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Entry
- #101400 - SAETHRE-CHOTZEN SYNDROME; SCS
- OMIM
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<span class="h4">#101400</span>
<br />
<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/101400"><strong>Clinical Synopsis</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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<a href="#clinicalFeatures">Clinical Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#otherFeatures">Other Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#heterogeneity">Heterogeneity</a>
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<a href="#cytogenetics">Cytogenetics</a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#history">History</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=SAETHRE-CHOTZEN SYNDROME" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div style="display: table-cell;">Animal Models</div>
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</a>
</span>
</span>
</div>
<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.alliancegenome.org/disease/DOID:14768" 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/101400" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
<div><a href="https://omia.org/OMIA001593/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
<div><a href="https://wormbase.org/resources/disease/DOID:14768" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
</div>
</div>
</div>
</div>
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</div>
<span>
<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
&nbsp;
</span>
</span>
</div>
<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>SNOMEDCT:</strong> 83015004<br />
<strong>ORPHA:</strong> 794<br />
<strong>DO:</strong> 14768<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>
101400
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
SAETHRE-CHOTZEN SYNDROME; SCS
</span>
</h3>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
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<div>
<h4>
<span class="mim-font">
ACROCEPHALOSYNDACTYLY, TYPE III; ACS3<br />
ACS III<br />
CHOTZEN SYNDROME<br />
ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLY
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
<div>
<a id="includedTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
Other entities represented in this entry:
</span>
</p>
</div>
<div>
<span class="h3 mim-font">
SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, INCLUDED
</span>
</div>
<div>
<span class="h4 mim-font">
BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY, INCLUDED; BPES3, FORMERLY, INCLUDED
</span>
</div>
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<div>
<br />
</div>
</div>
<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/7/93?start=-3&limit=10&highlight=93">
7p21.1
</a>
</span>
</td>
<td>
<span class="mim-font">
Saethre-Chotzen syndrome with or without eyelid anomalies
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/101400"> 101400 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
TWIST1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/601622"> 601622 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/10/618?start=-3&limit=10&highlight=618">
10q26.13
</a>
</span>
</td>
<td>
<span class="mim-font">
Saethre-Chotzen syndrome
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/101400"> 101400 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
FGFR2
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/176943"> 176943 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/101400" class="btn btn-warning" role="button"> Clinical Synopsis </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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&nbsp;
<div class="btn-group">
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
PheneGene Graphics <span class="caret"></span>
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<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/101400" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/101400" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
</ul>
</div>
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GROWTH </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Height </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Short stature <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/422065006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">422065006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237836003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237836003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237837007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237837007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E34.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E34.31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/R62.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">R62.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/783.43" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">783.43</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349588&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349588</a>, <a href="https://bioportal.bioontology.org/search?q=C0013336&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013336</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003510" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003510</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004322</a>]</span><br />
</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">
- Brachycephaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13649004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13649004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221356&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221356</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000248" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000248</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000248" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000248</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9ccc4d161e106e4d5543286323f007ce" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Brachycephaly-Large-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=9ccc4d161e106e4d5543286323f007ce&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 /> -
Acrocephaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48069004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48069004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0030044&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0030044</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000263</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000263</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=95e02059dac249fc32e95380b6a286cf" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Turricephaly-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=95e02059dac249fc32e95380b6a286cf&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">
- Flat face <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853241&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853241</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012368" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012368</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012368" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012368</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9ba328482ffd2d39f0d1071965725b03" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Face,Flat-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=9ba328482ffd2d39f0d1071965725b03&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 /> -
High, flat forehead <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1863372&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1863372</a>]</span><br /> -
Low frontal hairline <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1842366&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1842366</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000294" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000294</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000294" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000294</a>]</span><br /> -
Maxillary hypoplasia <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M26.02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M26.02</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.03" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.03</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240310&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240310</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000327" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000327</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000327" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000327</a>]</span><br /> -
Facial asymmetry <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13851000119109" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13851000119109</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/15253005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">15253005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1306710&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1306710</a>, <a href="https://bioportal.bioontology.org/search?q=C0546952&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0546952</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000324" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000324</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000324" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000324</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Ears </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Long and prominent ear crus <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1863373&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1863373</a>]</span><br /> -
Small ears <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/35045004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">35045004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q17.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q17.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/744.23" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">744.23</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0152423&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0152423</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008551" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008551</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008551" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008551</a>]</span><br /> -
Low-set ears <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95515009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95515009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q17.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q17.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239234&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239234</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000369" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000369</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000369" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000369</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9f0956aaa4fd45c34f94336afbbdc931" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Ear,Low-Set-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=9f0956aaa4fd45c34f94336afbbdc931&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 /> -
Apical cartilage deformity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2676209&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2676209</a>]</span><br /> -
Deafness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/343087000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">343087000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H91.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H91.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018772&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018772</a>, <a href="https://bioportal.bioontology.org/search?q=C0011053&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011053</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000365" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000365</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000365" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000365</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">
- Shallow orbits <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1865244&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1865244</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000586" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000586</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000586" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000586</a>]</span><br /> -
Hypertelorism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22006008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22006008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/376.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">376.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020534&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020534</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Eyes,Widely_Spaced-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a&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 /> -
Plagiocephaly (asymmetry of orbits) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1863374&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1863374</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/21850008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">21850008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.3</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001357" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001357</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=08b211e117df47040a00e5d6bf2db04c" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Plagiocephaly-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=08b211e117df47040a00e5d6bf2db04c&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 /> -
Strabismus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22066006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22066006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.40</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038379&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038379</a>, <a href="https://bioportal.bioontology.org/search?q=C2020541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2020541</a>, <a href="https://bioportal.bioontology.org/search?q=C1423541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1423541</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000486" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000486</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000486" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000486</a>]</span><br /> -
Buphthalmos <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204113001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204113001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/413728006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">413728006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q15.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q15.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/743.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.20</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/743.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020302&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020302</a>, <a href="https://bioportal.bioontology.org/search?q=C4551507&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551507</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000557" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000557</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000557" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000557</a>]</span><br /> -
Ptosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/11934000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">11934000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29696001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29696001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.409" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.409</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.40</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/374.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">374.3</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/374.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">374.30</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0005745&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0005745</a>, <a href="https://bioportal.bioontology.org/search?q=C0033377&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0033377</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000508</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000508</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=76abf29563d4adc64d21da86221224b1" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Ptosis-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=76abf29563d4adc64d21da86221224b1&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 /> -
S-shaped blepharoptosis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2676210&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2676210</a>]</span><br /> -
Lacrimal duct abnormalities <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1858567&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858567</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011481" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011481</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">
- Thin, long, pointed nose <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1863375&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1863375</a>]</span><br /> -
Beaked nose <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240538&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240538</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000444" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000444</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000444" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000444</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Mouth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Narrow palate <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1398312&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1398312</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000189" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000189</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000189" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000189</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=e39db66f262e5c44e3a381147eb7f8db" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Palate,Narrow-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=e39db66f262e5c44e3a381147eb7f8db&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Cleft palate <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/63567004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">63567004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/87979003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">87979003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/749.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/749.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837218&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837218</a>, <a href="https://bioportal.bioontology.org/search?q=C2981150&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2981150</a>, <a href="https://bioportal.bioontology.org/search?q=C2240378&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2240378</a>, <a href="https://bioportal.bioontology.org/search?q=C0008925&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0008925</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000175" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000175</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000175" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000175</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> CARDIOVASCULAR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Heart </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Congenital heart defect <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13213009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13213009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q24.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q24.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/746.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">746.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018798&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018798</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001627" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001627</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001627" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001627</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Vascular </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Intracranial hypertension due to multisutural cranial fusion <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1863385&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1863385</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271719001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271719001</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002516" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002516</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKELETAL </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Skull </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Late closing fontanelles <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/82779003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">82779003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0277828&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0277828</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000270</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000270</a>]</span><br /> -
Craniosynostosis of coronal, lambdoid, and/or metopic sutures <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1863377&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1863377</a>]</span><br /> -
Acrocephaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48069004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48069004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0030044&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0030044</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000263</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000263</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=95e02059dac249fc32e95380b6a286cf" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Turricephaly-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=95e02059dac249fc32e95380b6a286cf&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 /> -
Parietal foramina <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/718099006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">718099006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29307005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29307005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/11240000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">11240000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0222706&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0222706</a>, <a href="https://bioportal.bioontology.org/search?q=C1868598&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868598</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002697" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002697</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0004423" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004423</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002697" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002697</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">
- Small ilia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1863378&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1863378</a>]</span><br /> -
Large ischia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1863379&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1863379</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">
- Radioulnar synostosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/33313004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">33313004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q74.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q74.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/755.53" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">755.53</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0158761&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158761</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002974" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002974</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002974" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002974</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">
- Syndactyly, mild (often 2nd-3rd fingers) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4478146&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4478146</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/373413006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">373413006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q70.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q70.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q70" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q70</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/755.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">755.1</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001159" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001159</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=bcc47de729f2f227ecf8427f5adf6d12" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Foot,Osseous_Syndactyly_of-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=bcc47de729f2f227ecf8427f5adf6d12&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Bifid terminal phalanges (digits 2 and 3) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4478147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4478147</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009883" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009883</a>]</span><br /> -
Brachydactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43476002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43476002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221357&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221357</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001156" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001156</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001156" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001156</a>]</span><br /> -
Fifth finger clinodactyly <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850049&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850049</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004209" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004209</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004209" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004209</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Feet </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Absent first metatarsal <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1863382&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1863382</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010104" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010104</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010104" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010104</a>]</span><br /> -
Syndactyly (often 3rd-4th toes) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1863383&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1863383</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/373413006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">373413006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q70.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q70.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q70" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q70</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/755.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">755.1</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001159" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001159</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=bcc47de729f2f227ecf8427f5adf6d12" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Foot,Osseous_Syndactyly_of-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=bcc47de729f2f227ecf8427f5adf6d12&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 /> -
Hallux valgus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/122480009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">122480009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/65358001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">65358001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/53842005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">53842005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M20.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M20.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M20.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M20.10</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/735.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">735.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0265656&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265656</a>, <a href="https://bioportal.bioontology.org/search?q=C0018536&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018536</a>, <a href="https://bioportal.bioontology.org/search?q=C0158458&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158458</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001822" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001822</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001822" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001822</a>]</span><br />
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- Increased risk of breast cancer in women <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2676211&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2676211</a>]</span><br />
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- Few patients with mild to moderate mental retardation<br /> -
Variable expressivity <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861403&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861403</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003828" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003828</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003828" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003828</a>]</span><br /> -
Incidence of 1 in 25,000 to 1 in 50,000 newborns<br /> -
Phenotypic overlap with Muenke syndrome (<a href="/entry/602849">602849</a>) due to a mutation in the FGFR3 gene (P250R, <a href="/entry/134934#0014">134934.0014</a>)<br />
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- Caused by mutation in the TWIST transcription factor gene (TWIST, <a href="/entry/601622#0001">601622.0001</a>)<br />
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that the Saethre-Chotzen syndrome (SCS) is caused by heterozygous mutation in the TWIST1 gene (<a href="/entry/601622">601622</a>) on chromosome 7p21.</p>
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<p>Saethre-Chotzen syndrome (SCS) is characterized by craniosynostosis, facial dysmorphism, and hand and foot abnormalities. Coronal synostosis resulting in brachycephaly is the most frequent cranial abnormality observed, and the most common facial features are asymmetry, hypertelorism, and maxillary hypoplasia. Other features include high forehead, low frontal hairline, late-closing fontanel, strabismus, ptosis, lacrimal duct stenosis, deviated nasal septum, small low-set posteriorly rotated ears with prominent crus, and hearing loss. The limb anomalies consist of radioulnar synostosis, brachydactyly, cutaneous syndactyly, and hallux valgus. Patients also exhibit short stature and vertebral fusion, and mild to moderate mental retardation has been noted in some cases. Inter- and intrafamilial variability is significant, with some patients having fusion of other sutures, or no apparent craniosynostosis but abnormal skull morphology. The degree of syndactyly is also variable, and digital abnormalities can be absent (<a href="#16" class="mim-tip-reference" title="Jabs, E. W. &lt;strong&gt;TWIST1 and the Saethre-Chotzen syndrome. In: Epstein, C. J.; Erickson, R. P.; Wynshaw-Boris, A. (eds.): Inborn Errors of Development. The Molecular Basis of Clinical Disorders of Morphogenesis. (2nd ed.).&lt;/strong&gt; New York: Oxford Univerisity Press 2008. Pp. 474-481."None>Jabs, 2008</a>).</p><p>See also Muenke syndrome (<a href="/entry/602849">602849</a>), which has a phenotype overlapping that of SCS and is caused by a mutation in the FGFR3 gene (P250R; <a href="/entry/134934#0014">134934.0014</a>). In addition, at least 1 individual with a phenotype of SCS has been described with a mutation in the FGFR2 gene (<a href="/entry/176943#0023">176943.0023</a>).</p>
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<strong>Clinical Features</strong>
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<p>In the family described by <a href="#37" class="mim-tip-reference" title="Saethre, M. &lt;strong&gt;Ein Beitrag zum Turmschaedelproblem (Pathogenese, Erblichkeit und Symptomatologie).&lt;/strong&gt; Dtsch. Z. Nervenheilk. 119: 533-555, 1931."None>Saethre (1931)</a>, a mother, 2 daughters, and probably other maternal relatives showed mild acrocephaly, asymmetry of the skull, and partial soft tissue syndactyly of fingers 2 and 3 and toes 3 and 4. <a href="#8" class="mim-tip-reference" title="Chotzen, F. &lt;strong&gt;Eine eigenartige familiaere Entwicklungsstoerung (Akrocephalosyndaktylie, Dysostosis craniofacialis und Hypertelorismus).&lt;/strong&gt; Mschr. Kinderheilk. 55: 97-122, 1932."None>Chotzen (1932)</a> found identical malformations in a father and 2 sons. <a href="#2" class="mim-tip-reference" title="Bartsocas, C. S., Weber, A. L., Crawford, J. D. &lt;strong&gt;Acrocephalosyndactyly type 3: Chotzen&#x27;s syndrome.&lt;/strong&gt; J. Pediat. 77: 267-272, 1970.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4393456/&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;4393456&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(70)80334-1&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="4393456">Bartsocas et al. (1970)</a> described a Lithuanian kindred living in the United States in which 10 persons in 3 generations were affected, with several instances of male-to-male transmission. <a href="#39" class="mim-tip-reference" title="Waardenburg, P. J., Franceschetti, A., Klein, D. &lt;strong&gt;Genetics and Ophthalmology. Vol 1.&lt;/strong&gt; Springfield, Ill.: Charles C Thomas 1961. Pp. 301-354."None>Waardenburg et al. (1961)</a> reported asymmetry of the skull and orbits (plagiocephaly), strabismus, and a thin, long, pointed nose in 6 generations of a kindred. Some affected persons had bifid terminal phalanges of digits 2 and 3 and absence of the first metatarsal. Cleft palate, hydrophthalmos, cardiac malformation, and contractures of elbows and knees were present in some. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4393456" 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="#1" class="mim-tip-reference" title="Aase, J. M., Smith, D. W. &lt;strong&gt;Facial asymmetry and abnormalities of palms and ears: a dominantly inherited developmental syndrome.&lt;/strong&gt; J. Pediat. 76: 928-930, 1970.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5444587/&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;5444587&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(70)80378-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="5444587">Aase and Smith (1970)</a> described a syndrome comprising asymmetry of the face (hypoplasia of the left side), unusually shaped ear with prominent crus (see their Figure 2), and simian crease in 5 members of 3 generations (with 1 instance of male-to-male transmission). They pointed out similarities to and differences from the asymmetry of the face and skull with abnormalities of the digits described by <a href="#39" class="mim-tip-reference" title="Waardenburg, P. J., Franceschetti, A., Klein, D. &lt;strong&gt;Genetics and Ophthalmology. Vol 1.&lt;/strong&gt; Springfield, Ill.: Charles C Thomas 1961. Pp. 301-354."None>Waardenburg et al. (1961)</a>. <a href="#14" class="mim-tip-reference" title="Gorlin, R. J. &lt;strong&gt;Personal Communication.&lt;/strong&gt; Minneapolis, Minn. 1971."None>Gorlin (1971)</a> thought the syndrome described by <a href="#1" class="mim-tip-reference" title="Aase, J. M., Smith, D. W. &lt;strong&gt;Facial asymmetry and abnormalities of palms and ears: a dominantly inherited developmental syndrome.&lt;/strong&gt; J. Pediat. 76: 928-930, 1970.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5444587/&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;5444587&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(70)80378-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="5444587">Aase and Smith (1970)</a> was Chotzen syndrome. <a href="#7" class="mim-tip-reference" title="Carter, C. O., Till, K., Fraser, V., Coffey, R. &lt;strong&gt;A family study of craniosynostosis, with probable recognition of a distinct syndrome.&lt;/strong&gt; J. Med. Genet. 19: 280-285, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7120316/&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;7120316&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.19.4.280&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="7120316">Carter et al. (1982)</a> recognized 9 patients, including familial cases. Like <a href="#1" class="mim-tip-reference" title="Aase, J. M., Smith, D. W. &lt;strong&gt;Facial asymmetry and abnormalities of palms and ears: a dominantly inherited developmental syndrome.&lt;/strong&gt; J. Pediat. 76: 928-930, 1970.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5444587/&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;5444587&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(70)80378-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="5444587">Aase and Smith (1970)</a>, they recognized a long and prominent ear crus as a valuable sign. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5444587+7120316" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#21" class="mim-tip-reference" title="Kurczynski, T. W., Casperson, S. M. &lt;strong&gt;Auralcephalosyndactyly: a new hereditary craniosynostosis syndrome.&lt;/strong&gt; J. Med. Genet. 25: 491-493, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2845086/&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;2845086&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.25.7.491&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="2845086">Kurczynski and Casperson (1988)</a> described mother and daughter with craniosynostosis and symmetrical syndactyly involving the fourth and fifth toes. In addition, both had a short columella and small pinnae. <a href="#21" class="mim-tip-reference" title="Kurczynski, T. W., Casperson, S. M. &lt;strong&gt;Auralcephalosyndactyly: a new hereditary craniosynostosis syndrome.&lt;/strong&gt; J. Med. Genet. 25: 491-493, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2845086/&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;2845086&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.25.7.491&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="2845086">Kurczynski and Casperson (1988)</a> concluded that this represented a new form of acrocephalosyndactyly and suggested the designation auralcephalosyndactyly (<a href="/entry/109050">109050</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2845086" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#22" class="mim-tip-reference" title="Legius, E., Fryns, J. P., Van den Berghe, H. &lt;strong&gt;Auralcephalosyndactyly: a new craniosynostosis syndrome or a variant of the Saethre-Chotzen syndrome?&lt;/strong&gt; J. Med. Genet. 26: 522-524, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2769726/&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;2769726&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.26.8.522&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="2769726">Legius et al. (1989)</a> described mother and son with bilateral symmetrical syndactyly of the third, fourth and fifth toes, mild craniosynostosis, and small pinnae. In addition, the mother had fusion of 2 cervical vertebrae and partial duplication of the first metatarsal. Furthermore, the distal phalanges of both great toes were bifid. These skeletal changes in combination with cutaneous syndactyly of the toes, abnormal auricles, and acrocephaly have been described in the Saethre-Chotzen syndrome (<a href="#18" class="mim-tip-reference" title="Kopysc, Z., Stanska, M., Ryzko, J., Kulczyk, B. &lt;strong&gt;The Saethre-Chotzen syndrome with partial bifid of the distal phalanges of the great toes: observations of three cases in one family.&lt;/strong&gt; Hum. Genet. 56: 195-204, 1980.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7450776/&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;7450776&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00295694&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="7450776">Kopysc et al., 1980</a>) and also in the Robinow-Sorauf syndrome (<a href="/entry/180750">180750</a>) (<a href="#7" class="mim-tip-reference" title="Carter, C. O., Till, K., Fraser, V., Coffey, R. &lt;strong&gt;A family study of craniosynostosis, with probable recognition of a distinct syndrome.&lt;/strong&gt; J. Med. Genet. 19: 280-285, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7120316/&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;7120316&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.19.4.280&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="7120316">Carter et al., 1982</a>). <a href="#22" class="mim-tip-reference" title="Legius, E., Fryns, J. P., Van den Berghe, H. &lt;strong&gt;Auralcephalosyndactyly: a new craniosynostosis syndrome or a variant of the Saethre-Chotzen syndrome?&lt;/strong&gt; J. Med. Genet. 26: 522-524, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2769726/&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;2769726&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.26.8.522&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="2769726">Legius et al. (1989)</a> concluded that the Saethre-Chotzen, auralcephalosyndactyly, and Robinow-Sorauf syndromes may be somewhat different expressions of the same dominant gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7450776+2769726+7120316" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#27" class="mim-tip-reference" title="Marini, R., Temple, K., Chitty, L., Genet, S., Baraitser, M. &lt;strong&gt;Pitfalls in counselling: the craniosynostoses.&lt;/strong&gt; J. Med. Genet. 28: 117-121, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2002481/&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;2002481&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.28.2.117&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="2002481">Marini et al. (1991)</a> presented a family illustrating the mild and easily missed expression of the gene in a parent. <a href="#30" class="mim-tip-reference" title="Niemann-Seyde, S. C., Eber, S. W., Zoll, B. &lt;strong&gt;Saethre-Chotzen syndrome (ACS III) in four generations.&lt;/strong&gt; Clin. Genet. 40: 271-276, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1756600/&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;1756600&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1991.tb03095.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="1756600">Niemann-Seyde et al. (1991)</a> observed ACS III in 9 members of 4 generations of a family; 5 of them were severely affected. <a href="#36" class="mim-tip-reference" title="Russo, R., D&#x27;Armiento, M., Vecchione, R. &lt;strong&gt;Renal tubular dysgenesis and very large cranial fontanels in a family with acrocephalosyndactyly S.C. type.&lt;/strong&gt; Am. J. Med. Genet. 39: 482-485, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1877630/&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;1877630&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320390423&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="1877630">Russo et al. (1991)</a> described a case of renotubular dysgenesis (<a href="/entry/267430">267430</a>) in an infant who had widely patent cranial fontanels and whose father and sister showed acrocephalosyndactyly of the Saethre-Chotzen type. This was probably a coincidental association between a recessive disorder and a dominant disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1877630+2002481+1756600" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Chun, K., Teebi, A. S., Jung, J. H., Kennedy, S., Laframboise, R., Meschino, W. S., Nakabayashi, K., Scherer, S. W., Roy, P. N., Teshima, I. &lt;strong&gt;Genetic analysis of patients with the Saethre-Chotzen phenotype.&lt;/strong&gt; Am. J. Med. Genet. 110: 136-143, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12116251/&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;12116251&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.10400&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="12116251">Chun et al. (2002)</a> found that 3 patients clinically identified as having the Saethre-Chotzen phenotype, 2 with a TWIST mutation and 1 with a TWIST deletion, had the unusual feature of anal malposition/stenosis. In addition, <a href="#9" class="mim-tip-reference" title="Chun, K., Teebi, A. S., Jung, J. H., Kennedy, S., Laframboise, R., Meschino, W. S., Nakabayashi, K., Scherer, S. W., Roy, P. N., Teshima, I. &lt;strong&gt;Genetic analysis of patients with the Saethre-Chotzen phenotype.&lt;/strong&gt; Am. J. Med. Genet. 110: 136-143, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12116251/&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;12116251&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.10400&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="12116251">Chun et al. (2002)</a> stated that the photograph shown of the patient reported by <a href="#32" class="mim-tip-reference" title="Paznekas, W. A., Cunningham, M. L., Howard, T. D., Korf, B. R., Lipson, M. H., Grix, A. W., Feingold, M., Goldberg, R., Borochowitz, Z., Aleck, K., Mulliken, J., Yin, M., Jabs, E. W. &lt;strong&gt;Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.&lt;/strong&gt; Am. J. Hum. Genet. 62: 1370-1380, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9585583/&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;9585583&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/301855&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="9585583">Paznekas et al. (1998)</a> with a 2-amino-acid deletion in the FGFR2 gene (<a href="/entry/176943#0023">176943.0023</a>) was at variance with Saethre-Chotzen syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9585583+12116251" 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="#20" class="mim-tip-reference" title="Kress, W., Schropp, C., Lieb, G., Petersen, B., Busse-Ratzka, M., Kunz, J., Reinhart, E., Schafer, W.-D., Sold, J., Hoppe, F., Pahnke, J., Trusen, A., Sorensen, N., Krauss, J., Collmann, H. &lt;strong&gt;Saethre-Chotzen syndrome caused by TWIST1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome.&lt;/strong&gt; Europ. J. Hum. Genet. 14: 39-48, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16251895/&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;16251895&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/sj.ejhg.5201507&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="16251895">Kress et al. (2006)</a> identified mutations in the TWIST1 gene in 71 patients from 39 of 124 pedigrees with coronal suture synostosis. Fourteen novel mutations were identified. By comparison of clinical features with 42 patients from 24 kindreds with Muenke syndrome and the FGFR3 P250R mutation, classic SCS could be distinguished from the Muenke phenotype by presence of low-set frontal hairline, gross ptosis of the eyelids, subnormal ear length, dilated parietal foramina, interdigital webbing, and broad great toe with bifid distal phalanx. Patients with SCS also tended to have intracranial hypertension as a consequence of early progressive multisutural fusion and normal mental development; those with Muenke syndrome tended to have mental delay and sensorineural hearing loss. <a href="#20" class="mim-tip-reference" title="Kress, W., Schropp, C., Lieb, G., Petersen, B., Busse-Ratzka, M., Kunz, J., Reinhart, E., Schafer, W.-D., Sold, J., Hoppe, F., Pahnke, J., Trusen, A., Sorensen, N., Krauss, J., Collmann, H. &lt;strong&gt;Saethre-Chotzen syndrome caused by TWIST1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome.&lt;/strong&gt; Europ. J. Hum. Genet. 14: 39-48, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16251895/&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;16251895&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/sj.ejhg.5201507&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="16251895">Kress et al. (2006)</a> concluded that SCS and Muenke should be considered separate syndromes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16251895" 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="#38" class="mim-tip-reference" title="Sahlin, P., Windh, P., Lauritzen, C., Emanuelsson, M., Gronberg, H., Stenman, G. &lt;strong&gt;Women with Saethre-Chotzen syndrome are at increased risk of breast cancer.&lt;/strong&gt; Genes Chromosomes Cancer 46: 656-660, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17437280/&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;17437280&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/gcc.20449&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="17437280">Sahlin et al. (2007)</a> found that 15 (52%) of 29 women over the age of 25 with Saethre-Chotzen syndrome from 15 families developed breast cancer. At least 4 patients developed breast cancer before age 40, and 5 between 40 and 50. The authors concluded that breast cancer is a previously unrecognized symptom of the disorder and further suggested that the TWIST1 gene may be a breast cancer susceptibility gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17437280" 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>The transmission pattern of Saethre-Chotzen syndrome in the families reported by <a href="#15" class="mim-tip-reference" title="Howard, T. D., Paznekas, W. A., Green, E. D., Chiang, L. C., Ma, N., Ortiz De Luna, R. I., Delgado, C. G., Gonzalez-Ramos, M., Kline, A. D., Jabs, E. W. &lt;strong&gt;Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome.&lt;/strong&gt; Nature Genet. 15: 36-41, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8988166/&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;8988166&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng0197-36&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="8988166">Howard et al. (1997)</a> and <a href="#12" class="mim-tip-reference" title="El Ghouzzi, V., Le Merrer, M., Perrin-Schmitt, F., Lajeunie, E., Benit, P., Renier, D., Bourgeois, P., Bolcato-Bellemin, A.-L., Munnich, A., Bonaventure, J. &lt;strong&gt;Mutations of the TWIST gene in the Saethre-Chotzen syndrome.&lt;/strong&gt; Nature Genet. 15: 42-46, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8988167/&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;8988167&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng0197-42&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="8988167">El Ghouzzi et al. (1997)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8988166+8988167" 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="#6" class="mim-tip-reference" title="Brueton, L. A., van Herwerden, L., Chotai, K. A., Winter, R. M. &lt;strong&gt;The mapping of a gene for craniosynostosis: evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p.&lt;/strong&gt; J. Med. Genet. 29: 681-685, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1433226/&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;1433226&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.29.10.681&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="1433226">Brueton et al. (1992)</a> presented molecular genetic linkage studies suggesting localization of the gene for the Saethre-Chotzen syndrome on distal 7p. Sixteen families with involvement in 2 or more generations were available for study. One of their families (number 16) had characteristics suggesting the Jackson-Weiss syndrome (<a href="/entry/123150">123150</a>). Excluding this family and pedigree number 15 which had a Pfeiffer-like syndrome (<a href="/entry/101600">101600</a>), <a href="#6" class="mim-tip-reference" title="Brueton, L. A., van Herwerden, L., Chotai, K. A., Winter, R. M. &lt;strong&gt;The mapping of a gene for craniosynostosis: evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p.&lt;/strong&gt; J. Med. Genet. 29: 681-685, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1433226/&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;1433226&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.29.10.681&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="1433226">Brueton et al. (1992)</a> found tight linkage to D7S370 (maximum lod = 3.00 at theta = 0.00) and with D7S10 (maximum lod = 2.39 at theta = 0.00). The relationship to other forms of craniosynostosis with hand anomalies that map to 7p remains to be determined. In linkage analysis on 6 ACS III families using 5 CA repeat polymorphisms from 7p, <a href="#26" class="mim-tip-reference" title="Malcolm, S., Rose, C. P. S., van Herwerden, L., Reardon, W., Brueton, L., Weissenbach, J., Winter, R. M. &lt;strong&gt;Mapping of Saethre-Chotzen syndrome (ACS III) to 7p21. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 53 (suppl.): A136 only, 1993."None>Malcolm et al. (1993)</a> found evidence suggesting location between D7S493 and D7S516. Two patients, a father and daughter, were found with ACS III and a balanced translocation t(7;10)(p21;q21.2). <a href="#34" class="mim-tip-reference" title="Reid, C. S., McMorrow, L. E., McDonald-McGinn, D. M., Grace, K. J., Ramos, F. J., Zackai, E. H., Cohen, M. M., Jr., Jabs, E. W. &lt;strong&gt;Saethre-Chotzen syndrome with familial translocation at chromosome 7p22.&lt;/strong&gt; Am. J. Med. Genet. 47: 637-639, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8266989/&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;8266989&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320470511&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="8266989">Reid et al. (1993)</a> reported 2 additional patients, a male infant and his mother, with an apparently balanced translocation t(2;7)(p23;p22). <a href="#23" class="mim-tip-reference" title="Lewanda, A. F., Cohen, M. M., Jr., Jackson, C. E., Taylor, E. W., Li, X., Beloff, M., Day, D., Clarren, S. K., Ortiz, R., Garcia, C., Hauselman, E., Figueroa, A., Wulfsberg, E., Wilson, M., Warman, M. L., Padwa, B. L., Whiteman, D. A. H., Mulliken, J. B., Jabs, E. W. &lt;strong&gt;Genetic heterogeneity among craniosynostosis syndromes: mapping the Saethre-Chotzen syndrome locus between D7S513 and D7S516 and exclusion of Jackson-Weiss and Crouzon syndrome loci from 7p.&lt;/strong&gt; Genomics 19: 115-119, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8188211/&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;8188211&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1006/geno.1994.1020&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="8188211">Lewanda et al. (1994)</a> confirmed linkage of the Saethre-Chotzen syndrome to 7p. The tightest linkage was to D7S493; linkage and haplotype analyses refined the location of the gene to the region between D7S513 and D7S516. On the basis of 4 patients with apparently balanced translocations at 7p21.2, <a href="#35" class="mim-tip-reference" title="Rose, C. S. P., King, A. A. J., Summers, D., Palmer, R., Yang, S., Wilkie, A. O. M., Reardon, W., Malcolm, S., Winter, R. M. &lt;strong&gt;Localization of the genetic locus for Saethre-Chotzen syndrome to a 6 cM region of chromosome 7 using four cases with apparently balanced translocations at 7p21.2.&lt;/strong&gt; Hum. Molec. Genet. 3: 1405-1408, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7987323/&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;7987323&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/3.8.1405&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="7987323">Rose et al. (1994)</a> narrowed the localization of the ACS3 gene to a 6-cM region. By fluorescence in situ hybridization, they showed that the breakpoints were situated within the region flanked by genetic markers D7S488 and D7S493 in distal 7p. <a href="#23" class="mim-tip-reference" title="Lewanda, A. F., Cohen, M. M., Jr., Jackson, C. E., Taylor, E. W., Li, X., Beloff, M., Day, D., Clarren, S. K., Ortiz, R., Garcia, C., Hauselman, E., Figueroa, A., Wulfsberg, E., Wilson, M., Warman, M. L., Padwa, B. L., Whiteman, D. A. H., Mulliken, J. B., Jabs, E. W. &lt;strong&gt;Genetic heterogeneity among craniosynostosis syndromes: mapping the Saethre-Chotzen syndrome locus between D7S513 and D7S516 and exclusion of Jackson-Weiss and Crouzon syndrome loci from 7p.&lt;/strong&gt; Genomics 19: 115-119, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8188211/&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;8188211&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1006/geno.1994.1020&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="8188211">Lewanda et al. (1994)</a> used linkage and haplotype analyses to narrow the disease locus to an 8-cM region between D7S664 and D7S507. The tightest linkage was to D7S664; maximum lod = 7.16 at theta = 0.00. Studying the t(2;7)(p23;p22) in a patient with Saethre-Chotzen syndrome, <a href="#23" class="mim-tip-reference" title="Lewanda, A. F., Cohen, M. M., Jr., Jackson, C. E., Taylor, E. W., Li, X., Beloff, M., Day, D., Clarren, S. K., Ortiz, R., Garcia, C., Hauselman, E., Figueroa, A., Wulfsberg, E., Wilson, M., Warman, M. L., Padwa, B. L., Whiteman, D. A. H., Mulliken, J. B., Jabs, E. W. &lt;strong&gt;Genetic heterogeneity among craniosynostosis syndromes: mapping the Saethre-Chotzen syndrome locus between D7S513 and D7S516 and exclusion of Jackson-Weiss and Crouzon syndrome loci from 7p.&lt;/strong&gt; Genomics 19: 115-119, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8188211/&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;8188211&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1006/geno.1994.1020&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="8188211">Lewanda et al. (1994)</a> found that the D7S664 locus lay distal to the 7p22 breakpoint, whereas the D7S507 locus was deleted from the translocation chromosome. <a href="#40" class="mim-tip-reference" title="Wilkie, A. O. M., Yang, S. P., Summers, D., Poole, M. D., Reardon, W., Winter, R. M. &lt;strong&gt;Saethre-Chotzen syndrome associated with balanced translocations involving 7p21: three further families.&lt;/strong&gt; J. Med. Genet. 32: 174-180, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7783164/&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;7783164&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.32.3.174&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="7783164">Wilkie et al. (1995)</a> reported 3 further families, each segregating a different reciprocal chromosomal translocation involving 7p21. A total of 7 apparently balanced carriers were identified and all manifest features of the Saethre-Chotzen syndrome, although only 2 had overt craniosynostosis. In 1 family, the carriers were immediately recognized by their unusual ears, and clefts of the hard or soft palate were present in all 3 families. The abnormally configured ear was pictured in 1 member from each of 3 generations. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7987323+1433226+8188211+7783164+8266989" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#25" class="mim-tip-reference" title="Ma, H. W., Lajeunie, E., de Parseval, N., Munnich, A., Renier, D., Le Merrer, M. &lt;strong&gt;Possible genetic heterogeneity in the Saethre-Chotzen syndrome.&lt;/strong&gt; Hum. Genet. 98: 228-232, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8698349/&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;8698349&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s004390050197&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="8698349">Ma et al. (1996)</a> studied 3 further families to provide additional support to the localization of a disease gene between D7S493 and D7S664. There was a suspicion that at least 2 disease-causing genes may map to 7p, one distal and the other proximal to D7S488. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8698349" 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>See craniosynostosis (<a href="/entry/123100">123100</a>) for well-established mapping to 7p21.3-p21.2 on the basis of structural alterations in that region. The gene for Greig cephalopolysyndactyly syndrome (GCPS; <a href="/entry/175700">175700</a>) appears to be located at 7p13.</p>
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<p><a href="#15" class="mim-tip-reference" title="Howard, T. D., Paznekas, W. A., Green, E. D., Chiang, L. C., Ma, N., Ortiz De Luna, R. I., Delgado, C. G., Gonzalez-Ramos, M., Kline, A. D., Jabs, E. W. &lt;strong&gt;Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome.&lt;/strong&gt; Nature Genet. 15: 36-41, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8988166/&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;8988166&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng0197-36&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="8988166">Howard et al. (1997)</a> and <a href="#12" class="mim-tip-reference" title="El Ghouzzi, V., Le Merrer, M., Perrin-Schmitt, F., Lajeunie, E., Benit, P., Renier, D., Bourgeois, P., Bolcato-Bellemin, A.-L., Munnich, A., Bonaventure, J. &lt;strong&gt;Mutations of the TWIST gene in the Saethre-Chotzen syndrome.&lt;/strong&gt; Nature Genet. 15: 42-46, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8988167/&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;8988167&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng0197-42&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="8988167">El Ghouzzi et al. (1997)</a> demonstrated that the Saethre-Chotzen syndrome results from mutations in the TWIST1 gene (<a href="/entry/601622">601622</a>). They were prompted to evaluate the TWIST gene, which encodes a basic helix-loop-helix transcription factor, because its expression pattern and mutant phenotypes in Drosophila and mouse are consistent with the SCS phenotype in humans. <a href="#15" class="mim-tip-reference" title="Howard, T. D., Paznekas, W. A., Green, E. D., Chiang, L. C., Ma, N., Ortiz De Luna, R. I., Delgado, C. G., Gonzalez-Ramos, M., Kline, A. D., Jabs, E. W. &lt;strong&gt;Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome.&lt;/strong&gt; Nature Genet. 15: 36-41, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8988166/&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;8988166&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng0197-36&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="8988166">Howard et al. (1997)</a> mapped the human TWIST gene by PCR analysis of somatic cell hybrids to 7p22-p21 in a region homologous to the region of mouse chromosome 12 where the murine TWIST gene had been mapped. They assigned it to a specific YAC which was known to contain the breakpoint of a chromosome translocation in 1 Saethre-Chotzen syndrome case. <a href="#5" class="mim-tip-reference" title="Bourgeois, P., Stoetzel, C., Bolcato-Bellemin, A. L., Mattei, M. G., Perrin-Schmitt, F. &lt;strong&gt;The human H-twist gene is located at 7p21 and encodes a B-HLH protein that is 96% similar to its murine M-twist counterpart.&lt;/strong&gt; Mammalian Genome 7: 915-917, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8995765/&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;8995765&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s003359900269&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="8995765">Bourgeois et al. (1996)</a> had previously cloned human TWIST and mapped it to 7p21. <a href="#15" class="mim-tip-reference" title="Howard, T. D., Paznekas, W. A., Green, E. D., Chiang, L. C., Ma, N., Ortiz De Luna, R. I., Delgado, C. G., Gonzalez-Ramos, M., Kline, A. D., Jabs, E. W. &lt;strong&gt;Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome.&lt;/strong&gt; Nature Genet. 15: 36-41, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8988166/&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;8988166&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng0197-36&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="8988166">Howard et al. (1997)</a> identified nonsense, missense, insertion, and deletion mutations in TWIST in patients with Saethre-Chotzen syndrome. <a href="#12" class="mim-tip-reference" title="El Ghouzzi, V., Le Merrer, M., Perrin-Schmitt, F., Lajeunie, E., Benit, P., Renier, D., Bourgeois, P., Bolcato-Bellemin, A.-L., Munnich, A., Bonaventure, J. &lt;strong&gt;Mutations of the TWIST gene in the Saethre-Chotzen syndrome.&lt;/strong&gt; Nature Genet. 15: 42-46, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8988167/&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;8988167&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng0197-42&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="8988167">El Ghouzzi et al. (1997)</a> reported 21-bp insertions and nonsense mutations in the TWIST gene in 7 probands with SCS. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8995765+8988166+8988167" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#32" class="mim-tip-reference" title="Paznekas, W. A., Cunningham, M. L., Howard, T. D., Korf, B. R., Lipson, M. H., Grix, A. W., Feingold, M., Goldberg, R., Borochowitz, Z., Aleck, K., Mulliken, J., Yin, M., Jabs, E. W. &lt;strong&gt;Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.&lt;/strong&gt; Am. J. Hum. Genet. 62: 1370-1380, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9585583/&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;9585583&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/301855&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="9585583">Paznekas et al. (1998)</a> screened 32 unrelated patients with features of Saethre-Chotzen syndrome for mutations in the TWIST, FGFR2 (<a href="/entry/176943">176943</a>), and FGFR3 (<a href="/entry/134934">134934</a>) genes. Nine novel and 3 recurrent TWIST mutations were found in 12 families. Seven families were found to have the FGFR3 P250R mutation (<a href="/entry/134934#0014">134934.0014</a>), and 1 individual was found to have a VV269-270 deletion of the FGFR2 gene (<a href="/entry/176943#0023">176943.0023</a>). The detection rate for TWIST or FGFR mutations, including 5 previously reported patients with TWIST mutations, was 68% in Saethre-Chotzen syndrome patients. More than 35 different TWIST mutations had been reported. The most common phenotypic features, present in more than one-third of Saethre-Chotzen patients with TWIST mutations, were coronal synostosis, brachycephaly, low frontal hairline, facial asymmetry, ptosis, hypertelorism, broad great toes, and clinodactyly. Significant intra- and interfamilial phenotypic variability was present for either TWIST or FGFR mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9585583" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Chun, K., Teebi, A. S., Jung, J. H., Kennedy, S., Laframboise, R., Meschino, W. S., Nakabayashi, K., Scherer, S. W., Roy, P. N., Teshima, I. &lt;strong&gt;Genetic analysis of patients with the Saethre-Chotzen phenotype.&lt;/strong&gt; Am. J. Med. Genet. 110: 136-143, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12116251/&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;12116251&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.10400&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="12116251">Chun et al. (2002)</a> investigated 11 patients clinically identified as having the Saethre-Chotzen phenotype. Four were found to carry the FGFR3 P250R mutation, 3 were found to be heterozygous for different novel mutations of TWIST, and 2 were found to have a deletion of 1 copy of the entire TWIST gene. Developmental delay was a distinguishing feature of the patients with deletions of TWIST; see CYTOGENETICS section. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12116251" 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="heterogeneity" class="mim-anchor"></a>
<h4 href="#mimHeterogeneityFold" id="mimHeterogeneityToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Heterogeneity</strong>
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<p><strong><em>Saethre-Chotzen Syndrome with Eyelid Anomalies</em></strong></p><p>
In a large Indian family reported by <a href="#28" class="mim-tip-reference" title="Maw, M., Kar, B., Biswas, J., Biswas, P., Nancarrow, D., Denton, M., Bridges, R., Kumaramanickavel, G., Badrinath, S. S. &lt;strong&gt;Linkage of blepharophimosis syndrome in a large Indian pedigree to chromosome 7p.&lt;/strong&gt; Hum. Molec. Genet. 5: 2049-2054, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8968762/&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;8968762&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/5.12.2049&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="8968762">Maw et al. (1996)</a> in which BPES (<a href="/entry/110100">110100</a>) was segregating, <a href="#11" class="mim-tip-reference" title="Dollfus, H., Kumaramanickavel, G., Biswas, P., Stoetzel, C., Quillet, R., Denton, M., Maw, M., Perrin-Schmitt, F. &lt;strong&gt;Identification of a new TWIST mutation (7p21) with variable eyelid manifestations supports locus homogeneity of BPES at 3q22. (Letter)&lt;/strong&gt; J. Med. Genet. 38: 470-472, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11474656/&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;11474656&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.38.7.470&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="11474656">Dollfus et al. (2001)</a> found that affected members carried a novel 'stop' mutation in the TWIST gene, gly28 to ter (<a href="/entry/601622#0011">601622.0011</a>). This form of BPES, which showed linkage to chromosome 7p, had been known as BPES3. After clinical reevaluation of all members of the family, some of whom were not born at the time of the initial linkage analysis, <a href="#10" class="mim-tip-reference" title="Dollfus, H., Biswas, P., Kumaramanickavel, G., Stoetzel, C., Quillet, R., Biswas, J., Lajeunie, E., Renier, D., Perrin-Schmitt, F. &lt;strong&gt;Saethre-Chotzen syndrome: notable intrafamilial phenotypic variability in a large family with Q28X TWIST mutation.&lt;/strong&gt; Am. J. Med. Genet. 109: 218-225, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11977182/&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;11977182&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.10349&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="11977182">Dollfus et al. (2002)</a> concluded that the phenotypic expression was compatible with Saethre-Chotzen syndrome, with remarkable phenotypic variability. Fifteen of 16 family members examined had moderate to severe ptosis. Eyelid features were the hallmark of the disease for 12 members of the family, suggesting that mutations in TWIST may lead to a phenotype with mainly palpebral features and no craniostenosis. <a href="#10" class="mim-tip-reference" title="Dollfus, H., Biswas, P., Kumaramanickavel, G., Stoetzel, C., Quillet, R., Biswas, J., Lajeunie, E., Renier, D., Perrin-Schmitt, F. &lt;strong&gt;Saethre-Chotzen syndrome: notable intrafamilial phenotypic variability in a large family with Q28X TWIST mutation.&lt;/strong&gt; Am. J. Med. Genet. 109: 218-225, 2002.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11977182/&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;11977182&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.10349&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="11977182">Dollfus et al. (2002)</a> pointed to the previous observations of similar phenotypic variability and eyelid malformation in transgenic twist-null heterozygous mice. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8968762+11474656+11977182" 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="cytogenetics" class="mim-anchor"></a>
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<strong>Cytogenetics</strong>
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<p><a href="#41" class="mim-tip-reference" title="Zackai, E. H., Breg, W. R. &lt;strong&gt;Ring chromosome 7 with variable phenotypic expression.&lt;/strong&gt; Cytogenet. Cell Genet. 12: 40-48, 1973.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4145271/&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;4145271&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1159/000130436&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="4145271">Zackai and Breg (1973)</a> described a child who had unicoronal synostosis, unilateral ptosis, short stature, microcephaly, simian crease, developmental delay, and a ring chromosome 7. <a href="#42" class="mim-tip-reference" title="Zackai, E. H., Stolle, C. A. &lt;strong&gt;A new twist: some patients with Saethre-Chotzen syndrome have a microdeletion syndrome. (Editorial)&lt;/strong&gt; Am. J. Hum. Genet. 63: 1277-1281, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9792855/&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;9792855&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/302125&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="9792855">Zackai and Stolle (1998)</a> reported results that provided an explanation for that patient's findings. Using a combination of techniques, including analysis of microsatellite markers, FISH, and Southern blot analysis, <a href="#17" class="mim-tip-reference" title="Johnson, D., Horsley, S. W., Moloney, D. M., Oldridge, M., Twigg, S. R. F., Walsh, S., Barrow, M., Njolstad, P. R., Kunz, J., Ashworth, G. J., Wall, S. A., Kearney, L., Wilkie, A. O. M. &lt;strong&gt;A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1.&lt;/strong&gt; Am. J. Hum. Genet. 63: 1282-1293, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9792856/&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;9792856&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/302122&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="9792856">Johnson et al. (1998)</a> determined that a significant proportion of patients with Saethre-Chotzen syndrome had deletions in 7p21.1 that encompass the TWIST gene. Furthermore, patients with large (megabase-sized) deletions in this region have significant learning difficulties in addition to the clinical features of Saethre-Chotzen syndrome, which suggested that such mutations define a new microdeletion syndrome. The findings refined the molecular tools for diagnosis of Saethre-Chotzen syndrome and provided an explanation for at least some of the phenotypic variability that can confound clinical diagnosis of this disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9792856+9792855+4145271" 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="diagnosis" class="mim-anchor"></a>
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<strong>Diagnosis</strong>
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<p><a href="#17" class="mim-tip-reference" title="Johnson, D., Horsley, S. W., Moloney, D. M., Oldridge, M., Twigg, S. R. F., Walsh, S., Barrow, M., Njolstad, P. R., Kunz, J., Ashworth, G. J., Wall, S. A., Kearney, L., Wilkie, A. O. M. &lt;strong&gt;A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1.&lt;/strong&gt; Am. J. Hum. Genet. 63: 1282-1293, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9792856/&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;9792856&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/302122&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="9792856">Johnson et al. (1998)</a> found facial asymmetry, low frontal hairline, and ptosis to be the most helpful for identifying patients with Saethre-Chotzen syndrome in the absence of pathognomonic features such as 2,3 syndactyly of fingers and duplicated halluces. Craniosynostosis and Saethre-Chotzen syndrome may be unicoronal or bicoronal; metopic suture fusion is found in some cases, but sagittal suture fusion is rare. <a href="#42" class="mim-tip-reference" title="Zackai, E. H., Stolle, C. A. &lt;strong&gt;A new twist: some patients with Saethre-Chotzen syndrome have a microdeletion syndrome. (Editorial)&lt;/strong&gt; Am. J. Hum. Genet. 63: 1277-1281, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9792855/&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;9792855&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/302125&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="9792855">Zackai and Stolle (1998)</a> suggested that it is useful to perform analysis for the P250R mutation in the FGFR3 gene in cases of unicoronal synostosis in which other findings of Saethre-Chotzen syndrome are absent. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9792855+9792856" 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="history" class="mim-anchor"></a>
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<strong>History</strong>
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<p><a href="#33" class="mim-tip-reference" title="Reardon, W., Winter, R. M. &lt;strong&gt;Saethre-Chotzen syndrome.&lt;/strong&gt; J. Med. Genet. 31: 393-396, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8064818/&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;8064818&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.31.5.393&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="8064818">Reardon and Winter (1994)</a> wrote as follows: 'Clinical geneticists are inured to anecdotes recounting odd presentations of dysmorphic syndromes. Saethre-Chotzen syndrome is a case in point. A consultation for schizophrenia led to the first report from the Norwegian psychiatrist, Haakon Saethre...' (<a href="#37" class="mim-tip-reference" title="Saethre, M. &lt;strong&gt;Ein Beitrag zum Turmschaedelproblem (Pathogenese, Erblichkeit und Symptomatologie).&lt;/strong&gt; Dtsch. Z. Nervenheilk. 119: 533-555, 1931."None>Saethre, 1931</a>). <a href="#8" class="mim-tip-reference" title="Chotzen, F. &lt;strong&gt;Eine eigenartige familiaere Entwicklungsstoerung (Akrocephalosyndaktylie, Dysostosis craniofacialis und Hypertelorismus).&lt;/strong&gt; Mschr. Kinderheilk. 55: 97-122, 1932."None>Chotzen (1932)</a> reported a father and 2 sons with the syndrome that came to carry his name. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8064818" 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="#42" class="mim-tip-reference" title="Zackai, E. H., Stolle, C. A. &lt;strong&gt;A new twist: some patients with Saethre-Chotzen syndrome have a microdeletion syndrome. (Editorial)&lt;/strong&gt; Am. J. Hum. Genet. 63: 1277-1281, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9792855/&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;9792855&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/302125&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="9792855">Zackai and Stolle (1998)</a> reviewed the history of this disorder beginning with the Norwegian psychiatrist Haakon Saethre (1931) and the German psychiatrist F. Chotzen (1932), and continuing with the premolecular nosology, particularly the landmark paper of <a href="#31" class="mim-tip-reference" title="Pantke, O. A., Cohen, M. M., Jr., Witkop, C. J., Jr., Feingold, M., Schaumann, B., Pantke, H. C., Gorlin, R. J. &lt;strong&gt;The Saethre-Chotzen syndrome.&lt;/strong&gt; Birth Defects Orig. Art. Ser. XI(2): 190-225, 1975.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1227525/&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;1227525&lt;/a&gt;]" pmid="1227525">Pantke et al. (1975)</a>, and the molecular characterization through linkage studies and translocation identification, leading to positional cloning, identification of a candidate gene, and the finding of mutations in that gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1227525+9792855" 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>See Also:</strong>
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<span class="mim-text-font">
<a href="#Bianchi1981" class="mim-tip-reference" title="Bianchi, D. W., Cirillo-Silengo, M., Luzzatti, L., Greenstein, R. M. &lt;strong&gt;Interstitial deletion of the short arm of chromosome 7 without craniosynostosis.&lt;/strong&gt; Clin. Genet. 19: 456-461, 1981.">Bianchi et al. (1981)</a>; <a href="#Bianchi1985" class="mim-tip-reference" title="Bianchi, E., Arico, M., Podesta, A. F., Grana, M., Fiori, P., Beluffi, G. &lt;strong&gt;A family with the Saethre-Chotzen syndrome.&lt;/strong&gt; Am. J. Med. Genet. 22: 649-658, 1985.">Bianchi et al. (1985)</a>; <a href="#Escobar1977" class="mim-tip-reference" title="Escobar, V., Brandt, I. K., Bixler, D. &lt;strong&gt;Unusual association of Saethre-Chotzen syndrome and congenital adrenal hyperplasia.&lt;/strong&gt; Clin. Genet. 11: 365-371, 1977.">Escobar et al. (1977)</a>; <a href="#Kreiborg1972" class="mim-tip-reference" title="Kreiborg, S., Pruzansky, S., Pashayan, H. &lt;strong&gt;The Saethre-Chotzen syndrome.&lt;/strong&gt; Teratology 6: 287-294, 1972.">Kreiborg et al. (1972)</a>; <a href="#Lewanda1994" class="mim-tip-reference" title="Lewanda, A. F., Green, E. D., Weissenbach, J., Jerald, H., Taylor, E., Summar, M. L., Phillips, J. A., III, Cohen, M., Feingold, M., Mouradian, W., Clarren, S. K., Jabs, E. W. &lt;strong&gt;Evidence that the Saethre-Chotzen syndrome locus lies between D7S664 and D7S507, by genetic analysis and detection of a microdeletion in a patient.&lt;/strong&gt; Am. J. Hum. Genet. 55: 1195-1201, 1994.">Lewanda et al. (1994)</a>; <a href="#McKeon-Kern1977" class="mim-tip-reference" title="McKeon-Kern, C., Mamunes, P. &lt;strong&gt;A case of Saethre-Chotzen syndrome.&lt;/strong&gt; Med. Coll. Va. Quart. 13(4): 186-188, 1977.">McKeon-Kern and
Mamunes (1977)</a>
</span>
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<a id="references"class="mim-anchor"></a>
<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>REFERENCES</strong>
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</h4>
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</div>
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Aase, J. M., Smith, D. W.
<strong>Facial asymmetry and abnormalities of palms and ears: a dominantly inherited developmental syndrome.</strong>
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[<a href="https://doi.org/10.1016/s0022-3476(70)80378-x" target="_blank">Full Text</a>]
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Bartsocas, C. S., Weber, A. L., Crawford, J. D.
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[<a href="https://doi.org/10.1016/s0022-3476(70)80334-1" target="_blank">Full Text</a>]
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<a id="Bianchi1981" class="mim-anchor"></a>
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Bianchi, D. W., Cirillo-Silengo, M., Luzzatti, L., Greenstein, R. M.
<strong>Interstitial deletion of the short arm of chromosome 7 without craniosynostosis.</strong>
Clin. Genet. 19: 456-461, 1981.
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[<a href="https://doi.org/10.1111/j.1399-0004.1981.tb02064.x" target="_blank">Full Text</a>]
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<a id="4" class="mim-anchor"></a>
<a id="Bianchi1985" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Bianchi, E., Arico, M., Podesta, A. F., Grana, M., Fiori, P., Beluffi, G.
<strong>A family with the Saethre-Chotzen syndrome.</strong>
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[<a href="https://doi.org/10.1002/ajmg.1320220402" target="_blank">Full Text</a>]
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<a id="Bourgeois1996" class="mim-anchor"></a>
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<p class="mim-text-font">
Bourgeois, P., Stoetzel, C., Bolcato-Bellemin, A. L., Mattei, M. G., Perrin-Schmitt, F.
<strong>The human H-twist gene is located at 7p21 and encodes a B-HLH protein that is 96% similar to its murine M-twist counterpart.</strong>
Mammalian Genome 7: 915-917, 1996.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8995765/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8995765</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8995765" 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/s003359900269" target="_blank">Full Text</a>]
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<a id="Brueton1992" class="mim-anchor"></a>
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<p class="mim-text-font">
Brueton, L. A., van Herwerden, L., Chotai, K. A., Winter, R. M.
<strong>The mapping of a gene for craniosynostosis: evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1433226/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1433226</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1433226" 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.29.10.681" target="_blank">Full Text</a>]
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Carter, C. O., Till, K., Fraser, V., Coffey, R.
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[<a href="https://doi.org/10.1136/jmg.19.4.280" target="_blank">Full Text</a>]
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Chotzen, F.
<strong>Eine eigenartige familiaere Entwicklungsstoerung (Akrocephalosyndaktylie, Dysostosis craniofacialis und Hypertelorismus).</strong>
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Chun, K., Teebi, A. S., Jung, J. H., Kennedy, S., Laframboise, R., Meschino, W. S., Nakabayashi, K., Scherer, S. W., Roy, P. N., Teshima, I.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12116251/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12116251</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12116251" 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.10400" target="_blank">Full Text</a>]
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Dollfus, H., Biswas, P., Kumaramanickavel, G., Stoetzel, C., Quillet, R., Biswas, J., Lajeunie, E., Renier, D., Perrin-Schmitt, F.
<strong>Saethre-Chotzen syndrome: notable intrafamilial phenotypic variability in a large family with Q28X TWIST mutation.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11977182/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11977182</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11977182" 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.10349" target="_blank">Full Text</a>]
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Dollfus, H., Kumaramanickavel, G., Biswas, P., Stoetzel, C., Quillet, R., Denton, M., Maw, M., Perrin-Schmitt, F.
<strong>Identification of a new TWIST mutation (7p21) with variable eyelid manifestations supports locus homogeneity of BPES at 3q22. (Letter)</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11474656/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11474656</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11474656" 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.38.7.470" target="_blank">Full Text</a>]
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El Ghouzzi, V., Le Merrer, M., Perrin-Schmitt, F., Lajeunie, E., Benit, P., Renier, D., Bourgeois, P., Bolcato-Bellemin, A.-L., Munnich, A., Bonaventure, J.
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[<a href="https://doi.org/10.1038/ng0197-42" target="_blank">Full Text</a>]
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Escobar, V., Brandt, I. K., Bixler, D.
<strong>Unusual association of Saethre-Chotzen syndrome and congenital adrenal hyperplasia.</strong>
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[<a href="https://doi.org/10.1111/j.1399-0004.1977.tb01328.x" target="_blank">Full Text</a>]
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Howard, T. D., Paznekas, W. A., Green, E. D., Chiang, L. C., Ma, N., Ortiz De Luna, R. I., Delgado, C. G., Gonzalez-Ramos, M., Kline, A. D., Jabs, E. W.
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[<a href="https://doi.org/10.1038/ng0197-36" target="_blank">Full Text</a>]
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<strong>TWIST1 and the Saethre-Chotzen syndrome. In: Epstein, C. J.; Erickson, R. P.; Wynshaw-Boris, A. (eds.): Inborn Errors of Development. The Molecular Basis of Clinical Disorders of Morphogenesis. (2nd ed.).</strong>
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Johnson, D., Horsley, S. W., Moloney, D. M., Oldridge, M., Twigg, S. R. F., Walsh, S., Barrow, M., Njolstad, P. R., Kunz, J., Ashworth, G. J., Wall, S. A., Kearney, L., Wilkie, A. O. M.
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[<a href="https://doi.org/10.1086/302122" target="_blank">Full Text</a>]
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<a id="Kopysc1980" class="mim-anchor"></a>
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<strong>The Saethre-Chotzen syndrome with partial bifid of the distal phalanges of the great toes: observations of three cases in one family.</strong>
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[<a href="https://doi.org/10.1007/BF00295694" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/tera.1420060306" target="_blank">Full Text</a>]
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Kress, W., Schropp, C., Lieb, G., Petersen, B., Busse-Ratzka, M., Kunz, J., Reinhart, E., Schafer, W.-D., Sold, J., Hoppe, F., Pahnke, J., Trusen, A., Sorensen, N., Krauss, J., Collmann, H.
<strong>Saethre-Chotzen syndrome caused by TWIST1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16251895/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16251895</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16251895" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1038/sj.ejhg.5201507" target="_blank">Full Text</a>]
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<a id="Kurczynski1988" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kurczynski, T. W., Casperson, S. M.
<strong>Auralcephalosyndactyly: a new hereditary craniosynostosis syndrome.</strong>
J. Med. Genet. 25: 491-493, 1988.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2845086/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2845086</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2845086" 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.25.7.491" target="_blank">Full Text</a>]
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<a id="Legius1989" class="mim-anchor"></a>
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<p class="mim-text-font">
Legius, E., Fryns, J. P., Van den Berghe, H.
<strong>Auralcephalosyndactyly: a new craniosynostosis syndrome or a variant of the Saethre-Chotzen syndrome?</strong>
J. Med. Genet. 26: 522-524, 1989.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2769726/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2769726</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2769726" 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.26.8.522" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="23" class="mim-anchor"></a>
<a id="Lewanda1994" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Lewanda, A. F., Cohen, M. M., Jr., Jackson, C. E., Taylor, E. W., Li, X., Beloff, M., Day, D., Clarren, S. K., Ortiz, R., Garcia, C., Hauselman, E., Figueroa, A., Wulfsberg, E., Wilson, M., Warman, M. L., Padwa, B. L., Whiteman, D. A. H., Mulliken, J. B., Jabs, E. W.
<strong>Genetic heterogeneity among craniosynostosis syndromes: mapping the Saethre-Chotzen syndrome locus between D7S513 and D7S516 and exclusion of Jackson-Weiss and Crouzon syndrome loci from 7p.</strong>
Genomics 19: 115-119, 1994.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8188211/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8188211</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8188211" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1006/geno.1994.1020" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="24" class="mim-anchor"></a>
<a id="Lewanda1994" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Lewanda, A. F., Green, E. D., Weissenbach, J., Jerald, H., Taylor, E., Summar, M. L., Phillips, J. A., III, Cohen, M., Feingold, M., Mouradian, W., Clarren, S. K., Jabs, E. W.
<strong>Evidence that the Saethre-Chotzen syndrome locus lies between D7S664 and D7S507, by genetic analysis and detection of a microdeletion in a patient.</strong>
Am. J. Hum. Genet. 55: 1195-1201, 1994.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7977380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7977380</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7977380" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
</div>
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<li>
<a id="25" class="mim-anchor"></a>
<a id="Ma1996" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Ma, H. W., Lajeunie, E., de Parseval, N., Munnich, A., Renier, D., Le Merrer, M.
<strong>Possible genetic heterogeneity in the Saethre-Chotzen syndrome.</strong>
Hum. Genet. 98: 228-232, 1996.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8698349/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8698349</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8698349" 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/s004390050197" target="_blank">Full Text</a>]
</p>
</div>
</li>
<li>
<a id="26" class="mim-anchor"></a>
<a id="Malcolm1993" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Malcolm, S., Rose, C. P. S., van Herwerden, L., Reardon, W., Brueton, L., Weissenbach, J., Winter, R. M.
<strong>Mapping of Saethre-Chotzen syndrome (ACS III) to 7p21. (Abstract)</strong>
Am. J. Hum. Genet. 53 (suppl.): A136 only, 1993.
</p>
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<a id="27" class="mim-anchor"></a>
<a id="Marini1991" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Marini, R., Temple, K., Chitty, L., Genet, S., Baraitser, M.
<strong>Pitfalls in counselling: the craniosynostoses.</strong>
J. Med. Genet. 28: 117-121, 1991.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2002481/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2002481</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2002481" 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.28.2.117" target="_blank">Full Text</a>]
</p>
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<a id="28" class="mim-anchor"></a>
<a id="Maw1996" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Maw, M., Kar, B., Biswas, J., Biswas, P., Nancarrow, D., Denton, M., Bridges, R., Kumaramanickavel, G., Badrinath, S. S.
<strong>Linkage of blepharophimosis syndrome in a large Indian pedigree to chromosome 7p.</strong>
Hum. Molec. Genet. 5: 2049-2054, 1996.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8968762/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8968762</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8968762" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/hmg/5.12.2049" target="_blank">Full Text</a>]
</p>
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<a id="29" class="mim-anchor"></a>
<a id="McKeon-Kern1977" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
McKeon-Kern, C., Mamunes, P.
<strong>A case of Saethre-Chotzen syndrome.</strong>
Med. Coll. Va. Quart. 13(4): 186-188, 1977.
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<a id="30" class="mim-anchor"></a>
<a id="Niemann-Seyde1991" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Niemann-Seyde, S. C., Eber, S. W., Zoll, B.
<strong>Saethre-Chotzen syndrome (ACS III) in four generations.</strong>
Clin. Genet. 40: 271-276, 1991.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1756600/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1756600</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1756600" 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.1399-0004.1991.tb03095.x" target="_blank">Full Text</a>]
</p>
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<a id="31" class="mim-anchor"></a>
<a id="Pantke1975" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Pantke, O. A., Cohen, M. M., Jr., Witkop, C. J., Jr., Feingold, M., Schaumann, B., Pantke, H. C., Gorlin, R. J.
<strong>The Saethre-Chotzen syndrome.</strong>
Birth Defects Orig. Art. Ser. XI(2): 190-225, 1975.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1227525/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1227525</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1227525" 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="32" class="mim-anchor"></a>
<a id="Paznekas1998" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Paznekas, W. A., Cunningham, M. L., Howard, T. D., Korf, B. R., Lipson, M. H., Grix, A. W., Feingold, M., Goldberg, R., Borochowitz, Z., Aleck, K., Mulliken, J., Yin, M., Jabs, E. W.
<strong>Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.</strong>
Am. J. Hum. Genet. 62: 1370-1380, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9585583/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9585583</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9585583" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1086/301855" target="_blank">Full Text</a>]
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<a id="33" class="mim-anchor"></a>
<a id="Reardon1994" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Reardon, W., Winter, R. M.
<strong>Saethre-Chotzen syndrome.</strong>
J. Med. Genet. 31: 393-396, 1994.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8064818/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8064818</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8064818" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmg.31.5.393" target="_blank">Full Text</a>]
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<a id="34" class="mim-anchor"></a>
<a id="Reid1993" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Reid, C. S., McMorrow, L. E., McDonald-McGinn, D. M., Grace, K. J., Ramos, F. J., Zackai, E. H., Cohen, M. M., Jr., Jabs, E. W.
<strong>Saethre-Chotzen syndrome with familial translocation at chromosome 7p22.</strong>
Am. J. Med. Genet. 47: 637-639, 1993.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8266989/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8266989</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8266989" 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.1320470511" target="_blank">Full Text</a>]
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<a id="35" class="mim-anchor"></a>
<a id="Rose1994" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Rose, C. S. P., King, A. A. J., Summers, D., Palmer, R., Yang, S., Wilkie, A. O. M., Reardon, W., Malcolm, S., Winter, R. M.
<strong>Localization of the genetic locus for Saethre-Chotzen syndrome to a 6 cM region of chromosome 7 using four cases with apparently balanced translocations at 7p21.2.</strong>
Hum. Molec. Genet. 3: 1405-1408, 1994.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7987323/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7987323</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7987323" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1093/hmg/3.8.1405" target="_blank">Full Text</a>]
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<a id="36" class="mim-anchor"></a>
<a id="Russo1991" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Russo, R., D'Armiento, M., Vecchione, R.
<strong>Renal tubular dysgenesis and very large cranial fontanels in a family with acrocephalosyndactyly S.C. type.</strong>
Am. J. Med. Genet. 39: 482-485, 1991.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1877630/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1877630</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1877630" 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.1320390423" target="_blank">Full Text</a>]
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<a id="37" class="mim-anchor"></a>
<a id="Saethre1931" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Saethre, M.
<strong>Ein Beitrag zum Turmschaedelproblem (Pathogenese, Erblichkeit und Symptomatologie).</strong>
Dtsch. Z. Nervenheilk. 119: 533-555, 1931.
</p>
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<a id="38" class="mim-anchor"></a>
<a id="Sahlin2007" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Sahlin, P., Windh, P., Lauritzen, C., Emanuelsson, M., Gronberg, H., Stenman, G.
<strong>Women with Saethre-Chotzen syndrome are at increased risk of breast cancer.</strong>
Genes Chromosomes Cancer 46: 656-660, 2007.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17437280/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17437280</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17437280" 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/gcc.20449" target="_blank">Full Text</a>]
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<a id="39" class="mim-anchor"></a>
<a id="Waardenburg1961" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Waardenburg, P. J., Franceschetti, A., Klein, D.
<strong>Genetics and Ophthalmology. Vol 1.</strong>
Springfield, Ill.: Charles C Thomas 1961. Pp. 301-354.
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<a id="40" class="mim-anchor"></a>
<a id="Wilkie1995" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Wilkie, A. O. M., Yang, S. P., Summers, D., Poole, M. D., Reardon, W., Winter, R. M.
<strong>Saethre-Chotzen syndrome associated with balanced translocations involving 7p21: three further families.</strong>
J. Med. Genet. 32: 174-180, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7783164/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7783164</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7783164" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmg.32.3.174" target="_blank">Full Text</a>]
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<a id="41" class="mim-anchor"></a>
<a id="Zackai1973" class="mim-anchor"></a>
<div class="">
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Zackai, E. H., Breg, W. R.
<strong>Ring chromosome 7 with variable phenotypic expression.</strong>
Cytogenet. Cell Genet. 12: 40-48, 1973.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4145271/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4145271</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4145271" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1159/000130436" target="_blank">Full Text</a>]
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<a id="42" class="mim-anchor"></a>
<a id="Zackai1998" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Zackai, E. H., Stolle, C. A.
<strong>A new twist: some patients with Saethre-Chotzen syndrome have a microdeletion syndrome. (Editorial)</strong>
Am. J. Hum. Genet. 63: 1277-1281, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9792855/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9792855</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9792855" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1086/302125" target="_blank">Full Text</a>]
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Marla J. F. O'Neill - updated : 01/25/2022
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Marla J. F. O'Neill - updated : 10/26/2017<br>Cassandra L. Kniffin - updated : 2/6/2008<br>Cassandra L. Kniffin - updated : 2/28/2006<br>Deborah L. Stone - updated : 10/28/2002<br>Victor A. McKusick - updated : 6/5/2002<br>Victor A. McKusick - updated : 12/8/1998<br>Victor A. McKusick - updated : 6/23/1998
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Victor A. McKusick : 6/4/1986
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alopez : 05/26/2023<br>carol : 01/25/2022<br>alopez : 04/09/2021<br>carol : 10/26/2017<br>carol : 10/27/2016<br>alopez : 10/06/2016<br>wwang : 02/11/2008<br>ckniffin : 2/6/2008<br>wwang : 6/13/2007<br>wwang : 3/16/2006<br>wwang : 3/15/2006<br>ckniffin : 2/28/2006<br>alopez : 10/19/2004<br>carol : 10/28/2002<br>tkritzer : 9/5/2002<br>alopez : 6/5/2002<br>cwells : 6/5/2002<br>carol : 8/30/2000<br>terry : 4/29/1999<br>carol : 12/11/1998<br>dkim : 12/11/1998<br>terry : 12/8/1998<br>carol : 7/1/1998<br>terry : 6/23/1998<br>jenny : 1/14/1997<br>terry : 1/8/1997<br>terry : 12/13/1996<br>terry : 4/19/1995<br>carol : 1/4/1995<br>pfoster : 3/31/1994<br>mimadm : 3/28/1994<br>carol : 10/29/1993<br>carol : 10/20/1993
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<h3>
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<strong>#</strong> 101400
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SAETHRE-CHOTZEN SYNDROME; SCS
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<em>Alternative titles; symbols</em>
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ACROCEPHALOSYNDACTYLY, TYPE III; ACS3<br />
ACS III<br />
CHOTZEN SYNDROME<br />
ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLY
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Other entities represented in this entry:
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<span class="h3 mim-font">
SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, INCLUDED
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<span class="h4 mim-font">
BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3, FORMERLY, INCLUDED; BPES3, FORMERLY, INCLUDED
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<strong>SNOMEDCT:</strong> 83015004; &nbsp;
<strong>ORPHA:</strong> 794; &nbsp;
<strong>DO:</strong> 14768; &nbsp;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
7p21.1
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Saethre-Chotzen syndrome with or without eyelid anomalies
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<span class="mim-font">
101400
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Autosomal dominant
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3
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TWIST1
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601622
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<span class="mim-font">
10q26.13
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<span class="mim-font">
Saethre-Chotzen syndrome
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<span class="mim-font">
101400
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Autosomal dominant
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3
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FGFR2
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176943
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that the Saethre-Chotzen syndrome (SCS) is caused by heterozygous mutation in the TWIST1 gene (601622) on chromosome 7p21.</p>
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<strong>Description</strong>
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<p>Saethre-Chotzen syndrome (SCS) is characterized by craniosynostosis, facial dysmorphism, and hand and foot abnormalities. Coronal synostosis resulting in brachycephaly is the most frequent cranial abnormality observed, and the most common facial features are asymmetry, hypertelorism, and maxillary hypoplasia. Other features include high forehead, low frontal hairline, late-closing fontanel, strabismus, ptosis, lacrimal duct stenosis, deviated nasal septum, small low-set posteriorly rotated ears with prominent crus, and hearing loss. The limb anomalies consist of radioulnar synostosis, brachydactyly, cutaneous syndactyly, and hallux valgus. Patients also exhibit short stature and vertebral fusion, and mild to moderate mental retardation has been noted in some cases. Inter- and intrafamilial variability is significant, with some patients having fusion of other sutures, or no apparent craniosynostosis but abnormal skull morphology. The degree of syndactyly is also variable, and digital abnormalities can be absent (Jabs, 2008).</p><p>See also Muenke syndrome (602849), which has a phenotype overlapping that of SCS and is caused by a mutation in the FGFR3 gene (P250R; 134934.0014). In addition, at least 1 individual with a phenotype of SCS has been described with a mutation in the FGFR2 gene (176943.0023).</p>
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<strong>Clinical Features</strong>
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<p>In the family described by Saethre (1931), a mother, 2 daughters, and probably other maternal relatives showed mild acrocephaly, asymmetry of the skull, and partial soft tissue syndactyly of fingers 2 and 3 and toes 3 and 4. Chotzen (1932) found identical malformations in a father and 2 sons. Bartsocas et al. (1970) described a Lithuanian kindred living in the United States in which 10 persons in 3 generations were affected, with several instances of male-to-male transmission. Waardenburg et al. (1961) reported asymmetry of the skull and orbits (plagiocephaly), strabismus, and a thin, long, pointed nose in 6 generations of a kindred. Some affected persons had bifid terminal phalanges of digits 2 and 3 and absence of the first metatarsal. Cleft palate, hydrophthalmos, cardiac malformation, and contractures of elbows and knees were present in some. </p><p>Aase and Smith (1970) described a syndrome comprising asymmetry of the face (hypoplasia of the left side), unusually shaped ear with prominent crus (see their Figure 2), and simian crease in 5 members of 3 generations (with 1 instance of male-to-male transmission). They pointed out similarities to and differences from the asymmetry of the face and skull with abnormalities of the digits described by Waardenburg et al. (1961). Gorlin (1971) thought the syndrome described by Aase and Smith (1970) was Chotzen syndrome. Carter et al. (1982) recognized 9 patients, including familial cases. Like Aase and Smith (1970), they recognized a long and prominent ear crus as a valuable sign. </p><p>Kurczynski and Casperson (1988) described mother and daughter with craniosynostosis and symmetrical syndactyly involving the fourth and fifth toes. In addition, both had a short columella and small pinnae. Kurczynski and Casperson (1988) concluded that this represented a new form of acrocephalosyndactyly and suggested the designation auralcephalosyndactyly (109050). </p><p>Legius et al. (1989) described mother and son with bilateral symmetrical syndactyly of the third, fourth and fifth toes, mild craniosynostosis, and small pinnae. In addition, the mother had fusion of 2 cervical vertebrae and partial duplication of the first metatarsal. Furthermore, the distal phalanges of both great toes were bifid. These skeletal changes in combination with cutaneous syndactyly of the toes, abnormal auricles, and acrocephaly have been described in the Saethre-Chotzen syndrome (Kopysc et al., 1980) and also in the Robinow-Sorauf syndrome (180750) (Carter et al., 1982). Legius et al. (1989) concluded that the Saethre-Chotzen, auralcephalosyndactyly, and Robinow-Sorauf syndromes may be somewhat different expressions of the same dominant gene. </p><p>Marini et al. (1991) presented a family illustrating the mild and easily missed expression of the gene in a parent. Niemann-Seyde et al. (1991) observed ACS III in 9 members of 4 generations of a family; 5 of them were severely affected. Russo et al. (1991) described a case of renotubular dysgenesis (267430) in an infant who had widely patent cranial fontanels and whose father and sister showed acrocephalosyndactyly of the Saethre-Chotzen type. This was probably a coincidental association between a recessive disorder and a dominant disorder. </p><p>Chun et al. (2002) found that 3 patients clinically identified as having the Saethre-Chotzen phenotype, 2 with a TWIST mutation and 1 with a TWIST deletion, had the unusual feature of anal malposition/stenosis. In addition, Chun et al. (2002) stated that the photograph shown of the patient reported by Paznekas et al. (1998) with a 2-amino-acid deletion in the FGFR2 gene (176943.0023) was at variance with Saethre-Chotzen syndrome. </p><p>Kress et al. (2006) identified mutations in the TWIST1 gene in 71 patients from 39 of 124 pedigrees with coronal suture synostosis. Fourteen novel mutations were identified. By comparison of clinical features with 42 patients from 24 kindreds with Muenke syndrome and the FGFR3 P250R mutation, classic SCS could be distinguished from the Muenke phenotype by presence of low-set frontal hairline, gross ptosis of the eyelids, subnormal ear length, dilated parietal foramina, interdigital webbing, and broad great toe with bifid distal phalanx. Patients with SCS also tended to have intracranial hypertension as a consequence of early progressive multisutural fusion and normal mental development; those with Muenke syndrome tended to have mental delay and sensorineural hearing loss. Kress et al. (2006) concluded that SCS and Muenke should be considered separate syndromes. </p>
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<strong>Other Features</strong>
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<p>Sahlin et al. (2007) found that 15 (52%) of 29 women over the age of 25 with Saethre-Chotzen syndrome from 15 families developed breast cancer. At least 4 patients developed breast cancer before age 40, and 5 between 40 and 50. The authors concluded that breast cancer is a previously unrecognized symptom of the disorder and further suggested that the TWIST1 gene may be a breast cancer susceptibility gene. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of Saethre-Chotzen syndrome in the families reported by Howard et al. (1997) and El Ghouzzi et al. (1997) was consistent with autosomal dominant inheritance. </p>
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<strong>Mapping</strong>
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<p>Brueton et al. (1992) presented molecular genetic linkage studies suggesting localization of the gene for the Saethre-Chotzen syndrome on distal 7p. Sixteen families with involvement in 2 or more generations were available for study. One of their families (number 16) had characteristics suggesting the Jackson-Weiss syndrome (123150). Excluding this family and pedigree number 15 which had a Pfeiffer-like syndrome (101600), Brueton et al. (1992) found tight linkage to D7S370 (maximum lod = 3.00 at theta = 0.00) and with D7S10 (maximum lod = 2.39 at theta = 0.00). The relationship to other forms of craniosynostosis with hand anomalies that map to 7p remains to be determined. In linkage analysis on 6 ACS III families using 5 CA repeat polymorphisms from 7p, Malcolm et al. (1993) found evidence suggesting location between D7S493 and D7S516. Two patients, a father and daughter, were found with ACS III and a balanced translocation t(7;10)(p21;q21.2). Reid et al. (1993) reported 2 additional patients, a male infant and his mother, with an apparently balanced translocation t(2;7)(p23;p22). Lewanda et al. (1994) confirmed linkage of the Saethre-Chotzen syndrome to 7p. The tightest linkage was to D7S493; linkage and haplotype analyses refined the location of the gene to the region between D7S513 and D7S516. On the basis of 4 patients with apparently balanced translocations at 7p21.2, Rose et al. (1994) narrowed the localization of the ACS3 gene to a 6-cM region. By fluorescence in situ hybridization, they showed that the breakpoints were situated within the region flanked by genetic markers D7S488 and D7S493 in distal 7p. Lewanda et al. (1994) used linkage and haplotype analyses to narrow the disease locus to an 8-cM region between D7S664 and D7S507. The tightest linkage was to D7S664; maximum lod = 7.16 at theta = 0.00. Studying the t(2;7)(p23;p22) in a patient with Saethre-Chotzen syndrome, Lewanda et al. (1994) found that the D7S664 locus lay distal to the 7p22 breakpoint, whereas the D7S507 locus was deleted from the translocation chromosome. Wilkie et al. (1995) reported 3 further families, each segregating a different reciprocal chromosomal translocation involving 7p21. A total of 7 apparently balanced carriers were identified and all manifest features of the Saethre-Chotzen syndrome, although only 2 had overt craniosynostosis. In 1 family, the carriers were immediately recognized by their unusual ears, and clefts of the hard or soft palate were present in all 3 families. The abnormally configured ear was pictured in 1 member from each of 3 generations. </p><p>Ma et al. (1996) studied 3 further families to provide additional support to the localization of a disease gene between D7S493 and D7S664. There was a suspicion that at least 2 disease-causing genes may map to 7p, one distal and the other proximal to D7S488. </p><p>See craniosynostosis (123100) for well-established mapping to 7p21.3-p21.2 on the basis of structural alterations in that region. The gene for Greig cephalopolysyndactyly syndrome (GCPS; 175700) appears to be located at 7p13.</p>
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<span class="mim-font">
<strong>Molecular Genetics</strong>
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<p>Howard et al. (1997) and El Ghouzzi et al. (1997) demonstrated that the Saethre-Chotzen syndrome results from mutations in the TWIST1 gene (601622). They were prompted to evaluate the TWIST gene, which encodes a basic helix-loop-helix transcription factor, because its expression pattern and mutant phenotypes in Drosophila and mouse are consistent with the SCS phenotype in humans. Howard et al. (1997) mapped the human TWIST gene by PCR analysis of somatic cell hybrids to 7p22-p21 in a region homologous to the region of mouse chromosome 12 where the murine TWIST gene had been mapped. They assigned it to a specific YAC which was known to contain the breakpoint of a chromosome translocation in 1 Saethre-Chotzen syndrome case. Bourgeois et al. (1996) had previously cloned human TWIST and mapped it to 7p21. Howard et al. (1997) identified nonsense, missense, insertion, and deletion mutations in TWIST in patients with Saethre-Chotzen syndrome. El Ghouzzi et al. (1997) reported 21-bp insertions and nonsense mutations in the TWIST gene in 7 probands with SCS. </p><p>Paznekas et al. (1998) screened 32 unrelated patients with features of Saethre-Chotzen syndrome for mutations in the TWIST, FGFR2 (176943), and FGFR3 (134934) genes. Nine novel and 3 recurrent TWIST mutations were found in 12 families. Seven families were found to have the FGFR3 P250R mutation (134934.0014), and 1 individual was found to have a VV269-270 deletion of the FGFR2 gene (176943.0023). The detection rate for TWIST or FGFR mutations, including 5 previously reported patients with TWIST mutations, was 68% in Saethre-Chotzen syndrome patients. More than 35 different TWIST mutations had been reported. The most common phenotypic features, present in more than one-third of Saethre-Chotzen patients with TWIST mutations, were coronal synostosis, brachycephaly, low frontal hairline, facial asymmetry, ptosis, hypertelorism, broad great toes, and clinodactyly. Significant intra- and interfamilial phenotypic variability was present for either TWIST or FGFR mutations. </p><p>Chun et al. (2002) investigated 11 patients clinically identified as having the Saethre-Chotzen phenotype. Four were found to carry the FGFR3 P250R mutation, 3 were found to be heterozygous for different novel mutations of TWIST, and 2 were found to have a deletion of 1 copy of the entire TWIST gene. Developmental delay was a distinguishing feature of the patients with deletions of TWIST; see CYTOGENETICS section. </p>
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<strong>Heterogeneity</strong>
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<p><strong><em>Saethre-Chotzen Syndrome with Eyelid Anomalies</em></strong></p><p>
In a large Indian family reported by Maw et al. (1996) in which BPES (110100) was segregating, Dollfus et al. (2001) found that affected members carried a novel 'stop' mutation in the TWIST gene, gly28 to ter (601622.0011). This form of BPES, which showed linkage to chromosome 7p, had been known as BPES3. After clinical reevaluation of all members of the family, some of whom were not born at the time of the initial linkage analysis, Dollfus et al. (2002) concluded that the phenotypic expression was compatible with Saethre-Chotzen syndrome, with remarkable phenotypic variability. Fifteen of 16 family members examined had moderate to severe ptosis. Eyelid features were the hallmark of the disease for 12 members of the family, suggesting that mutations in TWIST may lead to a phenotype with mainly palpebral features and no craniostenosis. Dollfus et al. (2002) pointed to the previous observations of similar phenotypic variability and eyelid malformation in transgenic twist-null heterozygous mice. </p>
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<h4>
<span class="mim-font">
<strong>Cytogenetics</strong>
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<p>Zackai and Breg (1973) described a child who had unicoronal synostosis, unilateral ptosis, short stature, microcephaly, simian crease, developmental delay, and a ring chromosome 7. Zackai and Stolle (1998) reported results that provided an explanation for that patient's findings. Using a combination of techniques, including analysis of microsatellite markers, FISH, and Southern blot analysis, Johnson et al. (1998) determined that a significant proportion of patients with Saethre-Chotzen syndrome had deletions in 7p21.1 that encompass the TWIST gene. Furthermore, patients with large (megabase-sized) deletions in this region have significant learning difficulties in addition to the clinical features of Saethre-Chotzen syndrome, which suggested that such mutations define a new microdeletion syndrome. The findings refined the molecular tools for diagnosis of Saethre-Chotzen syndrome and provided an explanation for at least some of the phenotypic variability that can confound clinical diagnosis of this disorder. </p>
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<h4>
<span class="mim-font">
<strong>Diagnosis</strong>
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<p>Johnson et al. (1998) found facial asymmetry, low frontal hairline, and ptosis to be the most helpful for identifying patients with Saethre-Chotzen syndrome in the absence of pathognomonic features such as 2,3 syndactyly of fingers and duplicated halluces. Craniosynostosis and Saethre-Chotzen syndrome may be unicoronal or bicoronal; metopic suture fusion is found in some cases, but sagittal suture fusion is rare. Zackai and Stolle (1998) suggested that it is useful to perform analysis for the P250R mutation in the FGFR3 gene in cases of unicoronal synostosis in which other findings of Saethre-Chotzen syndrome are absent. </p>
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<h4>
<span class="mim-font">
<strong>History</strong>
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<span class="mim-text-font">
<p>Reardon and Winter (1994) wrote as follows: 'Clinical geneticists are inured to anecdotes recounting odd presentations of dysmorphic syndromes. Saethre-Chotzen syndrome is a case in point. A consultation for schizophrenia led to the first report from the Norwegian psychiatrist, Haakon Saethre...' (Saethre, 1931). Chotzen (1932) reported a father and 2 sons with the syndrome that came to carry his name. </p><p>Zackai and Stolle (1998) reviewed the history of this disorder beginning with the Norwegian psychiatrist Haakon Saethre (1931) and the German psychiatrist F. Chotzen (1932), and continuing with the premolecular nosology, particularly the landmark paper of Pantke et al. (1975), and the molecular characterization through linkage studies and translocation identification, leading to positional cloning, identification of a candidate gene, and the finding of mutations in that gene. </p>
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<h4>
<span class="mim-font">
<strong>See Also:</strong>
</span>
</h4>
<span class="mim-text-font">
Bianchi et al. (1981); Bianchi et al. (1985); Escobar et al. (1977);
Kreiborg et al. (1972); Lewanda et al. (1994); McKeon-Kern and
Mamunes (1977)
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<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
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</h4>
<div>
<p />
</div>
<div>
<ol>
<li>
<p class="mim-text-font">
Aase, J. M., Smith, D. W.
<strong>Facial asymmetry and abnormalities of palms and ears: a dominantly inherited developmental syndrome.</strong>
J. Pediat. 76: 928-930, 1970.
[PubMed: 5444587]
[Full Text: https://doi.org/10.1016/s0022-3476(70)80378-x]
</p>
</li>
<li>
<p class="mim-text-font">
Bartsocas, C. S., Weber, A. L., Crawford, J. D.
<strong>Acrocephalosyndactyly type 3: Chotzen&#x27;s syndrome.</strong>
J. Pediat. 77: 267-272, 1970.
[PubMed: 4393456]
[Full Text: https://doi.org/10.1016/s0022-3476(70)80334-1]
</p>
</li>
<li>
<p class="mim-text-font">
Bianchi, D. W., Cirillo-Silengo, M., Luzzatti, L., Greenstein, R. M.
<strong>Interstitial deletion of the short arm of chromosome 7 without craniosynostosis.</strong>
Clin. Genet. 19: 456-461, 1981.
[PubMed: 7296937]
[Full Text: https://doi.org/10.1111/j.1399-0004.1981.tb02064.x]
</p>
</li>
<li>
<p class="mim-text-font">
Bianchi, E., Arico, M., Podesta, A. F., Grana, M., Fiori, P., Beluffi, G.
<strong>A family with the Saethre-Chotzen syndrome.</strong>
Am. J. Med. Genet. 22: 649-658, 1985.
[PubMed: 4073118]
[Full Text: https://doi.org/10.1002/ajmg.1320220402]
</p>
</li>
<li>
<p class="mim-text-font">
Bourgeois, P., Stoetzel, C., Bolcato-Bellemin, A. L., Mattei, M. G., Perrin-Schmitt, F.
<strong>The human H-twist gene is located at 7p21 and encodes a B-HLH protein that is 96% similar to its murine M-twist counterpart.</strong>
Mammalian Genome 7: 915-917, 1996.
[PubMed: 8995765]
[Full Text: https://doi.org/10.1007/s003359900269]
</p>
</li>
<li>
<p class="mim-text-font">
Brueton, L. A., van Herwerden, L., Chotai, K. A., Winter, R. M.
<strong>The mapping of a gene for craniosynostosis: evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p.</strong>
J. Med. Genet. 29: 681-685, 1992.
[PubMed: 1433226]
[Full Text: https://doi.org/10.1136/jmg.29.10.681]
</p>
</li>
<li>
<p class="mim-text-font">
Carter, C. O., Till, K., Fraser, V., Coffey, R.
<strong>A family study of craniosynostosis, with probable recognition of a distinct syndrome.</strong>
J. Med. Genet. 19: 280-285, 1982.
[PubMed: 7120316]
[Full Text: https://doi.org/10.1136/jmg.19.4.280]
</p>
</li>
<li>
<p class="mim-text-font">
Chotzen, F.
<strong>Eine eigenartige familiaere Entwicklungsstoerung (Akrocephalosyndaktylie, Dysostosis craniofacialis und Hypertelorismus).</strong>
Mschr. Kinderheilk. 55: 97-122, 1932.
</p>
</li>
<li>
<p class="mim-text-font">
Chun, K., Teebi, A. S., Jung, J. H., Kennedy, S., Laframboise, R., Meschino, W. S., Nakabayashi, K., Scherer, S. W., Roy, P. N., Teshima, I.
<strong>Genetic analysis of patients with the Saethre-Chotzen phenotype.</strong>
Am. J. Med. Genet. 110: 136-143, 2002.
[PubMed: 12116251]
[Full Text: https://doi.org/10.1002/ajmg.10400]
</p>
</li>
<li>
<p class="mim-text-font">
Dollfus, H., Biswas, P., Kumaramanickavel, G., Stoetzel, C., Quillet, R., Biswas, J., Lajeunie, E., Renier, D., Perrin-Schmitt, F.
<strong>Saethre-Chotzen syndrome: notable intrafamilial phenotypic variability in a large family with Q28X TWIST mutation.</strong>
Am. J. Med. Genet. 109: 218-225, 2002.
[PubMed: 11977182]
[Full Text: https://doi.org/10.1002/ajmg.10349]
</p>
</li>
<li>
<p class="mim-text-font">
Dollfus, H., Kumaramanickavel, G., Biswas, P., Stoetzel, C., Quillet, R., Denton, M., Maw, M., Perrin-Schmitt, F.
<strong>Identification of a new TWIST mutation (7p21) with variable eyelid manifestations supports locus homogeneity of BPES at 3q22. (Letter)</strong>
J. Med. Genet. 38: 470-472, 2001.
[PubMed: 11474656]
[Full Text: https://doi.org/10.1136/jmg.38.7.470]
</p>
</li>
<li>
<p class="mim-text-font">
El Ghouzzi, V., Le Merrer, M., Perrin-Schmitt, F., Lajeunie, E., Benit, P., Renier, D., Bourgeois, P., Bolcato-Bellemin, A.-L., Munnich, A., Bonaventure, J.
<strong>Mutations of the TWIST gene in the Saethre-Chotzen syndrome.</strong>
Nature Genet. 15: 42-46, 1997.
[PubMed: 8988167]
[Full Text: https://doi.org/10.1038/ng0197-42]
</p>
</li>
<li>
<p class="mim-text-font">
Escobar, V., Brandt, I. K., Bixler, D.
<strong>Unusual association of Saethre-Chotzen syndrome and congenital adrenal hyperplasia.</strong>
Clin. Genet. 11: 365-371, 1977.
[PubMed: 862213]
[Full Text: https://doi.org/10.1111/j.1399-0004.1977.tb01328.x]
</p>
</li>
<li>
<p class="mim-text-font">
Gorlin, R. J.
<strong>Personal Communication.</strong>
Minneapolis, Minn. 1971.
</p>
</li>
<li>
<p class="mim-text-font">
Howard, T. D., Paznekas, W. A., Green, E. D., Chiang, L. C., Ma, N., Ortiz De Luna, R. I., Delgado, C. G., Gonzalez-Ramos, M., Kline, A. D., Jabs, E. W.
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