS syndrome&nbsp;</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=638&Typ=Pat" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Cockayne syndrome&nbsp;</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/1246" 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>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/30b41380-7bb5-483e-9e14-76b474cc709f/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>
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<div style="display: table-cell;">Animal Models</div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0080911" 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/214150" 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>
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:214150" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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<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.">
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<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> 1466, 191<br />
<strong>DO:</strong> 0080911<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>
214150
</span>
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<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<a id="alternativeTitles" class="mim-anchor"></a>
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<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
COFS SYNDROME; COFS<br />
PENA-SHOKEIR SYNDROME, TYPE II
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
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<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/10/190?start=-3&limit=10&highlight=190">
10q11.23
</a>
</span>
</td>
<td>
<span class="mim-font">
Cerebrooculofacioskeletal syndrome 1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/214150"> 214150 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
ERCC6
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609413"> 609413 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
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<a href="/clinicalSynopsis/214150" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<a href="/phenotypicSeries/PS214150" class="btn btn-info" role="button"> Phenotypic Series </a>
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PheneGene Graphics <span class="caret"></span>
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<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/214150" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/214150" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
</ul>
</div>
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GROWTH </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Weight </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Normal or decreased birth weight <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3550276&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3550276</a>]</span><br /> -
Failure to thrive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/432788009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">432788009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/54840006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">54840006</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015544&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015544</a>, <a href="https://bioportal.bioontology.org/search?q=C2315100&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2315100</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001508</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Head </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Microcephaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1148757008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1148757008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q02</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/742.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">742.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551563&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551563</a>, <a href="https://bioportal.bioontology.org/search?q=C0025958&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025958</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Microcephaly-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Face </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Micrognathia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32958008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32958008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M26.04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M26.04</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.04</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0025990&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025990</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000347</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000347</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9149eccae19753e96defbd69602ab882" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Micrognathia-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=9149eccae19753e96defbd69602ab882&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Sloping forehead <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857679&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857679</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000340" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000340</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000340" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000340</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=55cd7ed83868b07da866b39707988156" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Forehead,Sloping-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=55cd7ed83868b07da866b39707988156&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 philtrum <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1865014&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1865014</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000343" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000343</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000343" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000343</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=6e8169f9668cf95ffe7aad93a28f672b" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Philtrum,Long-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=6e8169f9668cf95ffe7aad93a28f672b&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">
- Large ear pinnae <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859220&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859220</a>]</span><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">
- Cataracts <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/193570009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">193570009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/247053007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">247053007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95722004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95722004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H26.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H26.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/366" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">366</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/366.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">366.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0086543&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0086543</a>, <a href="https://bioportal.bioontology.org/search?q=C0521707&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0521707</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000518</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000518</a>]</span><br /> -
Blepharophimosis <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/374.46" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">374.46</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0005744&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0005744</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000581" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000581</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000581" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000581</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=0f0375071b81e81be36302aa011b44dc" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Blepharophimosis-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=0f0375071b81e81be36302aa011b44dc&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 /> -
Microphthalmia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204108000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204108000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/61142002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">61142002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q11.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q11.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/743.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/743.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/743.11" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.11</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026010&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026010</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000568" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000568</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000568" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000568</a>]</span><br /> -
Deep-set eyes <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246923005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246923005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423224&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423224</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000490" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000490</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000490" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000490</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=08eb099548b91270db09ad79e8e75da3" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Eye,Deeply_Set-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=08eb099548b91270db09ad79e8e75da3&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 /> -
Nystagmus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/563001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">563001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/379.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">379.50</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0028738&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0028738</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Nose </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Prominent nasal root <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854113&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854113</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000426" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000426</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000426" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000426</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">
- Upper lip overlaps lower lip <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859221&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859221</a>]</span><br /> -
Thin lips <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/301348000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">301348000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0578038&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0578038</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000233" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000233</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000233" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000233</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> Breasts </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Widely spaced nipples <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/423230008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">423230008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1827524&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1827524</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006610" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006610</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006610" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006610</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKELETAL </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Arthrogryposis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/111246005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">111246005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/205402004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">205402004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q74.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q74.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003886&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003886</a>, <a href="https://bioportal.bioontology.org/search?q=C5779613&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5779613</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002804" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002804</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002804" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002804</a>]</span><br /> -
Osteoporosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/64859006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">64859006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Z82.62" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Z82.62</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M81.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M81.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/733.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">733.0</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/V17.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">V17.81</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/733.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">733.00</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2911643&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2911643</a>, <a href="https://bioportal.bioontology.org/search?q=C0029456&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0029456</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000939" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000939</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000939" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000939</a>]</span><br />
</span>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Spine </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Kyphoscoliosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405771009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405771009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405772002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405772002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405773007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405773007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0600033&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0600033</a>, <a href="https://bioportal.bioontology.org/search?q=C0575158&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0575158</a>, <a href="https://bioportal.bioontology.org/search?q=C0345392&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0345392</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002751" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002751</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0008453" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008453</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002751" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002751</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Pelvis </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Coxa valga <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/33754009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">33754009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16979000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16979000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/299236004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">299236004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q65.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q65.81</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/755.61" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">755.61</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/736.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">736.31</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0158480&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158480</a>, <a href="https://bioportal.bioontology.org/search?q=C0152430&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0152430</a>, <a href="https://bioportal.bioontology.org/search?q=C0239137&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239137</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002673" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002673</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002673" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002673</a>]</span><br /> -
Shallow acetabular angle <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859222&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859222</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Limbs </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Elbow flexion contracture <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/202271004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">202271004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M21.22" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M21.22</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0409338&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0409338</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002987" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002987</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002987" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002987</a>]</span><br /> -
Knee flexion contracture <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/202289003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">202289003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0409355&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0409355</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006380" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006380</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006380" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006380</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Hands </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Camptodactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29271008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29271008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221369&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221369</a>, <a href="https://bioportal.bioontology.org/search?q=C0685409&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0685409</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012385" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012385</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012385" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012385</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=56cd131f7e4abed85662f1f7e23b10a2" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Camptodactyly-large-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=56cd131f7e4abed85662f1f7e23b10a2&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> Feet </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Vertical talus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/205082007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">205082007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240912&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240912</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001838" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001838</a>]</span><br /> -
Rocker-bottom feet <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/205082007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">205082007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240912&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240912</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001838" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001838</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001838" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001838</a>]</span><br /> -
Longitudinal groove on soles <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859223&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859223</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004681" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004681</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004681" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004681</a>]</span><br /> -
Second metatarsal posteriorly placed <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859224&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859224</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008125" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008125</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008125" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008125</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKIN, NAILS, & HAIR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Hair </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hirsutism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399939002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399939002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L68.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L68.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/704.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">704.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001007</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> NEUROLOGIC </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Central Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Mental retardation, profound <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/31216003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">31216003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F73" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F73</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020796&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020796</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002187" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002187</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002187" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002187</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/317-319.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">317-319.99</a>]</span><br /> -
Lack of motor development <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3550275&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3550275</a>]</span><br /> -
Lack of speech development <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2675215&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2675215</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001344" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001344</a>]</span><br /> -
Optic tract and chiasm hypoplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859216&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859216</a>]</span><br /> -
Focal microgyria <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859217&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859217</a>]</span><br /> -
Agenesis of corpus callosum <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/5102002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">5102002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q04.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q04.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0175754&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0175754</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001274" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001274</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001274" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001274</a>]</span><br /> -
Infantile spasm <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/28055006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">28055006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G40.82" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G40.82</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/345.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">345.6</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3887898&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3887898</a>, <a href="https://bioportal.bioontology.org/search?q=C0037769&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0037769</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011097" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011097</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0012469" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012469</a>]</span><br /> -
Hypotonia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398151007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398151007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398152000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398152000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026827&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026827</a>, <a href="https://bioportal.bioontology.org/search?q=C1858120&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858120</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001290" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001290</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span><br /> -
Delayed myelination <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/135810007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">135810007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1277241&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1277241</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012448" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012448</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012448" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012448</a>]</span><br /> -
Cerebellar hypoplasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16026008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16026008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266470&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266470</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001321" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001321</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001321" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001321</a>]</span><br /> -
Subcortical gliosis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859218&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859218</a>]</span><br /> -
Third ventricle subependymal focal gliosis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1859219&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1859219</a>]</span><br />
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<span class="h5 mim-font">
<strong> LABORATORY ABNORMALITIES </strong>
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<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Fibroblasts show hypersensitivity to UV irradiation due to defect in transcription-coupled nucleotide excision repair (TC-NER) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3550277&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3550277</a>]</span><br />
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<span class="h5 mim-font">
<strong> MISCELLANEOUS </strong>
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- Death in childhood <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1843392&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1843392</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003819" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003819</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003819" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003819</a>]</span><br />
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<strong> MOLECULAR BASIS </strong>
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- Caused by mutation in the ERCC excision repair 6, chromatin remodeling factor gene (ERCC6, <a href="/entry/609413#0007">609413.0007</a>)<br />
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<h5>
Cerebrooculofacioskeletal syndrome
- <a href="/phenotypicSeries/PS214150">PS214150</a>
- 4 Entries
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<strong>Location</strong>
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<strong>Phenotype</strong>
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<strong>Inheritance</strong>
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<strong>Phenotype<br />mapping key</strong>
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<strong>Phenotype<br />MIM number</strong>
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<strong>Gene/Locus</strong>
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<strong>Gene/Locus<br />MIM number</strong>
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<span class="mim-font">
<a href="/geneMap/10/190?start=-3&limit=10&highlight=190"> 10q11.23 </a>
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<span class="mim-font">
<a href="/entry/214150"> Cerebrooculofacioskeletal syndrome 1 </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/214150"> 214150 </a>
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<a href="/entry/609413"> ERCC6 </a>
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<span class="mim-font">
<a href="/entry/609413"> 609413 </a>
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<span class="mim-font">
<a href="/geneMap/13/298?start=-3&limit=10&highlight=298"> 13q33.1 </a>
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<td>
<span class="mim-font">
<a href="/entry/616570"> Cerebrooculofacioskeletal syndrome 3 </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</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/616570"> 616570 </a>
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<span class="mim-font">
<a href="/entry/133530"> ERCC5 </a>
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<span class="mim-font">
<a href="/entry/133530"> 133530 </a>
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<span class="mim-font">
<a href="/geneMap/19/818?start=-3&limit=10&highlight=818"> 19q13.32 </a>
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<span class="mim-font">
<a href="/entry/610756"> ?Cerebrooculofacioskeletal syndrome 2 </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<td>
<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/610756"> 610756 </a>
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<span class="mim-font">
<a href="/entry/126340"> ERCC2 </a>
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<span class="mim-font">
<a href="/entry/126340"> 126340 </a>
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<td>
<span class="mim-font">
<a href="/geneMap/19/821?start=-3&limit=10&highlight=821"> 19q13.32 </a>
</span>
</td>
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<span class="mim-font">
<a href="/entry/610758"> Cerebrooculofacioskeletal syndrome 4 </a>
</span>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
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<td>
<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/610758"> 610758 </a>
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<span class="mim-font">
<a href="/entry/126380"> ERCC1 </a>
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<span class="mim-font">
<a href="/entry/126380"> 126380 </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 cerebrooculofacioskeletal syndrome-1 (COFS1) is caused by homozygous or compound heterozygous mutation in the ERCC6 gene (<a href="/entry/609413">609413</a>) on chromosome 10q11.</p><p>Cockayne syndrome type B (CSB; <a href="/entry/133540">133540</a>) is an allelic disorder.</p>
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<a id="description" class="mim-anchor"></a>
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<strong>Description</strong>
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<p>Cerebrooculofacioskeletal syndrome (COFS) is an autosomal recessive progressive neurodegenerative disorder characterized by microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis (summary by <a href="#4" class="mim-tip-reference" title="Jaakkola, E., Mustonen, A., Olsen, P., Miettinen, S., Savuoja, T., Raams, A., Jaspers, N. G. J., Shao, H., Wu, B. L., Ignatius, J. &lt;strong&gt;ERCC6 founder mutation identified in Finnish patients with COFS syndrome.&lt;/strong&gt; Clin. Genet. 78: 541-547, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20456449/&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;20456449&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.2010.01424.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="20456449">Jaakkola et al., 2010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20456449" 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 Cerebrooculofacioskeletal Syndrome</em></strong></p><p>
See also COFS2 (<a href="/entry/610756">610756</a>), caused by mutation in the ERCC2 gene (<a href="/entry/126340">126340</a>); COFS3 (<a href="/entry/616570">616570</a>), caused by mutation in the ERCC5 gene (<a href="/entry/133530">133530</a>); and COFS4 (<a href="/entry/610758">610758</a>), caused by mutation in the ERCC1 gene (<a href="/entry/126380">126380</a>).</p>
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<p><a href="#13" class="mim-tip-reference" title="Pena, S. D. J., Shokeir, M. H. K. &lt;strong&gt;Syndrome of camptodactyly, multiple ankyloses, facial anomalies, and pulmonary hypoplasia: a lethal condition.&lt;/strong&gt; J. Pediat. 85: 373-375, 1974.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4431498/&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;4431498&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(74)80119-8&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="4431498">Pena and Shokeir (1974)</a> observed 10 patients in 3 kindreds with a syndrome composed of microcephaly, hypotonia, failure to thrive, arthrogryposis, eye defects, prominent nose, large ears, overhanging upper lip, micrognathia, widely set nipples, kyphoscoliosis, and osteoporosis. The first 2 kindreds were American Indian with French admixture and much consanguinity in the first of these. <a href="#15" class="mim-tip-reference" title="Preus, M., Fraser, F. C. &lt;strong&gt;The cerebro-oculo-facio-skeletal syndrome.&lt;/strong&gt; Clin. Genet. 5: 294-297, 1974.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4212394/&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;4212394&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1974.tb01696.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="4212394">Preus and Fraser (1974)</a> described a single case in an offspring of first-cousin parents of Italian extraction. One of Pena and Shokeir's affected sibships (2 affected out of 6 children) had brother-sister parents. <a href="#20" class="mim-tip-reference" title="Surana, R. B., Fraga, J. R., Sinkford, S. M. &lt;strong&gt;The cerebro-oculo-facio-skeletal syndrome.&lt;/strong&gt; Clin. Genet. 13: 486-488, 1978.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/97035/&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;97035&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1978.tb01203.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="97035">Surana et al. (1978)</a> described COFS syndrome in a black American infant. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4431498+97035+4212394" 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="#6" class="mim-tip-reference" title="Lerman-Sagie, T., Levi, Y., Kidron, D., Grunebaum, M., Nitzan, M. &lt;strong&gt;Syndrome of osteopetrosis and muscular degeneration associated with cerebro-oculo-facio-skeletal changes.&lt;/strong&gt; Am. J. Med. Genet. 28: 137-142, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3674107/&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;3674107&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320280120&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="3674107">Lerman-Sagie et al. (1987)</a> described an infant with COFS manifestations plus radiologic and pathologic findings of osteopetrosis and severe degeneration of skeletal muscles. The muscular changes appeared to be the cause of the flexion contractures present at birth. <a href="#2" class="mim-tip-reference" title="Gershoni-Baruch, R., Ludatscher, R. M., Lichtig, C., Sujov, P., Machoul, I. &lt;strong&gt;Cerebro-oculo-facio-skeletal syndrome: further delineation.&lt;/strong&gt; Am. J. Med. Genet. 41: 74-77, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1951466/&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;1951466&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320410119&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="1951466">Gershoni-Baruch et al. (1991)</a> reported the case of an infant born of first-cousin parents who had findings of congenital muscular dystrophy. <a href="#5" class="mim-tip-reference" title="Laugel, V., Dalloz, C., Tobias, E. S., Tolmie, J. L., Martin-Coignard, D., Drouin-Garraud, V., Valatannopoulos, V., Sarasin, A., Dollfus, H. &lt;strong&gt;Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation.&lt;/strong&gt; J. Med. Genet. 45: 564-571, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18628313/&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;18628313&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.2007.057141&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="18628313">Laugel et al. (2008)</a> questioned the diagnosis of COFS in the patient reported by <a href="#2" class="mim-tip-reference" title="Gershoni-Baruch, R., Ludatscher, R. M., Lichtig, C., Sujov, P., Machoul, I. &lt;strong&gt;Cerebro-oculo-facio-skeletal syndrome: further delineation.&lt;/strong&gt; Am. J. Med. Genet. 41: 74-77, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1951466/&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;1951466&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320410119&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="1951466">Gershoni-Baruch et al. (1991)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18628313+3674107+1951466" 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>The patients studied by <a href="#10" class="mim-tip-reference" title="Meira, L. B., Graham, J. M., Jr., Greenberg, C. R., Busch, D. B., Doughty, A. T. B., Ziffer, D. W., Coleman, D. M., Savre-Train, I., Friedberg, E. C. &lt;strong&gt;Manitoba aboriginal kindred with original cerebro-oculo-facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene.&lt;/strong&gt; Am. J. Hum. Genet. 66: 1221-1228, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10739753/&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;10739753&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=10739753[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/302867&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="10739753">Meira et al. (2000)</a>, the surviving boy of a dizygotic male-female twin pair and a girl who was not closely related, were related to the Manitoba aboriginal population group within which COFS syndrome was originally reported by <a href="#8" class="mim-tip-reference" title="Lowry, R. B., MacLean, R., McLean, D. M., Tischler, B. &lt;strong&gt;Cataracts, microcephaly, kyphosis, and limited joint movement in two siblings: a new syndrome.&lt;/strong&gt; J. Pediat. 79: 282-284, 1971.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5560051/&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;5560051&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(71)80114-2&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="5560051">Lowry et al. (1971)</a> and <a href="#12" class="mim-tip-reference" title="Pena, S. D. J., Shokeir, M. H. K. &lt;strong&gt;Autosomal recessive cerebro-oculo-facio-skeletal (COFS) syndrome.&lt;/strong&gt; Clin. Genet. 5: 285-293, 1974.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4211825/&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;4211825&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1974.tb01695.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="4211825">Pena and Shokeir (1974)</a>. The twins had microcephaly, deep-set eyes, bilateral microphthalmia and cataracts, overhanging upper lips, and prominent noses, and the boy had undescended testes. They showed failure to thrive, recurrent pneumonias, axial hypotonia, appendicular hypertonia, hyperreflexia, and progressive contractures. Both were considered to have typical COFS syndrome. The girl died at age 5 years. Cranial computed tomography (CT) had shown enlargement of the ventricles and subarachnoid spaces, with calcifications in the periventricular frontal white matter and basal ganglia. Autopsy showed severe neurodegeneration, with markedly reduced brain weight, patchy demyelination in the cerebrum and hindbrain, neuronal loss and gliosis in the cerebral cortex, and pericapillary and parenchymal mineralization in the cortex and basal ganglia; this was case 7 in the study of <a href="#1" class="mim-tip-reference" title="Del Bigio, M. R., Greenberg, C. R., Rorke, L. B., Schnur, R., McDonald-McGinn, D. M., Zackai, E. H. &lt;strong&gt;Neuropathological findings in eight children with cerebro-oculo-facio-skeletal (COFS) syndrome.&lt;/strong&gt; J. Neuropath. Exp. Neurol. 56: 1147-1157, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9329459/&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;9329459&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1097/00005072-199710000-00009&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="9329459">Del Bigio et al. (1997)</a>. The boy showed normal hearing at age 2 years, but profound hearing loss by age 6 years, when he was found to have insulin resistance. At age 7 years he had CT changes similar to those in his sister. He never manifested cutaneous photosensitivity or actinic keratoses, but at age 10 years he had ocular photosensitivity with consistently constricted pupils. The boy died at age 11 years. In the third patient reported by <a href="#10" class="mim-tip-reference" title="Meira, L. B., Graham, J. M., Jr., Greenberg, C. R., Busch, D. B., Doughty, A. T. B., Ziffer, D. W., Coleman, D. M., Savre-Train, I., Friedberg, E. C. &lt;strong&gt;Manitoba aboriginal kindred with original cerebro-oculo-facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene.&lt;/strong&gt; Am. J. Hum. Genet. 66: 1221-1228, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10739753/&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;10739753&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=10739753[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/302867&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="10739753">Meira et al. (2000)</a>, the diagnosis of COFS syndrome was made at 2 years. The patient was the daughter of aboriginal parents from the same population as the dizygotic twins, although they were not known to be related. She presented at birth with growth deficiency, microcephaly, and bilateral microphthalmia with cataracts. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4211825+9329459+5560051+10739753" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Jaakkola, E., Mustonen, A., Olsen, P., Miettinen, S., Savuoja, T., Raams, A., Jaspers, N. G. J., Shao, H., Wu, B. L., Ignatius, J. &lt;strong&gt;ERCC6 founder mutation identified in Finnish patients with COFS syndrome.&lt;/strong&gt; Clin. Genet. 78: 541-547, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20456449/&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;20456449&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.2010.01424.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="20456449">Jaakkola et al. (2010)</a> reported a large multigenerational consanguineous Finnish kindred in which 6 individuals had COFS1. Two deceased patients had originally been reported by <a href="#7" class="mim-tip-reference" title="Linna, S.-L., Finni, K., Simila, S., Kouvalainen, K., Laitinen, J. &lt;strong&gt;Intracranial calcifications in cerebro-oculo-facio-skeletal (COFS) syndrome.&lt;/strong&gt; Pediat. Radiol. 12: 28-30, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7063265/&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;7063265&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF01221707&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="7063265">Linna et al. (1982)</a> as having COFS, 1 of whom had intracranial calcifications. Two patients, a boy and a girl, were reported in detail. Clinical features included failure to thrive, poor growth, lack of psychomotor development with inability to sit independently or speak, and arthrogryposis. Facial dysmorphism included microcephaly, deep-set eyes, cataracts, prominent nasal bridge, micrognathia, large ear pinna, and upper lip overlapping the lower lip. Both also had hearing loss and nystagmus; 1 developed seizures. Brain MRI showed hypoplasia of the corpus callosum, ventriculomegaly, and delayed myelination. The boy had cryptorchidism. The other family members had a similar phenotype. All patients died between ages 3 and 9 years. Cultured fibroblasts from the 2 patients reported in detail showed 3.6- to 5.4-fold hypersensitivity to UV irradiation due to a defect in transcription-coupled nucleotide excision repair (TC-NER). Complementation analysis showed that the gene responsible was ERCC6. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7063265+20456449" 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="#5" class="mim-tip-reference" title="Laugel, V., Dalloz, C., Tobias, E. S., Tolmie, J. L., Martin-Coignard, D., Drouin-Garraud, V., Valatannopoulos, V., Sarasin, A., Dollfus, H. &lt;strong&gt;Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation.&lt;/strong&gt; J. Med. Genet. 45: 564-571, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18628313/&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;18628313&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.2007.057141&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="18628313">Laugel et al. (2008)</a> proposed that diagnosis of COFS syndrome should require the following criteria: congenital microcephaly, congenital cataracts and/or microphthalmia, arthrogryposis, severe developmental delay, severe postnatal growth failure, and facial dysmorphism with prominent nasal root and/or overhanging upper lip, as well as a DNA repair defect in the transcription coupled repair pathway. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18628313" 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="#22" class="mim-tip-reference" title="Temtamy, S. A., Meguid, N. A., Mahmoud, A., Afifi, H. H., Gerzawy, A., Zaki, M. S. &lt;strong&gt;COFS syndrome with familial 1;16 translocation.&lt;/strong&gt; Clin. Genet. 50: 240-243, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9001808/&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;9001808&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1996.tb02635.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="9001808">Temtamy et al. (1996)</a> described a 3-year-old Egyptian girl, the only child of healthy first-cousin parents, with phenotypic abnormalities of the COFS syndrome. She had microcephaly, bilateral congenital cataract, nystagmus, long ear pinnae, camptodactyly, prominent heels, coxa valga, kyphosis, and flexure contracture of the elbows and knees. CT scan showed bilateral symmetric intracranial calcifications. In addition, she had an apparently balanced translocation: 46,XX,t(1;16)(q23;q13) in all cells. The translocation was transmitted from the phenotypically normal mother who was a mosaic for the translocation. <a href="#22" class="mim-tip-reference" title="Temtamy, S. A., Meguid, N. A., Mahmoud, A., Afifi, H. H., Gerzawy, A., Zaki, M. S. &lt;strong&gt;COFS syndrome with familial 1;16 translocation.&lt;/strong&gt; Clin. Genet. 50: 240-243, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9001808/&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;9001808&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1996.tb02635.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="9001808">Temtamy et al. (1996)</a> suggested that a gene for COFS may be located on 1q23 or 16q13. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9001808" 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 transmission pattern of COFS in the family reported by <a href="#10" class="mim-tip-reference" title="Meira, L. B., Graham, J. M., Jr., Greenberg, C. R., Busch, D. B., Doughty, A. T. B., Ziffer, D. W., Coleman, D. M., Savre-Train, I., Friedberg, E. C. &lt;strong&gt;Manitoba aboriginal kindred with original cerebro-oculo-facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene.&lt;/strong&gt; Am. J. Hum. Genet. 66: 1221-1228, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10739753/&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;10739753&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=10739753[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/302867&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="10739753">Meira et al. (2000)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10739753" 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>Molecular Genetics</strong>
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<p><a href="#10" class="mim-tip-reference" title="Meira, L. B., Graham, J. M., Jr., Greenberg, C. R., Busch, D. B., Doughty, A. T. B., Ziffer, D. W., Coleman, D. M., Savre-Train, I., Friedberg, E. C. &lt;strong&gt;Manitoba aboriginal kindred with original cerebro-oculo-facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene.&lt;/strong&gt; Am. J. Hum. Genet. 66: 1221-1228, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10739753/&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;10739753&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=10739753[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/302867&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="10739753">Meira et al. (2000)</a> presented evidence that 2 probands related to the Manitoba aboriginal population group within which COFS syndrome was originally reported by <a href="#8" class="mim-tip-reference" title="Lowry, R. B., MacLean, R., McLean, D. M., Tischler, B. &lt;strong&gt;Cataracts, microcephaly, kyphosis, and limited joint movement in two siblings: a new syndrome.&lt;/strong&gt; J. Pediat. 79: 282-284, 1971.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5560051/&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;5560051&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(71)80114-2&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="5560051">Lowry et al. (1971)</a> and <a href="#12" class="mim-tip-reference" title="Pena, S. D. J., Shokeir, M. H. K. &lt;strong&gt;Autosomal recessive cerebro-oculo-facio-skeletal (COFS) syndrome.&lt;/strong&gt; Clin. Genet. 5: 285-293, 1974.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4211825/&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;4211825&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1974.tb01695.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="4211825">Pena and Shokeir (1974)</a> had cellular phenotypes indistinguishable from those in Cockayne syndrome cells. Furthermore, the patients had an identical homozygous mutation in the ERCC6 gene (<a href="/entry/609413#0007">609413.0007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4211825+5560051+10739753" 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 unrelated patients with COFS syndrome, <a href="#5" class="mim-tip-reference" title="Laugel, V., Dalloz, C., Tobias, E. S., Tolmie, J. L., Martin-Coignard, D., Drouin-Garraud, V., Valatannopoulos, V., Sarasin, A., Dollfus, H. &lt;strong&gt;Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation.&lt;/strong&gt; J. Med. Genet. 45: 564-571, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18628313/&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;18628313&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.2007.057141&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="18628313">Laugel et al. (2008)</a> identified biallelic mutations in the ERCC6 gene (see, e.g., <a href="/entry/609413#0012">609413.0012</a>-<a href="/entry/609413#0014">609413.0014</a>). All patients showed classic clinical features of the disorder and cultured fibroblasts showed defective DNA repair. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18628313" 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 of 6 patients with COFS1 from a consanguineous Finnish family, <a href="#4" class="mim-tip-reference" title="Jaakkola, E., Mustonen, A., Olsen, P., Miettinen, S., Savuoja, T., Raams, A., Jaspers, N. G. J., Shao, H., Wu, B. L., Ignatius, J. &lt;strong&gt;ERCC6 founder mutation identified in Finnish patients with COFS syndrome.&lt;/strong&gt; Clin. Genet. 78: 541-547, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20456449/&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;20456449&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.2010.01424.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="20456449">Jaakkola et al. (2010)</a> identified a homozygous mutation in the ERCC6 gene (R1288X; <a href="/entry/609413#0015">609413.0015</a>). Fibroblast studies showed that the mutation caused a severe reduction of the encoded protein to 20% of controls. Genealogic analysis revealed that common ancestors for all the patients lived in the 18th century in a small village in northern Finland, consistent with a founder effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20456449" 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="nomenclature" class="mim-anchor"></a>
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<strong>Nomenclature</strong>
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<p><a href="#17" class="mim-tip-reference" title="Shokeir, M. H. K. &lt;strong&gt;Cerebro-oculo-facioskeletal (COFS) syndrome (Pena-Shokeir syndrome). In: Vinken, P. J.; Bruyn, G. W. (eds.): Handbook of Clinical Neurology. Neurogenetic Directory. Vol. 45. Part II.&lt;/strong&gt; Amsterdam: North Holland (pub.) 1982. Pp. 341-343."None>Shokeir (1982)</a> suggested that there are two types of Pena-Shokeir syndrome: type I (<a href="/entry/208150">208150</a>), which shows multiple ankyloses, camptodactyly, facial anomalies and pulmonary hypoplasia (Pena and Shokeir (<a href="#13" class="mim-tip-reference" title="Pena, S. D. J., Shokeir, M. H. K. &lt;strong&gt;Syndrome of camptodactyly, multiple ankyloses, facial anomalies, and pulmonary hypoplasia: a lethal condition.&lt;/strong&gt; J. Pediat. 85: 373-375, 1974.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4431498/&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;4431498&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(74)80119-8&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="4431498">1974</a>, <a href="#14" class="mim-tip-reference" title="Pena, S. D. J., Shokeir, M. H. K. &lt;strong&gt;Syndrome of camptodactyly, multiple ankyloses, facial anomalies and pulmonary hypoplasia: further delineation and evidence for autosomal recessive inheritance.&lt;/strong&gt; Birth Defects Orig. Art. Ser. XII(5): 201-208, 1976.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/953225/&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;953225&lt;/a&gt;]" pmid="953225">1976</a>)); and type II, also known as the COFS syndrome. In the third edition of Recognizable Patterns of Human Malformations, <a href="#19" class="mim-tip-reference" title="Smith, D. W. &lt;strong&gt;Recognizable Patterns of Human Malformations. (3rd ed.)&lt;/strong&gt; Philadelphia: W. B. Saunders (pub.) 1982. Pp. 136-137."None>Smith (1982)</a> also suggested that COFS be called Pena-Shokeir syndrome II. Because of potential confusion, this seems best avoided and the designation COFS used instead. <a href="#18" class="mim-tip-reference" title="Silengo, M. C., Davi, G., Bianco, R., Biagioli, M., Franceschini, P., Cavallo, M., Bussi, G. &lt;strong&gt;The NEU-COFS (cerebro-oculo-facio-skeletal) syndrome: report of a case.&lt;/strong&gt; Clin. Genet. 25: 201-204, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6705255/&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;6705255&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1984.tb00486.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="6705255">Silengo et al. (1984)</a> reported a newborn female with a phenotype intermediate between the Neu-Laxova (<a href="/entry/256520">256520</a>) and COFS syndromes. They espoused the notion, stated earlier by <a href="#15" class="mim-tip-reference" title="Preus, M., Fraser, F. C. &lt;strong&gt;The cerebro-oculo-facio-skeletal syndrome.&lt;/strong&gt; Clin. Genet. 5: 294-297, 1974.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4212394/&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;4212394&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1974.tb01696.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="4212394">Preus and Fraser (1974)</a> and by <a href="#21" class="mim-tip-reference" title="Temtamy, S. A., McKusick, V. A. &lt;strong&gt;The Genetics of Hand Malformations.&lt;/strong&gt; New York: Alan R. Liss (pub.) 1978. P. 465."None>Temtamy and McKusick (1978)</a>, that these two separately named syndromes represent different degrees of clinical expressivity of the same autosomal recessive mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6705255+953225+4431498+4212394" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="seeAlso" class="mim-anchor"></a>
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<a href="#Grizzard1980" class="mim-tip-reference" title="Grizzard, W. S., O&#x27;Donnell, J. J., Carey, J. C. &lt;strong&gt;The cerebro-oculo-facio-skeletal syndrome.&lt;/strong&gt; Am. J. Ophthal. 89: 293-298, 1980.">Grizzard et al. (1980)</a>; <a href="#Lurie1976" class="mim-tip-reference" title="Lurie, I. W., Cherstvoy, E. D., Lazjuk, G. I., Nedzved, M. K., Usoev, S. S. &lt;strong&gt;Further evidence for the autosomal-recessive inheritance of the COFS syndrome.&lt;/strong&gt; Clin. Genet. 10: 343-346, 1976.">Lurie et al. (1976)</a>; <a href="#Pena1978" class="mim-tip-reference" title="Pena, S. D. J., Evans, J., Hunter, A. G. W. &lt;strong&gt;COFS syndrome revisited.&lt;/strong&gt; Birth Defects Orig. Art. Ser. XIV(6B): 205-213, 1978.">Pena et al. (1978)</a>; <a href="#Preus1977" class="mim-tip-reference" title="Preus, M., Kaplan, P., Kirkham, T. H. &lt;strong&gt;Renal anomalies and oligohydramnios in the cerebro-oculo-facio-skeletal syndrome.&lt;/strong&gt; Am. J. Dis. Child. 131: 62-64, 1977.">Preus et al. (1977)</a>
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<a id="references"class="mim-anchor"></a>
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
<a id="Del Bigio1997" class="mim-anchor"></a>
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Del Bigio, M. R., Greenberg, C. R., Rorke, L. B., Schnur, R., McDonald-McGinn, D. M., Zackai, E. H.
<strong>Neuropathological findings in eight children with cerebro-oculo-facio-skeletal (COFS) syndrome.</strong>
J. Neuropath. Exp. Neurol. 56: 1147-1157, 1997.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9329459/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9329459</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9329459" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1097/00005072-199710000-00009" target="_blank">Full Text</a>]
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<p class="mim-text-font">
Gershoni-Baruch, R., Ludatscher, R. M., Lichtig, C., Sujov, P., Machoul, I.
<strong>Cerebro-oculo-facio-skeletal syndrome: further delineation.</strong>
Am. J. Med. Genet. 41: 74-77, 1991.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1951466/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1951466</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1951466" 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.1320410119" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="3" class="mim-anchor"></a>
<a id="Grizzard1980" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Grizzard, W. S., O'Donnell, J. J., Carey, J. C.
<strong>The cerebro-oculo-facio-skeletal syndrome.</strong>
Am. J. Ophthal. 89: 293-298, 1980.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7355980/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7355980</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7355980" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1016/0002-9394(80)90127-0" target="_blank">Full Text</a>]
</p>
</div>
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<li>
<a id="4" class="mim-anchor"></a>
<a id="Jaakkola2010" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Jaakkola, E., Mustonen, A., Olsen, P., Miettinen, S., Savuoja, T., Raams, A., Jaspers, N. G. J., Shao, H., Wu, B. L., Ignatius, J.
<strong>ERCC6 founder mutation identified in Finnish patients with COFS syndrome.</strong>
Clin. Genet. 78: 541-547, 2010.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20456449/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20456449</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20456449" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.2010.01424.x" target="_blank">Full Text</a>]
</p>
</div>
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<li>
<a id="5" class="mim-anchor"></a>
<a id="Laugel2008" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Laugel, V., Dalloz, C., Tobias, E. S., Tolmie, J. L., Martin-Coignard, D., Drouin-Garraud, V., Valatannopoulos, V., Sarasin, A., Dollfus, H.
<strong>Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation.</strong>
J. Med. Genet. 45: 564-571, 2008.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18628313/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18628313</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18628313" 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.2007.057141" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="6" class="mim-anchor"></a>
<a id="Lerman-Sagie1987" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Lerman-Sagie, T., Levi, Y., Kidron, D., Grunebaum, M., Nitzan, M.
<strong>Syndrome of osteopetrosis and muscular degeneration associated with cerebro-oculo-facio-skeletal changes.</strong>
Am. J. Med. Genet. 28: 137-142, 1987.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3674107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3674107</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3674107" 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.1320280120" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="7" class="mim-anchor"></a>
<a id="Linna1982" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Linna, S.-L., Finni, K., Simila, S., Kouvalainen, K., Laitinen, J.
<strong>Intracranial calcifications in cerebro-oculo-facio-skeletal (COFS) syndrome.</strong>
Pediat. Radiol. 12: 28-30, 1982.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7063265/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7063265</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7063265" 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/BF01221707" target="_blank">Full Text</a>]
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<a id="8" class="mim-anchor"></a>
<a id="Lowry1971" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Lowry, R. B., MacLean, R., McLean, D. M., Tischler, B.
<strong>Cataracts, microcephaly, kyphosis, and limited joint movement in two siblings: a new syndrome.</strong>
J. Pediat. 79: 282-284, 1971.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5560051/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5560051</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5560051" 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(71)80114-2" target="_blank">Full Text</a>]
</p>
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<a id="9" class="mim-anchor"></a>
<a id="Lurie1976" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Lurie, I. W., Cherstvoy, E. D., Lazjuk, G. I., Nedzved, M. K., Usoev, S. S.
<strong>Further evidence for the autosomal-recessive inheritance of the COFS syndrome.</strong>
Clin. Genet. 10: 343-346, 1976.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/825334/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">825334</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=825334" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.1976.tb00059.x" target="_blank">Full Text</a>]
</p>
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<a id="10" class="mim-anchor"></a>
<a id="Meira2000" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Meira, L. B., Graham, J. M., Jr., Greenberg, C. R., Busch, D. B., Doughty, A. T. B., Ziffer, D. W., Coleman, D. M., Savre-Train, I., Friedberg, E. C.
<strong>Manitoba aboriginal kindred with original cerebro-oculo-facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene.</strong>
Am. J. Hum. Genet. 66: 1221-1228, 2000.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10739753/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10739753</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10739753[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=10739753" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1086/302867" target="_blank">Full Text</a>]
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<a id="11" class="mim-anchor"></a>
<a id="Pena1978" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Pena, S. D. J., Evans, J., Hunter, A. G. W.
<strong>COFS syndrome revisited.</strong>
Birth Defects Orig. Art. Ser. XIV(6B): 205-213, 1978.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/728562/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">728562</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=728562" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<li>
<a id="12" class="mim-anchor"></a>
<a id="Pena1974" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Pena, S. D. J., Shokeir, M. H. K.
<strong>Autosomal recessive cerebro-oculo-facio-skeletal (COFS) syndrome.</strong>
Clin. Genet. 5: 285-293, 1974.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4211825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4211825</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4211825" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.1974.tb01695.x" target="_blank">Full Text</a>]
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<a id="13" class="mim-anchor"></a>
<a id="Pena1974" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Pena, S. D. J., Shokeir, M. H. K.
<strong>Syndrome of camptodactyly, multiple ankyloses, facial anomalies, and pulmonary hypoplasia: a lethal condition.</strong>
J. Pediat. 85: 373-375, 1974.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4431498/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4431498</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4431498" 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(74)80119-8" target="_blank">Full Text</a>]
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<a id="14" class="mim-anchor"></a>
<a id="Pena1976" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Pena, S. D. J., Shokeir, M. H. K.
<strong>Syndrome of camptodactyly, multiple ankyloses, facial anomalies and pulmonary hypoplasia: further delineation and evidence for autosomal recessive inheritance.</strong>
Birth Defects Orig. Art. Ser. XII(5): 201-208, 1976.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/953225/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">953225</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=953225" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<a id="15" class="mim-anchor"></a>
<a id="Preus1974" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Preus, M., Fraser, F. C.
<strong>The cerebro-oculo-facio-skeletal syndrome.</strong>
Clin. Genet. 5: 294-297, 1974.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4212394/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4212394</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4212394" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.1974.tb01696.x" target="_blank">Full Text</a>]
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<a id="16" class="mim-anchor"></a>
<a id="Preus1977" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Preus, M., Kaplan, P., Kirkham, T. H.
<strong>Renal anomalies and oligohydramnios in the cerebro-oculo-facio-skeletal syndrome.</strong>
Am. J. Dis. Child. 131: 62-64, 1977.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/402067/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">402067</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=402067" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1001/archpedi.1977.02120140064010" target="_blank">Full Text</a>]
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<a id="17" class="mim-anchor"></a>
<a id="Shokeir1982" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Shokeir, M. H. K.
<strong>Cerebro-oculo-facioskeletal (COFS) syndrome (Pena-Shokeir syndrome). In: Vinken, P. J.; Bruyn, G. W. (eds.): Handbook of Clinical Neurology. Neurogenetic Directory. Vol. 45. Part II.</strong>
Amsterdam: North Holland (pub.) 1982. Pp. 341-343.
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<a id="18" class="mim-anchor"></a>
<a id="Silengo1984" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Silengo, M. C., Davi, G., Bianco, R., Biagioli, M., Franceschini, P., Cavallo, M., Bussi, G.
<strong>The NEU-COFS (cerebro-oculo-facio-skeletal) syndrome: report of a case.</strong>
Clin. Genet. 25: 201-204, 1984.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6705255/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6705255</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6705255" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.1984.tb00486.x" target="_blank">Full Text</a>]
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<a id="19" class="mim-anchor"></a>
<a id="Smith1982" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Smith, D. W.
<strong>Recognizable Patterns of Human Malformations. (3rd ed.)</strong>
Philadelphia: W. B. Saunders (pub.) 1982. Pp. 136-137.
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<li>
<a id="20" class="mim-anchor"></a>
<a id="Surana1978" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Surana, R. B., Fraga, J. R., Sinkford, S. M.
<strong>The cerebro-oculo-facio-skeletal syndrome.</strong>
Clin. Genet. 13: 486-488, 1978.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/97035/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">97035</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=97035" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.1978.tb01203.x" target="_blank">Full Text</a>]
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<a id="Temtamy1978" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Temtamy, S. A., McKusick, V. A.
<strong>The Genetics of Hand Malformations.</strong>
New York: Alan R. Liss (pub.) 1978. P. 465.
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<a id="22" class="mim-anchor"></a>
<a id="Temtamy1996" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Temtamy, S. A., Meguid, N. A., Mahmoud, A., Afifi, H. H., Gerzawy, A., Zaki, M. S.
<strong>COFS syndrome with familial 1;16 translocation.</strong>
Clin. Genet. 50: 240-243, 1996.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9001808/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9001808</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9001808" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.1996.tb02635.x" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 5/17/2012
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Cassandra L. Kniffin - updated : 10/3/2008<br>Victor A. McKusick - updated : 8/30/2001<br>Victor A. McKusick - updated : 4/13/2000<br>Victor A. McKusick - updated : 3/10/1997
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Creation Date:
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Victor A. McKusick : 6/3/1986
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carol : 02/27/2024
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carol : 02/23/2024<br>carol : 01/29/2020<br>carol : 08/09/2016<br>carol : 08/05/2016<br>carol : 07/09/2016<br>alopez : 9/25/2015<br>ckniffin : 9/23/2015<br>terry : 6/11/2012<br>terry : 5/18/2012<br>carol : 5/17/2012<br>ckniffin : 5/17/2012<br>wwang : 10/7/2008<br>ckniffin : 10/3/2008<br>carol : 7/16/2007<br>alopez : 2/13/2007<br>alopez : 2/12/2007<br>ckniffin : 6/15/2005<br>cwells : 9/20/2001<br>cwells : 9/12/2001<br>terry : 8/30/2001<br>terry : 3/20/2001<br>carol : 5/15/2000<br>carol : 5/15/2000<br>terry : 4/13/2000<br>mark : 3/10/1997<br>terry : 3/5/1997<br>davew : 8/26/1994<br>mimadm : 4/7/1994<br>pfoster : 4/4/1994<br>warfield : 3/30/1994<br>supermim : 3/16/1992<br>carol : 10/29/1991
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<strong>#</strong> 214150
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<h3>
<span class="mim-font">
CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1
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<span class="mim-font">
<em>Alternative titles; symbols</em>
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<h4>
<span class="mim-font">
COFS SYNDROME; COFS<br />
PENA-SHOKEIR SYNDROME, TYPE II
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<span class="mim-text-font">
<strong>ORPHA:</strong> 1466, 191; &nbsp;
<strong>DO:</strong> 0080911; &nbsp;
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<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
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<th>
Phenotype
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Phenotype <br /> MIM number
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<th>
Inheritance
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<th>
Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<tr>
<td>
<span class="mim-font">
10q11.23
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<span class="mim-font">
Cerebrooculofacioskeletal syndrome 1
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<span class="mim-font">
214150
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<span class="mim-font">
Autosomal recessive
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<span class="mim-font">
3
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<span class="mim-font">
ERCC6
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<span class="mim-font">
609413
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<h4>
<span class="mim-font">
<strong>TEXT</strong>
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<span class="mim-text-font">
<p>A number sign (#) is used with this entry because of evidence that cerebrooculofacioskeletal syndrome-1 (COFS1) is caused by homozygous or compound heterozygous mutation in the ERCC6 gene (609413) on chromosome 10q11.</p><p>Cockayne syndrome type B (CSB; 133540) is an allelic disorder.</p>
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<span class="mim-font">
<strong>Description</strong>
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<span class="mim-text-font">
<p>Cerebrooculofacioskeletal syndrome (COFS) is an autosomal recessive progressive neurodegenerative disorder characterized by microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis (summary by Jaakkola et al., 2010). </p><p><strong><em>Genetic Heterogeneity of Cerebrooculofacioskeletal Syndrome</em></strong></p><p>
See also COFS2 (610756), caused by mutation in the ERCC2 gene (126340); COFS3 (616570), caused by mutation in the ERCC5 gene (133530); and COFS4 (610758), caused by mutation in the ERCC1 gene (126380).</p>
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<h4>
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<strong>Clinical Features</strong>
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<p>Pena and Shokeir (1974) observed 10 patients in 3 kindreds with a syndrome composed of microcephaly, hypotonia, failure to thrive, arthrogryposis, eye defects, prominent nose, large ears, overhanging upper lip, micrognathia, widely set nipples, kyphoscoliosis, and osteoporosis. The first 2 kindreds were American Indian with French admixture and much consanguinity in the first of these. Preus and Fraser (1974) described a single case in an offspring of first-cousin parents of Italian extraction. One of Pena and Shokeir's affected sibships (2 affected out of 6 children) had brother-sister parents. Surana et al. (1978) described COFS syndrome in a black American infant. </p><p>Lerman-Sagie et al. (1987) described an infant with COFS manifestations plus radiologic and pathologic findings of osteopetrosis and severe degeneration of skeletal muscles. The muscular changes appeared to be the cause of the flexion contractures present at birth. Gershoni-Baruch et al. (1991) reported the case of an infant born of first-cousin parents who had findings of congenital muscular dystrophy. Laugel et al. (2008) questioned the diagnosis of COFS in the patient reported by Gershoni-Baruch et al. (1991). </p><p>The patients studied by Meira et al. (2000), the surviving boy of a dizygotic male-female twin pair and a girl who was not closely related, were related to the Manitoba aboriginal population group within which COFS syndrome was originally reported by Lowry et al. (1971) and Pena and Shokeir (1974). The twins had microcephaly, deep-set eyes, bilateral microphthalmia and cataracts, overhanging upper lips, and prominent noses, and the boy had undescended testes. They showed failure to thrive, recurrent pneumonias, axial hypotonia, appendicular hypertonia, hyperreflexia, and progressive contractures. Both were considered to have typical COFS syndrome. The girl died at age 5 years. Cranial computed tomography (CT) had shown enlargement of the ventricles and subarachnoid spaces, with calcifications in the periventricular frontal white matter and basal ganglia. Autopsy showed severe neurodegeneration, with markedly reduced brain weight, patchy demyelination in the cerebrum and hindbrain, neuronal loss and gliosis in the cerebral cortex, and pericapillary and parenchymal mineralization in the cortex and basal ganglia; this was case 7 in the study of Del Bigio et al. (1997). The boy showed normal hearing at age 2 years, but profound hearing loss by age 6 years, when he was found to have insulin resistance. At age 7 years he had CT changes similar to those in his sister. He never manifested cutaneous photosensitivity or actinic keratoses, but at age 10 years he had ocular photosensitivity with consistently constricted pupils. The boy died at age 11 years. In the third patient reported by Meira et al. (2000), the diagnosis of COFS syndrome was made at 2 years. The patient was the daughter of aboriginal parents from the same population as the dizygotic twins, although they were not known to be related. She presented at birth with growth deficiency, microcephaly, and bilateral microphthalmia with cataracts. </p><p>Jaakkola et al. (2010) reported a large multigenerational consanguineous Finnish kindred in which 6 individuals had COFS1. Two deceased patients had originally been reported by Linna et al. (1982) as having COFS, 1 of whom had intracranial calcifications. Two patients, a boy and a girl, were reported in detail. Clinical features included failure to thrive, poor growth, lack of psychomotor development with inability to sit independently or speak, and arthrogryposis. Facial dysmorphism included microcephaly, deep-set eyes, cataracts, prominent nasal bridge, micrognathia, large ear pinna, and upper lip overlapping the lower lip. Both also had hearing loss and nystagmus; 1 developed seizures. Brain MRI showed hypoplasia of the corpus callosum, ventriculomegaly, and delayed myelination. The boy had cryptorchidism. The other family members had a similar phenotype. All patients died between ages 3 and 9 years. Cultured fibroblasts from the 2 patients reported in detail showed 3.6- to 5.4-fold hypersensitivity to UV irradiation due to a defect in transcription-coupled nucleotide excision repair (TC-NER). Complementation analysis showed that the gene responsible was ERCC6. </p>
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<h4>
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<strong>Diagnosis</strong>
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<span class="mim-text-font">
<p>Laugel et al. (2008) proposed that diagnosis of COFS syndrome should require the following criteria: congenital microcephaly, congenital cataracts and/or microphthalmia, arthrogryposis, severe developmental delay, severe postnatal growth failure, and facial dysmorphism with prominent nasal root and/or overhanging upper lip, as well as a DNA repair defect in the transcription coupled repair pathway. </p>
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<h4>
<span class="mim-font">
<strong>Cytogenetics</strong>
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<span class="mim-text-font">
<p>Temtamy et al. (1996) described a 3-year-old Egyptian girl, the only child of healthy first-cousin parents, with phenotypic abnormalities of the COFS syndrome. She had microcephaly, bilateral congenital cataract, nystagmus, long ear pinnae, camptodactyly, prominent heels, coxa valga, kyphosis, and flexure contracture of the elbows and knees. CT scan showed bilateral symmetric intracranial calcifications. In addition, she had an apparently balanced translocation: 46,XX,t(1;16)(q23;q13) in all cells. The translocation was transmitted from the phenotypically normal mother who was a mosaic for the translocation. Temtamy et al. (1996) suggested that a gene for COFS may be located on 1q23 or 16q13. </p>
</span>
<div>
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</div>
<div>
<h4>
<span class="mim-font">
<strong>Inheritance</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>The transmission pattern of COFS in the family reported by Meira et al. (2000) was consistent with autosomal recessive inheritance. </p>
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<div>
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</div>
<div>
<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Meira et al. (2000) presented evidence that 2 probands related to the Manitoba aboriginal population group within which COFS syndrome was originally reported by Lowry et al. (1971) and Pena and Shokeir (1974) had cellular phenotypes indistinguishable from those in Cockayne syndrome cells. Furthermore, the patients had an identical homozygous mutation in the ERCC6 gene (609413.0007). </p><p>In 3 unrelated patients with COFS syndrome, Laugel et al. (2008) identified biallelic mutations in the ERCC6 gene (see, e.g., 609413.0012-609413.0014). All patients showed classic clinical features of the disorder and cultured fibroblasts showed defective DNA repair. </p><p>In 3 of 6 patients with COFS1 from a consanguineous Finnish family, Jaakkola et al. (2010) identified a homozygous mutation in the ERCC6 gene (R1288X; 609413.0015). Fibroblast studies showed that the mutation caused a severe reduction of the encoded protein to 20% of controls. Genealogic analysis revealed that common ancestors for all the patients lived in the 18th century in a small village in northern Finland, consistent with a founder effect. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Nomenclature</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Shokeir (1982) suggested that there are two types of Pena-Shokeir syndrome: type I (208150), which shows multiple ankyloses, camptodactyly, facial anomalies and pulmonary hypoplasia (Pena and Shokeir (1974, 1976)); and type II, also known as the COFS syndrome. In the third edition of Recognizable Patterns of Human Malformations, Smith (1982) also suggested that COFS be called Pena-Shokeir syndrome II. Because of potential confusion, this seems best avoided and the designation COFS used instead. Silengo et al. (1984) reported a newborn female with a phenotype intermediate between the Neu-Laxova (256520) and COFS syndromes. They espoused the notion, stated earlier by Preus and Fraser (1974) and by Temtamy and McKusick (1978), that these two separately named syndromes represent different degrees of clinical expressivity of the same autosomal recessive mutation. </p>
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>See Also:</strong>
</span>
</h4>
<span class="mim-text-font">
Grizzard et al. (1980); Lurie et al. (1976); Pena et al. (1978);
Preus et al. (1977)
</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">
Del Bigio, M. R., Greenberg, C. R., Rorke, L. B., Schnur, R., McDonald-McGinn, D. M., Zackai, E. H.
<strong>Neuropathological findings in eight children with cerebro-oculo-facio-skeletal (COFS) syndrome.</strong>
J. Neuropath. Exp. Neurol. 56: 1147-1157, 1997.
[PubMed: 9329459]
[Full Text: https://doi.org/10.1097/00005072-199710000-00009]
</p>
</li>
<li>
<p class="mim-text-font">
Gershoni-Baruch, R., Ludatscher, R. M., Lichtig, C., Sujov, P., Machoul, I.
<strong>Cerebro-oculo-facio-skeletal syndrome: further delineation.</strong>
Am. J. Med. Genet. 41: 74-77, 1991.
[PubMed: 1951466]
[Full Text: https://doi.org/10.1002/ajmg.1320410119]
</p>
</li>
<li>
<p class="mim-text-font">
Grizzard, W. S., O'Donnell, J. J., Carey, J. C.
<strong>The cerebro-oculo-facio-skeletal syndrome.</strong>
Am. J. Ophthal. 89: 293-298, 1980.
[PubMed: 7355980]
[Full Text: https://doi.org/10.1016/0002-9394(80)90127-0]
</p>
</li>
<li>
<p class="mim-text-font">
Jaakkola, E., Mustonen, A., Olsen, P., Miettinen, S., Savuoja, T., Raams, A., Jaspers, N. G. J., Shao, H., Wu, B. L., Ignatius, J.
<strong>ERCC6 founder mutation identified in Finnish patients with COFS syndrome.</strong>
Clin. Genet. 78: 541-547, 2010.
[PubMed: 20456449]
[Full Text: https://doi.org/10.1111/j.1399-0004.2010.01424.x]
</p>
</li>
<li>
<p class="mim-text-font">
Laugel, V., Dalloz, C., Tobias, E. S., Tolmie, J. L., Martin-Coignard, D., Drouin-Garraud, V., Valatannopoulos, V., Sarasin, A., Dollfus, H.
<strong>Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation.</strong>
J. Med. Genet. 45: 564-571, 2008.
[PubMed: 18628313]
[Full Text: https://doi.org/10.1136/jmg.2007.057141]
</p>
</li>
<li>
<p class="mim-text-font">
Lerman-Sagie, T., Levi, Y., Kidron, D., Grunebaum, M., Nitzan, M.
<strong>Syndrome of osteopetrosis and muscular degeneration associated with cerebro-oculo-facio-skeletal changes.</strong>
Am. J. Med. Genet. 28: 137-142, 1987.
[PubMed: 3674107]
[Full Text: https://doi.org/10.1002/ajmg.1320280120]
</p>
</li>
<li>
<p class="mim-text-font">
Linna, S.-L., Finni, K., Simila, S., Kouvalainen, K., Laitinen, J.
<strong>Intracranial calcifications in cerebro-oculo-facio-skeletal (COFS) syndrome.</strong>
Pediat. Radiol. 12: 28-30, 1982.
[PubMed: 7063265]
[Full Text: https://doi.org/10.1007/BF01221707]
</p>
</li>
<li>
<p class="mim-text-font">
Lowry, R. B., MacLean, R., McLean, D. M., Tischler, B.
<strong>Cataracts, microcephaly, kyphosis, and limited joint movement in two siblings: a new syndrome.</strong>
J. Pediat. 79: 282-284, 1971.
[PubMed: 5560051]
[Full Text: https://doi.org/10.1016/s0022-3476(71)80114-2]
</p>
</li>
<li>
<p class="mim-text-font">
Lurie, I. W., Cherstvoy, E. D., Lazjuk, G. I., Nedzved, M. K., Usoev, S. S.
<strong>Further evidence for the autosomal-recessive inheritance of the COFS syndrome.</strong>
Clin. Genet. 10: 343-346, 1976.
[PubMed: 825334]
[Full Text: https://doi.org/10.1111/j.1399-0004.1976.tb00059.x]
</p>
</li>
<li>
<p class="mim-text-font">
Meira, L. B., Graham, J. M., Jr., Greenberg, C. R., Busch, D. B., Doughty, A. T. B., Ziffer, D. W., Coleman, D. M., Savre-Train, I., Friedberg, E. C.
<strong>Manitoba aboriginal kindred with original cerebro-oculo-facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene.</strong>
Am. J. Hum. Genet. 66: 1221-1228, 2000.
[PubMed: 10739753]
[Full Text: https://doi.org/10.1086/302867]
</p>
</li>
<li>
<p class="mim-text-font">
Pena, S. D. J., Evans, J., Hunter, A. G. W.
<strong>COFS syndrome revisited.</strong>
Birth Defects Orig. Art. Ser. XIV(6B): 205-213, 1978.
[PubMed: 728562]
</p>
</li>
<li>
<p class="mim-text-font">
Pena, S. D. J., Shokeir, M. H. K.
<strong>Autosomal recessive cerebro-oculo-facio-skeletal (COFS) syndrome.</strong>
Clin. Genet. 5: 285-293, 1974.
[PubMed: 4211825]
[Full Text: https://doi.org/10.1111/j.1399-0004.1974.tb01695.x]
</p>
</li>
<li>
<p class="mim-text-font">
Pena, S. D. J., Shokeir, M. H. K.
<strong>Syndrome of camptodactyly, multiple ankyloses, facial anomalies, and pulmonary hypoplasia: a lethal condition.</strong>
J. Pediat. 85: 373-375, 1974.
[PubMed: 4431498]
[Full Text: https://doi.org/10.1016/s0022-3476(74)80119-8]
</p>
</li>
<li>
<p class="mim-text-font">
Pena, S. D. J., Shokeir, M. H. K.
<strong>Syndrome of camptodactyly, multiple ankyloses, facial anomalies and pulmonary hypoplasia: further delineation and evidence for autosomal recessive inheritance.</strong>
Birth Defects Orig. Art. Ser. XII(5): 201-208, 1976.
[PubMed: 953225]
</p>
</li>
<li>
<p class="mim-text-font">
Preus, M., Fraser, F. C.
<strong>The cerebro-oculo-facio-skeletal syndrome.</strong>
Clin. Genet. 5: 294-297, 1974.
[PubMed: 4212394]
[Full Text: https://doi.org/10.1111/j.1399-0004.1974.tb01696.x]
</p>
</li>
<li>
<p class="mim-text-font">
Preus, M., Kaplan, P., Kirkham, T. H.
<strong>Renal anomalies and oligohydramnios in the cerebro-oculo-facio-skeletal syndrome.</strong>
Am. J. Dis. Child. 131: 62-64, 1977.
[PubMed: 402067]
[Full Text: https://doi.org/10.1001/archpedi.1977.02120140064010]
</p>
</li>
<li>
<p class="mim-text-font">
Shokeir, M. H. K.
<strong>Cerebro-oculo-facioskeletal (COFS) syndrome (Pena-Shokeir syndrome). In: Vinken, P. J.; Bruyn, G. W. (eds.): Handbook of Clinical Neurology. Neurogenetic Directory. Vol. 45. Part II.</strong>
Amsterdam: North Holland (pub.) 1982. Pp. 341-343.
</p>
</li>
<li>
<p class="mim-text-font">
Silengo, M. C., Davi, G., Bianco, R., Biagioli, M., Franceschini, P., Cavallo, M., Bussi, G.
<strong>The NEU-COFS (cerebro-oculo-facio-skeletal) syndrome: report of a case.</strong>
Clin. Genet. 25: 201-204, 1984.
[PubMed: 6705255]
[Full Text: https://doi.org/10.1111/j.1399-0004.1984.tb00486.x]
</p>
</li>
<li>
<p class="mim-text-font">
Smith, D. W.
<strong>Recognizable Patterns of Human Malformations. (3rd ed.)</strong>
Philadelphia: W. B. Saunders (pub.) 1982. Pp. 136-137.
</p>
</li>
<li>
<p class="mim-text-font">
Surana, R. B., Fraga, J. R., Sinkford, S. M.
<strong>The cerebro-oculo-facio-skeletal syndrome.</strong>
Clin. Genet. 13: 486-488, 1978.
[PubMed: 97035]
[Full Text: https://doi.org/10.1111/j.1399-0004.1978.tb01203.x]
</p>
</li>
<li>
<p class="mim-text-font">
Temtamy, S. A., McKusick, V. A.
<strong>The Genetics of Hand Malformations.</strong>
New York: Alan R. Liss (pub.) 1978. P. 465.
</p>
</li>
<li>
<p class="mim-text-font">
Temtamy, S. A., Meguid, N. A., Mahmoud, A., Afifi, H. H., Gerzawy, A., Zaki, M. S.
<strong>COFS syndrome with familial 1;16 translocation.</strong>
Clin. Genet. 50: 240-243, 1996.
[PubMed: 9001808]
[Full Text: https://doi.org/10.1111/j.1399-0004.1996.tb02635.x]
</p>
</li>
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Cassandra L. Kniffin - updated : 5/17/2012<br>Cassandra L. Kniffin - updated : 10/3/2008<br>Victor A. McKusick - updated : 8/30/2001<br>Victor A. McKusick - updated : 4/13/2000<br>Victor A. McKusick - updated : 3/10/1997
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Victor A. McKusick : 6/3/1986
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