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Entry
- #220210 - RITSCHER-SCHINZEL SYNDROME 1; RTSC1
- OMIM
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<span class="h4">#220210</span>
<br />
<strong>Table of Contents</strong>
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<a href="/clinicalSynopsis/220210"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS220210"> <strong>Phenotypic Series</strong> </a>
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<a href="#cytogenetics">Cytogenetics</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<div><a href="https://clinicaltrials.gov/search?cond=RITSCHER-SCHINZEL 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><a href="https://www.alliancegenome.org/disease/DOID:0060571" 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/220210" 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/results?search_type=advanced&omia_id=000258,001264" class="mim-tip-hint" title="OMIA" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OMIA', 'domain': 'omia.angis.org.au'})">OMIA</a></div>
<div><a href="https://wormbase.org/resources/disease/DOID:0060571" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
</div>
</div>
</div>
</div>
</div>
</div>
<span>
<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
&nbsp;
</span>
</span>
</div>
<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>SNOMEDCT:</strong> 718556007<br />
<strong>ORPHA:</strong> 7<br />
<strong>DO:</strong> 0060571<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>
220210
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
RITSCHER-SCHINZEL SYNDROME 1; RTSC1
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<a id="alternativeTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
<em>Alternative titles; symbols</em>
</span>
</p>
</div>
<div>
<h4>
<span class="mim-font">
CRANIOCEREBELLOCARDIAC DYSPLASIA<br />
3C SYNDROME<br />
DANDY-WALKER-LIKE MALFORMATION WITH ATRIOVENTRICULAR SEPTAL DEFECT
</span>
</h4>
</div>
</div>
<div>
<br />
</div>
</div>
<div>
<a id="phenotypeMap" class="mim-anchor"></a>
<h4>
<span class="mim-font">
<strong>Phenotype-Gene Relationships</strong>
</span>
</h4>
<div>
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
<thead>
<tr class="active">
<th>
Location
</th>
<th>
Phenotype
</th>
<th>
Phenotype <br /> MIM number
</th>
<th>
Inheritance
</th>
<th>
Phenotype <br /> mapping key
</th>
<th>
Gene/Locus
</th>
<th>
Gene/Locus <br /> MIM number
</th>
</tr>
</thead>
<tbody>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/8/538?start=-3&limit=10&highlight=538">
8q24.13
</a>
</span>
</td>
<td>
<span class="mim-font">
Ritscher-Schinzel syndrome 1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/220210"> 220210 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
</span>
</td>
<td>
<span class="mim-font">
WASHC5
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/610657"> 610657 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/220210" class="btn btn-warning" role="button"> Clinical Synopsis </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
</button>
</div>
&nbsp;
<div class="btn-group">
<a href="/phenotypicSeries/PS220210" class="btn btn-info" role="button"> Phenotypic Series </a>
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
<span class="caret"></span>
<span class="sr-only">Toggle Dropdown</span>
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&nbsp;
<div class="btn-group">
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
PheneGene Graphics <span class="caret"></span>
</button>
<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/220210" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/220210" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
</ul>
</div>
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
<div>
<p />
</div>
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
<div class="small" style="margin: 5px">
<div>
<div>
<span class="h5 mim-font">
<strong> INHERITANCE </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
</span>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GROWTH </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Other </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Intrauterine growth retardation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22033007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22033007</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/764.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">764.90</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/764.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">764.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015934&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015934</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001511" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001511</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001511" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001511</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">
- Prominent occiput <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853737&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853737</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000269" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000269</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000269" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000269</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=d867e4ba8355e423f813671a1ab548a5" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Occiput,Prominent-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=d867e4ba8355e423f813671a1ab548a5&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 /> -
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 />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Face </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Micrognathia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32958008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32958008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M26.04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M26.04</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.04</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0025990&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025990</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000347</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000347</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9149eccae19753e96defbd69602ab882" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Micrognathia-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=9149eccae19753e96defbd69602ab882&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Tall, broad forehead <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857354&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857354</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">
- 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 />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Eyes </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Coloboma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/93390002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">93390002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q13.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q13.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009363&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009363</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000589" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000589</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000589" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000589</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 /> -
Downslanting palpebral fissures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246800008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246800008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423110&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423110</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000494" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000494</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000494" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000494</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">
- Depressed nasal bridge <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836542&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836542</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005280</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005280</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=7043769fd21a78a413fd758918cdda17" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Nasal_Bridge,Depressed-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=7043769fd21a78a413fd758918cdda17&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> Mouth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- 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">
- Ventricular septal defect <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/30288003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">30288003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253549006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253549006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/768552007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">768552007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q21.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q21.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/745.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">745.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018818&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018818</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001629" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001629</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001629" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001629</a>]</span><br /> -
Atrial septal defect <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253366007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253366007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405752007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405752007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/70142008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">70142008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q21.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q21.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q21.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q21.10</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018817&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018817</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001631" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001631</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001631" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001631</a>]</span><br /> -
Tetralogy of Fallot <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86299006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86299006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q21.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q21.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/745.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">745.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0039685&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039685</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001636" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001636</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001636" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001636</a>]</span><br /> -
Double outlet right ventricle <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/7484005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">7484005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q20.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q20.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/745.11" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">745.11</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013069&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013069</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001719" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001719</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001719" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001719</a>]</span><br /> -
Hypoplastic left heart <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/62067003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">62067003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q23.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q23.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/746.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">746.7</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0152101&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0152101</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004383" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004383</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004383" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004383</a>]</span><br /> -
Aortic stenosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60573004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60573004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003507&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003507</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001650</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001650" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001650</a>]</span><br /> -
Pulmonic stenosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/56786000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">56786000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1956257&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1956257</a>, <a href="https://bioportal.bioontology.org/search?q=C0034089&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0034089</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001642" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001642</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001642" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001642</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> CHEST </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Ribs Sternum Clavicles & Scapulae </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Absent ribs <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249695006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249695006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0426816&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426816</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000921" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000921</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000921" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000921</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> ABDOMEN </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Gastrointestinal </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Anal atresia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204712000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204712000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q42.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q42.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003466&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003466</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002023" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002023</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002023" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002023</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GENITOURINARY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> External Genitalia (Male) </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hypospadias <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204888000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204888000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/416010008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">416010008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q54.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q54.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q54.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q54.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q54" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q54</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/752.61" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">752.61</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0848558&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0848558</a>, <a href="https://bioportal.bioontology.org/search?q=C1691215&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1691215</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003244" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003244</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000047" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000047</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000047" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000047</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Kidneys </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hydronephrosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43064006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43064006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N13.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N13.30</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/591" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">591</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020295&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020295</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000126" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000126</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000126" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000126</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> Spine </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hemivertebrae <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/68359008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">68359008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q76.49" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q76.49</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/756.14" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">756.14</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0265677&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265677</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002937" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002937</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002937" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002937</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 <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">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2117411&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2117411</a>, <a href="https://bioportal.bioontology.org/search?q=C0039075&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039075</a> 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> <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 />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKIN, NAILS, & HAIR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Hair </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Low posterior hairline <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855728&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855728</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002162" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002162</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002162" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002162</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=7d997573ca589e086a27f00c475ce630" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Hairline,Low_Posterior-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=7d997573ca589e086a27f00c475ce630&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>
<div>
<div>
<span class="h5 mim-font">
<strong> NEUROLOGIC </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Central Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Delayed psychomotor development <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/224958001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">224958001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F88" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F88</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0557874&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0557874</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span><br /> -
Dandy-Walker malformation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/14447001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">14447001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q03.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q03.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0010964&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0010964</a>, <a href="https://bioportal.bioontology.org/search?q=C2931867&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2931867</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001305" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001305</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001305" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001305</a>]</span><br /> -
Cerebellar vermis hypoplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1840379&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840379</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001320" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001320</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001320" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001320</a>]</span><br /> -
Posterior fossa cysts <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857353&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857353</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007291" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007291</a>]</span><br /> -
Hydrocephalus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/230745008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">230745008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G91" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G91</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/G91.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G91.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020255&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020255</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000238" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000238</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000238" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000238</a>]</span><br /> -
Hypotonia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398151007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398151007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398152000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398152000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026827&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026827</a>, <a href="https://bioportal.bioontology.org/search?q=C1858120&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858120</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001290" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001290</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span><br />
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<strong> ENDOCRINE FEATURES </strong>
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- Adrenal hypoplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1846223&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1846223</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000835" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000835</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000835" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000835</a>]</span><br /> -
Growth hormone deficiency <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/397827003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">397827003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/2109003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">2109003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0271561&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0271561</a>, <a href="https://bioportal.bioontology.org/search?q=C3714796&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3714796</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034323" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034323</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034323" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034323</a>]</span><br />
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<strong> PRENATAL MANIFESTATIONS </strong>
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<em> Placenta & Umbilical Cord </em>
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- Single umbilical artery <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204470001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204470001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q27.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q27.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1384670&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1384670</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001195" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001195</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001195" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001195</a>]</span><br />
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<strong> MOLECULAR BASIS </strong>
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- Caused by mutation in the KIAA0196 gene (KIAA0196, <a href="/entry/610657#0004">610657.0004</a>)<br />
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<h5>
Ritscher-Schinzel syndrome
- <a href="/phenotypicSeries/PS220210">PS220210</a>
- 4 Entries
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<strong>Location</strong>
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<strong>Phenotype</strong>
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<strong>Inheritance</strong>
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<strong>Phenotype<br />mapping key</strong>
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<strong>Phenotype<br />MIM number</strong>
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<strong>Gene/Locus</strong>
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<strong>Gene/Locus<br />MIM number</strong>
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<span class="mim-font">
<a href="/geneMap/2/113?start=-3&limit=10&highlight=113"> 2p23.3 </a>
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<span class="mim-font">
<a href="/entry/619435"> Ritscher-Schinzel syndrome 4 </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<a href="/entry/619435"> 619435 </a>
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<a href="/entry/608383"> DPYSL5 </a>
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<span class="mim-font">
<a href="/entry/608383"> 608383 </a>
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<span class="mim-font">
<a href="/geneMap/8/538?start=-3&limit=10&highlight=538"> 8q24.13 </a>
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<span class="mim-font">
<a href="/entry/220210"> Ritscher-Schinzel syndrome 1 </a>
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<a href="/entry/220210"> 220210 </a>
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<a href="/entry/610657"> WASHC5 </a>
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<span class="mim-font">
<a href="/entry/610657"> 610657 </a>
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<span class="mim-font">
<a href="/geneMap/16/239?start=-3&limit=10&highlight=239"> 16p12.3 </a>
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<span class="mim-font">
<a href="/entry/619135"> Ritscher-Schinzel syndrome 3 </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
<a href="/entry/619135"> 619135 </a>
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<a href="/entry/618981"> VPS35L </a>
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<span class="mim-font">
<a href="/entry/618981"> 618981 </a>
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<span class="mim-font">
<a href="/geneMap/X/276?start=-3&limit=10&highlight=276"> Xp11.23 </a>
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<span class="mim-font">
<a href="/entry/300963"> Ritscher-Schinzel syndrome 2 </a>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="X-linked recessive">XLR</abbr>
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<span class="mim-font">
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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<span class="mim-font">
<a href="/entry/300963"> 300963 </a>
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<span class="mim-font">
<a href="/entry/300859"> CCDC22 </a>
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<span class="mim-font">
<a href="/entry/300859"> 300859 </a>
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that Ritscher-Schinzel syndrome-1 (RTSC1) is caused by homozygous mutation in the WASHC5 gene (<a href="/entry/610657">610657</a>) on chromosome 8q24.</p>
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<a id="description" class="mim-anchor"></a>
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<strong>Description</strong>
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<p>The 3C syndrome, also known as Ritscher-Schinzel syndrome, is a developmental malformation syndrome characterized by craniofacial abnormalities, congenital heart defects, and cerebellar brain malformations. Facial features include prominent occiput, prominent forehead, low-set ears, downslanting palpebral fissures, depressed nasal bridge, and micrognathia. Cardiac defects can include septal defects and aortic stenosis, among others, and brain imaging shows Dandy-Walker malformation, cerebellar vermis hypoplasia, posterior fossa cysts, and ventricular dilatation. Affected individuals have delayed psychomotor development (summary by <a href="#10" class="mim-tip-reference" title="Leonardi, M. L., Pai, G. S., Wilkes, B., Lebel, R. R. &lt;strong&gt;Ritscher-Schinzel cranio-cerebello-cardiac (3C) syndrome: report of four new cases and review.&lt;/strong&gt; Am. J. Med. Genet. 102: 237-242, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11484200/&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;11484200&lt;/a&gt;]" pmid="11484200">Leonardi et al., 2001</a>; <a href="#4" class="mim-tip-reference" title="Elliott, A. M., Simard, L. R., Coghlan, G., Chudley, A. E., Chodirker, B. N., Greenberg, C. R., Burch, T., Ly, V., Hatch, G. M., Zelinski, T. &lt;strong&gt;A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort.&lt;/strong&gt; J. Med. Genet. 50: 819-822, 2013.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/24065355/&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;24065355&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmedgenet-2013-101715&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="24065355">Elliott et al., 2013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=24065355+11484200" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Genetic Heterogeneity of Ritscher-Schinzel Syndrome</em></strong></p><p>
See also RTSC2 (<a href="/entry/300963">300963</a>), caused by mutation in the CCDC22 gene (<a href="/entry/300859">300859</a>) on chromosome Xp11; RTSC3 (<a href="/entry/619135">619135</a>), caused by mutation in the VPS35L gene (<a href="/entry/618981">618981</a>) on chromosome 16p12; and RTSC4 (<a href="/entry/619435">619435</a>), caused by mutation in the DPYSL5 gene (<a href="/entry/608383">608383</a>) on chromosome 2p23.</p>
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<strong>Clinical Features</strong>
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<p><a href="#16" class="mim-tip-reference" title="Ritscher, D., Schinzel, A., Boltshauser, E., Briner, J., Arbenz, U., Sigg, P. &lt;strong&gt;Dandy-Walker (like) malformation, atrio-ventricular septal defect and a similar pattern of minor anomalies in 2 sisters: a new syndrome?&lt;/strong&gt; Am. J. Med. Genet. 26: 481-491, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3812597/&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;3812597&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320260227&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="3812597">Ritscher et al. (1987)</a> provided the first description of this disorder in 2 affected sisters; see RTSC4, <a href="/entry/619435">619435</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3812597" 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="#12" class="mim-tip-reference" title="Marles, S. L., Chodirker, B. N., Greenberg, C. R., Chudley, A. E. &lt;strong&gt;Evidence for Ritscher-Schinzel syndrome in Canadian native Indians.&lt;/strong&gt; Am. J. Med. Genet. 56: 343-350, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7604842/&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;7604842&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320560402&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="7604842">Marles et al. (1995)</a> observed 3 male and 5 female Canadian children from 7 families with features they considered to represent the Ritscher-Schinzel syndrome. Three of the families were related. The parents of the 2 affected sibs were consanguineous, but the other 2 sets of parents in these 3 families were not, to the best of their knowledge. All parents and other sibs were clinically unaffected, with parental ages ranging from 21 to 33 years. In addition to a distinctive facial appearance, the affected children showed variable combinations of ocular colobomas, hypertelorism, macrocephaly, hand anomalies, congenital heart defects, structural CNS posterior fossa malformations, and mental retardation. Ocular coloboma occurred in 6 of the patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7604842" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Elliott, A. M., Simard, L. R., Coghlan, G., Chudley, A. E., Chodirker, B. N., Greenberg, C. R., Burch, T., Ly, V., Hatch, G. M., Zelinski, T. &lt;strong&gt;A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort.&lt;/strong&gt; J. Med. Genet. 50: 819-822, 2013.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/24065355/&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;24065355&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmedgenet-2013-101715&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="24065355">Elliott et al. (2013)</a> reported 11 patients from the First Nation isolated population in northern Manitoba, Canada, with RTSC1 confirmed by genetic analysis. Four of the patients had previously been reported by <a href="#12" class="mim-tip-reference" title="Marles, S. L., Chodirker, B. N., Greenberg, C. R., Chudley, A. E. &lt;strong&gt;Evidence for Ritscher-Schinzel syndrome in Canadian native Indians.&lt;/strong&gt; Am. J. Med. Genet. 56: 343-350, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7604842/&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;7604842&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320560402&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="7604842">Marles et al. (1995)</a>. All patients had intellectual disability and dysmorphic facial features, including macrocephaly, brachycephaly, prominent forehead, low posterior hairline, wide and downslanting palpebral fissures, hypertelorism, and low-set ears. Three patients had ocular coloboma. Six patients had variable cardiac septal defects. Central nervous system abnormalities included Dandy-Walker malformation (4 patients), enlarged ventricles, hypoplasia of the cerebellar vermis, and increased cerebrospinal fluid in various brain regions. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=24065355+7604842" 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="Verloes, A., Dresse, M.-F., Jovanovic, M., Dodinval, P., Geubelle, F. &lt;strong&gt;3C syndrome: third occurrence of cranio-cerebello-cardiac dysplasia (Ritscher-Schinzel syndrome).&lt;/strong&gt; Clin. Genet. 35: 205-208, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2650935/&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;2650935&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1989.tb02929.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="2650935">Verloes et al. (1989)</a> described an isolated case in a daughter of nonconsanguineous parents. The child showed wide fontanels and facial dysmorphism (evoking cleidocranial dysplasia), cerebellar vermis hypoplasia, aplasia of the first ribs, multifocal sternal ossification centers, and cardiac septal defects. <a href="#13" class="mim-tip-reference" title="Mims, L. C., Say, B. &lt;strong&gt;3C syndrome: another case. (Letter)&lt;/strong&gt; Clin. Genet. 36: 465 only, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2591075/&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;2591075&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1989.tb03380.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="2591075">Mims and Say (1989)</a> reported a case. <a href="#6" class="mim-tip-reference" title="Gurrieri, F., Neri, G. &lt;strong&gt;An additional patient with the 3C syndrome.&lt;/strong&gt; Clin. Genet. 41: 263-265, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1606716/&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;1606716&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1992.tb03678.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="1606716">Gurrieri and Neri (1992)</a> reported a case of a child who showed camptodactyly of the fifth finger and hypoplasia of terminal phalanges with microonychia. <a href="#7" class="mim-tip-reference" title="Hoo, J. J., Kreiter, M., Halverson, N., Perszyk, A. &lt;strong&gt;3C (cranio-cerebello-cardiac) syndrome: a recently delineated and easily recognizable congenital malformation syndrome.&lt;/strong&gt; Am. J. Med. Genet. 52: 66-69, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7977465/&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;7977465&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320520113&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="7977465">Hoo et al. (1994)</a> described 2 unrelated patients. They emphasized the presence of high and prominent forehead, hypoplastic vermis and cyst of the posterior fossa with or without hydrocephalus, and an atrial or atrioventricular septal defect with or without other heart anomalies. Among 162 non-Down syndrome cases of atrioventricular canal, <a href="#3" class="mim-tip-reference" title="Digilio, M. C., Marino, B., Giannotti, A., Mingarelli, R., Dallapiccola, B. &lt;strong&gt;Atrioventricular canal and 3C (cranio-cerebello-cardiac) syndrome. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 58: 97-98, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7573166/&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;7573166&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320580120&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="7573166">Digilio et al. (1995)</a> found 1 patient they considered to have the 3C (craniocerebellocardiac) syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7977465+1606716+2650935+2591075+7573166" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#17" class="mim-tip-reference" title="Saraiva, J. M., Gama, E., Moreira Pires, M., Sequeira, J. F. &lt;strong&gt;First report of glaucoma as a feature of the 3C syndrome.&lt;/strong&gt; Clin. Dysmorph. 4: 156-160, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7606323/&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;7606323&lt;/a&gt;]" pmid="7606323">Saraiva et al. (1995)</a> described an affected female infant with facial dysmorphism, cerebellar hypoplasia, hydrocephaly, Dandy-Walker malformation, atrial septal defects, abnormal vertebral segmentation, and syndactyly of toes 4-5. In addition to these typical manifestations of the 3C syndrome, the patient also had glaucoma. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7606323" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In an analysis of cardiovascular malformations (CVM) in the 3C syndrome, <a href="#11" class="mim-tip-reference" title="Lurie, I. W., Ferencz, C. &lt;strong&gt;&#x27;Shifted&#x27; threshold may explain diversity of cardiovascular malformations in multiple congenital abnormalities syndromes: 3C (Ritscher-Schinzel) syndrome as an example.&lt;/strong&gt; Am. J. Med. Genet. 66: 72-74, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8957516/&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;8957516&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(SICI)1096-8628(19961202)66:1&lt;72::AID-AJMG16&gt;3.0.CO;2-N&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="8957516">Lurie and Ferencz (1996)</a> found at least 9 types of CVM in 24 cases, including 4 cases from the Baltimore-Washington infant study. The proportion of the different CVM forms were similar to that of the general population. They pointed out that the same is also true for many other syndromes of multiple congenital abnormalities (MCA), due either to aneuploidy or to mendelian mutation. They proposed the hypothesis that the basic mutation (or chromosome imbalance) affects cellular homeostasis and leads to the shifting of a threshold to the left. This allows the expression of some genes silent under normal conditions. <a href="#5" class="mim-tip-reference" title="Fraser, F. C. &lt;strong&gt;Liability, thresholds, malformations, and syndromes. (Editorial)&lt;/strong&gt; Am. J. Med. Genet. 66: 75-76, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8957517/&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;8957517&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(SICI)1096-8628(19961202)66:1&lt;75::AID-AJMG17&gt;3.0.CO;2-N&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="8957517">Fraser (1996)</a> pointed out that their observations drew attention to an important but underappreciated relationship, namely, that factors influencing susceptibility to specific malformations may act by influencing the normal developmental pattern. This idea is based on the multifactorial threshold model, which postulates that many genes and environmental factors interact to determine a continuous distribution of susceptibility (liability), which is separated by a threshold into discontinuous parts, i.e., affected and unaffected. In the view of <a href="#5" class="mim-tip-reference" title="Fraser, F. C. &lt;strong&gt;Liability, thresholds, malformations, and syndromes. (Editorial)&lt;/strong&gt; Am. J. Med. Genet. 66: 75-76, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8957517/&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;8957517&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(SICI)1096-8628(19961202)66:1&lt;75::AID-AJMG17&gt;3.0.CO;2-N&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="8957517">Fraser (1996)</a>, the message of <a href="#11" class="mim-tip-reference" title="Lurie, I. W., Ferencz, C. &lt;strong&gt;&#x27;Shifted&#x27; threshold may explain diversity of cardiovascular malformations in multiple congenital abnormalities syndromes: 3C (Ritscher-Schinzel) syndrome as an example.&lt;/strong&gt; Am. J. Med. Genet. 66: 72-74, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8957516/&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;8957516&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(SICI)1096-8628(19961202)66:1&lt;72::AID-AJMG16&gt;3.0.CO;2-N&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="8957516">Lurie and Ferencz (1996)</a> is that each embryo has specific constellations of genes that determine its liability to specific malformations; a major insult, such as a 3C mutant gene or an environmental teratogen, may destabilize several developmental systems; the type of malformation produced will depend on how the embryo's genes influence its particular set of developmental patterns and hence its susceptibilities. That may be why the same mutant gene causes different malformations in different embryos. <a href="#5" class="mim-tip-reference" title="Fraser, F. C. &lt;strong&gt;Liability, thresholds, malformations, and syndromes. (Editorial)&lt;/strong&gt; Am. J. Med. Genet. 66: 75-76, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8957517/&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;8957517&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(SICI)1096-8628(19961202)66:1&lt;75::AID-AJMG17&gt;3.0.CO;2-N&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="8957517">Fraser (1996)</a> suggested that if the above is true the (unexposed) near relatives of children with phenytoin-induced cleft lip may have an increased frequency of cleft lip, and likewise for valproate-induced neural tube defects. The frequency of cleft lip should be higher in sibs when Meckel syndrome (<a href="/entry/249000">249000</a>) patients have cleft lip than when they do not. A frequency of heart malformations should increase in the sibs of patients with any syndrome in which heart malformations sometimes, but not always, occur. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8957516+8957517" 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>On review of previously reported cases and study of 2 new cases of Ritscher-Schinzel syndrome, <a href="#9" class="mim-tip-reference" title="Kosaki, K., Curry, C. J., Roeder, E., Jones, K. L. &lt;strong&gt;Ritscher-Schinzel (3C) syndrome: documentation of the phenotype.&lt;/strong&gt; Am. J. Med. Genet. 68: 421-427, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9021015/&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;9021015&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1096-8628(19970211)68:4&lt;421::aid-ajmg10&gt;3.0.co;2-u&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="9021015">Kosaki et al. (1997)</a> demonstrated: (1) Although varying degrees of vermis hypoplasia are accompanied by hypotonia, delayed gross motor function improves with advancing age, leaving speech delay as the major neurodevelopmental handicap. (2) Two different types of cardiac anomalies occur: defects of the endocardial cushion ranging from anomalies of the mitral or tricuspid valves to complete AV canal, and/or conotruncal defects. (3) Postnatal growth deficiency was seen in most patients in whom longitudinal information was available. In their review of patients with vermis hypoplasia, <a href="#9" class="mim-tip-reference" title="Kosaki, K., Curry, C. J., Roeder, E., Jones, K. L. &lt;strong&gt;Ritscher-Schinzel (3C) syndrome: documentation of the phenotype.&lt;/strong&gt; Am. J. Med. Genet. 68: 421-427, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9021015/&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;9021015&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1096-8628(19970211)68:4&lt;421::aid-ajmg10&gt;3.0.co;2-u&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="9021015">Kosaki et al. (1997)</a> identified a patient diagnosed as having Joubert syndrome (<a href="/entry/213300">213300</a>) who had most findings of the Ritscher-Schinzel syndrome, and several other patients diagnosed as having Dandy-Walker syndrome (<a href="/entry/220200">220200</a>) who likely also had Ritscher-Schinzel syndrome, suggesting that the latter disorder is more common than had been appreciated. <a href="#9" class="mim-tip-reference" title="Kosaki, K., Curry, C. J., Roeder, E., Jones, K. L. &lt;strong&gt;Ritscher-Schinzel (3C) syndrome: documentation of the phenotype.&lt;/strong&gt; Am. J. Med. Genet. 68: 421-427, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9021015/&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;9021015&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1096-8628(19970211)68:4&lt;421::aid-ajmg10&gt;3.0.co;2-u&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="9021015">Kosaki et al. (1997)</a> suggested that careful search for the subtle facial changes characteristic of Ritscher-Schinzel syndrome as well as coloboma, cleft palate/bifid uvula, short neck, syndactyly, and hypoplasia of the nails is warranted when evaluating patients with Dandy-Walker malformation with or without clinical signs of Joubert syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9021015" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#14" class="mim-tip-reference" title="Orstavik, K. H., Bechensteen, A. G., Fugelseth, D., Orderud, W. &lt;strong&gt;Sibs with Ritscher-Schinzel (3C) syndrome and anal malformations.&lt;/strong&gt; Am. J. Med. Genet. 75: 300-303, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9475602/&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;9475602&lt;/a&gt;]" pmid="9475602">Orstavik et al. (1998)</a> described 3 sibs with this disorder, born to consanguineous Pakistani parents. All 3 children had atrial septal defects II and ventricular septal defects and died within 3 months. Two of them had a Dandy-Walker malformation, whereas 1 had only slightly dilated ventricles. One sib had anal atresia, and another a ventrally displaced anus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9475602" 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="Wheeler, P. G., Sadeghi-Nejad, A., Elias, E. R. &lt;strong&gt;The 3C syndrome: evolution of the phenotype and growth hormone deficiency.&lt;/strong&gt; Am. J. Med. Genet. 87: 61-64, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10528249/&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;10528249&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1096-8628(19991105)87:1&lt;61::aid-ajmg12&gt;3.0.co;2-k&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="10528249">Wheeler et al. (1999)</a> stated that at least 20 individuals with this condition had been reported. They described a girl with the 3C syndrome who at the age of 13 years was the oldest patient reported. She had been followed since birth, allowing them to show the evolution of her phenotype. In addition, she had documented growth hormone deficiency. <a href="#22" class="mim-tip-reference" title="Wheeler, P. G., Sadeghi-Nejad, A., Elias, E. R. &lt;strong&gt;The 3C syndrome: evolution of the phenotype and growth hormone deficiency.&lt;/strong&gt; Am. J. Med. Genet. 87: 61-64, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10528249/&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;10528249&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1096-8628(19991105)87:1&lt;61::aid-ajmg12&gt;3.0.co;2-k&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="10528249">Wheeler et al. (1999)</a> suggested that growth hormone deficiency should be considered as a possible cause of the short stature often seen in this condition. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10528249" 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="#10" class="mim-tip-reference" title="Leonardi, M. L., Pai, G. S., Wilkes, B., Lebel, R. R. &lt;strong&gt;Ritscher-Schinzel cranio-cerebello-cardiac (3C) syndrome: report of four new cases and review.&lt;/strong&gt; Am. J. Med. Genet. 102: 237-242, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11484200/&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;11484200&lt;/a&gt;]" pmid="11484200">Leonardi et al. (2001)</a> reported 4 cases of the Ritscher-Schinzel syndrome and reviewed all reported cases. Of the 9 craniofacial anomalies commonly reported as part of the syndrome, they concluded that cleft palate and ocular coloboma are the most readily and objectively ascertainable. The other 7 craniofacial traits, however, are somewhat subjective, require expert interpretation, and are sometimes difficult to ascertain in a newborn or stillborn fetus. The 7 other traits are prominent forehead, prominent occiput, hypertelorism, downslanting palpebral fissures, low-set ears, depressed nasal bridge, and micrognathia. At least 4 of these were present in all cases that had a secure diagnosis of the syndrome. <a href="#10" class="mim-tip-reference" title="Leonardi, M. L., Pai, G. S., Wilkes, B., Lebel, R. R. &lt;strong&gt;Ritscher-Schinzel cranio-cerebello-cardiac (3C) syndrome: report of four new cases and review.&lt;/strong&gt; Am. J. Med. Genet. 102: 237-242, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11484200/&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;11484200&lt;/a&gt;]" pmid="11484200">Leonardi et al. (2001)</a> proposed the following criteria for the diagnosis of this syndrome in a chromosomally normal sporadic case: the presence of cardiac malformation other than isolated patent ductus arteriosus (see <a href="/entry/607411">607411</a>), cerebellar malformation, and cleft palate or ocular coloboma, or 4 of the 7 more subjective traits. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11484200" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#15" class="mim-tip-reference" title="Papadopoulou, E., Sifakis, S., Rogalidou, M., Makrigiannakis, A., Giannakopoulou, C., Petersen, M. B. &lt;strong&gt;3C syndrome with cryptorchidism and posterior embryotoxon.&lt;/strong&gt; Clin. Dysmorph. 14: 97-100, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15770133/&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;15770133&lt;/a&gt;]" pmid="15770133">Papadopoulou et al. (2005)</a> reported a male child with 3C syndrome who, in addition to previously reported features, had Wormian bones of the skull, intraabdominal testes, and posterior embryotoxon. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15770133" 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="#8" class="mim-tip-reference" title="Iyer, P., Smith, R. &lt;strong&gt;Severe feeding difficulties in 3C syndrome.&lt;/strong&gt; Clin. Dysmorph. 14: 101-103, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15770134/&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;15770134&lt;/a&gt;]" pmid="15770134">Iyer and Smith (2005)</a> described a patient with 3C syndrome. The female infant presented with the characteristic features of Dandy-Walker malformation of the brain, congenital cardiac defect, dysmorphic facies, and postnatal growth failure. She had gastroesophageal reflux and severe feeding difficulties which were still present at the age of 4 years. Despite her numerous medical problems, she demonstrated near-normal development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15770134" 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="Craft, E., Wildig, C. E., Crow, Y. J. &lt;strong&gt;3C syndrome. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 152A: 1026-1027, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19504608/&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;19504608&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.32820&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="19504608">Craft et al. (2010)</a> reported 2 sibs, a girl and a boy, born of consanguineous Pakistani parents, with features reminiscent of 3C syndrome. Both had delayed psychomotor development and dysmorphic facial features, including downslanting palpebral fissures, prominent nasal bridge, micrognathia, and small head size. Both patients and an otherwise unaffected sister had flexion contractures of the fingers; the affected sister also had flexion contractures of the large joints and scoliosis. The affected sister had marked cerebellar vermis hypoplasia, ventricular septal defect, and mitral valve stenosis, but the affected brother did not have cardiac defect or abnormal findings on brain MRI. Neither had cleft palate/Robin sequence. <a href="#1" class="mim-tip-reference" title="Craft, E., Wildig, C. E., Crow, Y. J. &lt;strong&gt;3C syndrome. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 152A: 1026-1027, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19504608/&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;19504608&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.32820&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="19504608">Craft et al. (2010)</a> noted that there is phenotypic variability in 3C syndrome, but also suggested some overlap with the phenotype (<a href="/entry/611961">611961</a>) in 2 sisters reported by <a href="#20" class="mim-tip-reference" title="Stevenson, D. A., Carey, J. C. &lt;strong&gt;A novel multiple congenital anomaly-mental retardation syndrome with Pierre Robin sequence and cerebellar hypoplasia in two sisters.&lt;/strong&gt; Am. J. Med. Genet. 143A: 2221-2226, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17764080/&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;17764080&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.31945&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="17764080">Stevenson and Carey (2007)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17764080+19504608" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#19" class="mim-tip-reference" title="Stevens, C. A., Lachman, R. S. &lt;strong&gt;New lethal skeletal dysplasia with Dandy-Walker malformation, congenital heart defects, abnormal thumbs, hypoplastic genitalia, and distinctive facies.&lt;/strong&gt; Am. J. Med. Genet. 152A: 1915-1918, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20602491/&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;20602491&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=20602491[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.33488&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="20602491">Stevens and Lachman (2010)</a> described 2 sibs, a stillborn male born at 27 weeks' gestation and a female born at 31 weeks' gestation who died at 7 days of age, with a phenotype characterized by Dandy-Walker malformation, congenital heart defects, joint contractures, genital hypoplasia, distinctive facial features, rhizomelic and mesomelic limb shortening, hooked clavicles, dumbbell femurs, and absent talus and calcaneus ossification. Because of the bone anomalies, <a href="#19" class="mim-tip-reference" title="Stevens, C. A., Lachman, R. S. &lt;strong&gt;New lethal skeletal dysplasia with Dandy-Walker malformation, congenital heart defects, abnormal thumbs, hypoplastic genitalia, and distinctive facies.&lt;/strong&gt; Am. J. Med. Genet. 152A: 1915-1918, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20602491/&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;20602491&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=20602491[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.33488&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="20602491">Stevens and Lachman (2010)</a> suggested that the phenotype in these sibs was different from other skeletal disorders with Dandy-Walker malformation, including Ritscher-Schinzel syndrome, and represented a previously undescribed autosomal recessive lethal skeletal dysplasia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20602491" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="DeScipio, C., Schneider, L., Young, T. L., Wasserman, N., Yaeger, D., Lu, F., Wheeler, P. G., Williams, M. S., Bason, L., Jukofsky, L., Menon, A., Geschwindt, R., Chudley, A. E., Saraiva, J., Schinzel, A. A. G. L., Guichet, A., Dobyns, W. E., Toutain, A., Spinner, N. B., Krantz, I. D. &lt;strong&gt;Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome.&lt;/strong&gt; Am. J. Med. Genet. 134A: 3-11, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15704124/&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;15704124&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.30573&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="15704124">DeScipio et al. (2005)</a> noted considerable phenotypic overlap between chromosome 6pter-p24 deletion syndrome (<a href="/entry/612582">612582</a>) and 3C syndrome. They did not identify deletions of chromosome 6p in 7 additional unrelated patients with 3C syndrome, including the original family reported by <a href="#16" class="mim-tip-reference" title="Ritscher, D., Schinzel, A., Boltshauser, E., Briner, J., Arbenz, U., Sigg, P. &lt;strong&gt;Dandy-Walker (like) malformation, atrio-ventricular septal defect and a similar pattern of minor anomalies in 2 sisters: a new syndrome?&lt;/strong&gt; Am. J. Med. Genet. 26: 481-491, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3812597/&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;3812597&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320260227&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="3812597">Ritscher et al. (1987)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15704124+3812597" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#18" class="mim-tip-reference" title="Stellingwerff, H.-J., van Hagen, J. M., ten Kate, L. P. &lt;strong&gt;Segregation ratio in cranio-cerebello-cardiac syndrome.&lt;/strong&gt; Europ. J. Hum. Genet. 14: 1054-1057, 2006.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16736035/&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;16736035&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/sj.ejhg.5201660&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="16736035">Stellingwerff et al. (2006)</a> performed segregation analysis on 27 pedigrees with 3C syndrome selected from the literature. The results of 3 different methods were consistent with autosomal recessive inheritance. However, the authors emphasized that reporting of patients with 3C syndrome should include evaluation of chromosome 6p copy number, as subtelomeric chromosome 6p deletion has been associated with a similar phenotype (<a href="#2" class="mim-tip-reference" title="DeScipio, C., Schneider, L., Young, T. L., Wasserman, N., Yaeger, D., Lu, F., Wheeler, P. G., Williams, M. S., Bason, L., Jukofsky, L., Menon, A., Geschwindt, R., Chudley, A. E., Saraiva, J., Schinzel, A. A. G. L., Guichet, A., Dobyns, W. E., Toutain, A., Spinner, N. B., Krantz, I. D. &lt;strong&gt;Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome.&lt;/strong&gt; Am. J. Med. Genet. 134A: 3-11, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15704124/&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;15704124&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.30573&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="15704124">DeScipio et al., 2005</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16736035+15704124" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The transmission pattern of Ritscher-Schinzel syndrome in the families reported by <a href="#12" class="mim-tip-reference" title="Marles, S. L., Chodirker, B. N., Greenberg, C. R., Chudley, A. E. &lt;strong&gt;Evidence for Ritscher-Schinzel syndrome in Canadian native Indians.&lt;/strong&gt; Am. J. Med. Genet. 56: 343-350, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7604842/&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;7604842&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320560402&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="7604842">Marles et al. (1995)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7604842" 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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<h4 href="#mimMolecularGeneticsFold" id="mimMolecularGeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Molecular Genetics</strong>
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<p>In 11 patients with Ritscher-Schinzel syndrome from an isolated community in northern Manitoba, Canada, <a href="#4" class="mim-tip-reference" title="Elliott, A. M., Simard, L. R., Coghlan, G., Chudley, A. E., Chodirker, B. N., Greenberg, C. R., Burch, T., Ly, V., Hatch, G. M., Zelinski, T. &lt;strong&gt;A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort.&lt;/strong&gt; J. Med. Genet. 50: 819-822, 2013.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/24065355/&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;24065355&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmedgenet-2013-101715&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="24065355">Elliott et al. (2013)</a> identified a homozygous splice site mutation in the KIAA0196 gene (<a href="/entry/610657#0004">610657.0004</a>). The mutation was found by homozygosity mapping followed by candidate gene sequencing, and segregated with the disorder in the families. Four of the patients had previously been reported by <a href="#12" class="mim-tip-reference" title="Marles, S. L., Chodirker, B. N., Greenberg, C. R., Chudley, A. E. &lt;strong&gt;Evidence for Ritscher-Schinzel syndrome in Canadian native Indians.&lt;/strong&gt; Am. J. Med. Genet. 56: 343-350, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7604842/&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;7604842&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320560402&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="7604842">Marles et al. (1995)</a>. Analysis of patient cells showed an 8-fold decrease in KIAA0196 mRNA compared to controls, suggesting that the mutant transcript may be subject to nonsense-mediated mRNA decay. Western blot analysis showed that the protein was reduced by 60% compared to controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=24065355+7604842" 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>Population Genetics</strong>
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<p><a href="#12" class="mim-tip-reference" title="Marles, S. L., Chodirker, B. N., Greenberg, C. R., Chudley, A. E. &lt;strong&gt;Evidence for Ritscher-Schinzel syndrome in Canadian native Indians.&lt;/strong&gt; Am. J. Med. Genet. 56: 343-350, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7604842/&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;7604842&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320560402&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="7604842">Marles et al. (1995)</a> and <a href="#4" class="mim-tip-reference" title="Elliott, A. M., Simard, L. R., Coghlan, G., Chudley, A. E., Chodirker, B. N., Greenberg, C. R., Burch, T., Ly, V., Hatch, G. M., Zelinski, T. &lt;strong&gt;A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort.&lt;/strong&gt; J. Med. Genet. 50: 819-822, 2013.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/24065355/&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;24065355&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmedgenet-2013-101715&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="24065355">Elliott et al. (2013)</a> reported Ritscher-Schinzel syndrome in First Nation patients from an isolated, remote community in northern Manitoba, Canada. Eleven patients were found to carry the same homozygous splice site mutation in the KIAA0196 gene (<a href="/entry/610657#0004">610657.0004</a>), consistent with a founder effect. Fifteen of 133 newborn blood spot samples from the same population were heterozygous for the mutation, indicating that 1 in 9 individuals from this region is a carrier of the disorder. This result predicted that 1 in 325 children in the next generation will have the Ritscher-Schinzel syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=24065355+7604842" 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="references"class="mim-anchor"></a>
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<strong>REFERENCES</strong>
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<ol>
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<a id="1" class="mim-anchor"></a>
<a id="Craft2010" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Craft, E., Wildig, C. E., Crow, Y. J.
<strong>3C syndrome. (Letter)</strong>
Am. J. Med. Genet. 152A: 1026-1027, 2010.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19504608/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19504608</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19504608" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.a.32820" target="_blank">Full Text</a>]
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<a id="2" class="mim-anchor"></a>
<a id="DeScipio2005" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
DeScipio, C., Schneider, L., Young, T. L., Wasserman, N., Yaeger, D., Lu, F., Wheeler, P. G., Williams, M. S., Bason, L., Jukofsky, L., Menon, A., Geschwindt, R., Chudley, A. E., Saraiva, J., Schinzel, A. A. G. L., Guichet, A., Dobyns, W. E., Toutain, A., Spinner, N. B., Krantz, I. D.
<strong>Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome.</strong>
Am. J. Med. Genet. 134A: 3-11, 2005.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15704124/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15704124</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15704124" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.a.30573" target="_blank">Full Text</a>]
</p>
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<a id="3" class="mim-anchor"></a>
<a id="Digilio1995" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Digilio, M. C., Marino, B., Giannotti, A., Mingarelli, R., Dallapiccola, B.
<strong>Atrioventricular canal and 3C (cranio-cerebello-cardiac) syndrome. (Letter)</strong>
Am. J. Med. Genet. 58: 97-98, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7573166/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7573166</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7573166" 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.1320580120" target="_blank">Full Text</a>]
</p>
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<a id="4" class="mim-anchor"></a>
<a id="Elliott2013" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Elliott, A. M., Simard, L. R., Coghlan, G., Chudley, A. E., Chodirker, B. N., Greenberg, C. R., Burch, T., Ly, V., Hatch, G. M., Zelinski, T.
<strong>A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort.</strong>
J. Med. Genet. 50: 819-822, 2013.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24065355/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24065355</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24065355" 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/jmedgenet-2013-101715" target="_blank">Full Text</a>]
</p>
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<a id="5" class="mim-anchor"></a>
<a id="Fraser1996" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Fraser, F. C.
<strong>Liability, thresholds, malformations, and syndromes. (Editorial)</strong>
Am. J. Med. Genet. 66: 75-76, 1996.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8957517/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8957517</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8957517" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/(SICI)1096-8628(19961202)66:1&lt;75::AID-AJMG17&gt;3.0.CO;2-N" target="_blank">Full Text</a>]
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<a id="Gurrieri1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Gurrieri, F., Neri, G.
<strong>An additional patient with the 3C syndrome.</strong>
Clin. Genet. 41: 263-265, 1992.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1606716/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1606716</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1606716" 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.1399-0004.1992.tb03678.x" target="_blank">Full Text</a>]
</p>
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<a id="7" class="mim-anchor"></a>
<a id="Hoo1994" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Hoo, J. J., Kreiter, M., Halverson, N., Perszyk, A.
<strong>3C (cranio-cerebello-cardiac) syndrome: a recently delineated and easily recognizable congenital malformation syndrome.</strong>
Am. J. Med. Genet. 52: 66-69, 1994.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7977465/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7977465</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7977465" 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.1320520113" target="_blank">Full Text</a>]
</p>
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<a id="8" class="mim-anchor"></a>
<a id="Iyer2005" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Iyer, P., Smith, R.
<strong>Severe feeding difficulties in 3C syndrome.</strong>
Clin. Dysmorph. 14: 101-103, 2005.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15770134/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15770134</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15770134" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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</li>
<li>
<a id="9" class="mim-anchor"></a>
<a id="Kosaki1997" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kosaki, K., Curry, C. J., Roeder, E., Jones, K. L.
<strong>Ritscher-Schinzel (3C) syndrome: documentation of the phenotype.</strong>
Am. J. Med. Genet. 68: 421-427, 1997.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9021015/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9021015</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9021015" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/(sici)1096-8628(19970211)68:4&lt;421::aid-ajmg10&gt;3.0.co;2-u" target="_blank">Full Text</a>]
</p>
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<a id="10" class="mim-anchor"></a>
<a id="Leonardi2001" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Leonardi, M. L., Pai, G. S., Wilkes, B., Lebel, R. R.
<strong>Ritscher-Schinzel cranio-cerebello-cardiac (3C) syndrome: report of four new cases and review.</strong>
Am. J. Med. Genet. 102: 237-242, 2001.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11484200/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11484200</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11484200" 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="11" class="mim-anchor"></a>
<a id="Lurie1996" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Lurie, I. W., Ferencz, C.
<strong>'Shifted' threshold may explain diversity of cardiovascular malformations in multiple congenital abnormalities syndromes: 3C (Ritscher-Schinzel) syndrome as an example.</strong>
Am. J. Med. Genet. 66: 72-74, 1996.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8957516/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8957516</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8957516" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/(SICI)1096-8628(19961202)66:1&lt;72::AID-AJMG16&gt;3.0.CO;2-N" target="_blank">Full Text</a>]
</p>
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<a id="12" class="mim-anchor"></a>
<a id="Marles1995" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Marles, S. L., Chodirker, B. N., Greenberg, C. R., Chudley, A. E.
<strong>Evidence for Ritscher-Schinzel syndrome in Canadian native Indians.</strong>
Am. J. Med. Genet. 56: 343-350, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7604842/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7604842</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7604842" 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.1320560402" target="_blank">Full Text</a>]
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<a id="Mims1989" class="mim-anchor"></a>
<div class="">
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Mims, L. C., Say, B.
<strong>3C syndrome: another case. (Letter)</strong>
Clin. Genet. 36: 465 only, 1989.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2591075/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2591075</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2591075" 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.1399-0004.1989.tb03380.x" target="_blank">Full Text</a>]
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<a id="Orstavik1998" class="mim-anchor"></a>
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Orstavik, K. H., Bechensteen, A. G., Fugelseth, D., Orderud, W.
<strong>Sibs with Ritscher-Schinzel (3C) syndrome and anal malformations.</strong>
Am. J. Med. Genet. 75: 300-303, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9475602/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9475602</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9475602" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Papadopoulou2005" class="mim-anchor"></a>
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Papadopoulou, E., Sifakis, S., Rogalidou, M., Makrigiannakis, A., Giannakopoulou, C., Petersen, M. B.
<strong>3C syndrome with cryptorchidism and posterior embryotoxon.</strong>
Clin. Dysmorph. 14: 97-100, 2005.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15770133/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15770133</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15770133" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Ritscher1987" class="mim-anchor"></a>
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Ritscher, D., Schinzel, A., Boltshauser, E., Briner, J., Arbenz, U., Sigg, P.
<strong>Dandy-Walker (like) malformation, atrio-ventricular septal defect and a similar pattern of minor anomalies in 2 sisters: a new syndrome?</strong>
Am. J. Med. Genet. 26: 481-491, 1987.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3812597/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3812597</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3812597" 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.1320260227" target="_blank">Full Text</a>]
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<a id="Saraiva1995" class="mim-anchor"></a>
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Saraiva, J. M., Gama, E., Moreira Pires, M., Sequeira, J. F.
<strong>First report of glaucoma as a feature of the 3C syndrome.</strong>
Clin. Dysmorph. 4: 156-160, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7606323/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7606323</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7606323" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Stellingwerff2006" class="mim-anchor"></a>
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Stellingwerff, H.-J., van Hagen, J. M., ten Kate, L. P.
<strong>Segregation ratio in cranio-cerebello-cardiac syndrome.</strong>
Europ. J. Hum. Genet. 14: 1054-1057, 2006.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16736035/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16736035</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16736035" 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.5201660" target="_blank">Full Text</a>]
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<a id="Stevens2010" class="mim-anchor"></a>
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Stevens, C. A., Lachman, R. S.
<strong>New lethal skeletal dysplasia with Dandy-Walker malformation, congenital heart defects, abnormal thumbs, hypoplastic genitalia, and distinctive facies.</strong>
Am. J. Med. Genet. 152A: 1915-1918, 2010.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20602491/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20602491</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20602491[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20602491" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.a.33488" target="_blank">Full Text</a>]
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<a id="Stevenson2007" class="mim-anchor"></a>
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Stevenson, D. A., Carey, J. C.
<strong>A novel multiple congenital anomaly-mental retardation syndrome with Pierre Robin sequence and cerebellar hypoplasia in two sisters.</strong>
Am. J. Med. Genet. 143A: 2221-2226, 2007.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17764080/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17764080</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17764080" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.a.31945" target="_blank">Full Text</a>]
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<a id="Verloes1989" class="mim-anchor"></a>
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Verloes, A., Dresse, M.-F., Jovanovic, M., Dodinval, P., Geubelle, F.
<strong>3C syndrome: third occurrence of cranio-cerebello-cardiac dysplasia (Ritscher-Schinzel syndrome).</strong>
Clin. Genet. 35: 205-208, 1989.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2650935/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2650935</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2650935" 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.1399-0004.1989.tb02929.x" target="_blank">Full Text</a>]
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<a id="Wheeler1999" class="mim-anchor"></a>
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Wheeler, P. G., Sadeghi-Nejad, A., Elias, E. R.
<strong>The 3C syndrome: evolution of the phenotype and growth hormone deficiency.</strong>
Am. J. Med. Genet. 87: 61-64, 1999.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10528249/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10528249</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10528249" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/(sici)1096-8628(19991105)87:1&lt;61::aid-ajmg12&gt;3.0.co;2-k" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 07/15/2021
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Cassandra L. Kniffin - updated : 1/6/2014<br>Nara Sobreira - updated : 4/9/2013<br>Cassandra L. Kniffin - updated : 10/24/2011<br>Cassandra L. Kniffin - updated : 11/8/2010<br>Marla J. F. O'Neill - updated : 10/9/2009<br>Cassandra L. Kniffin - updated : 9/29/2006<br>Siobhan M. Dolan - updated : 4/20/2006<br>Victor A. McKusick - updated : 9/12/2001<br>Victor A. McKusick - updated : 4/12/2001<br>Victor A. McKusick - updated : 11/23/1999<br>Victor A. McKusick - updated : 3/25/1998<br>Victor A. McKusick - updated : 2/28/1997<br>Iosif W. Lurie - updated : 10/4/1996
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Creation Date:
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Victor A. McKusick : 2/9/1987
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alopez : 07/22/2021
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ckniffin : 07/15/2021<br>alopez : 12/22/2020<br>alopez : 12/22/2020<br>carol : 06/05/2020<br>joanna : 06/04/2020<br>carol : 11/07/2019<br>carol : 11/06/2019<br>carol : 01/17/2018<br>carol : 04/17/2017<br>carol : 11/24/2015<br>ckniffin : 11/19/2015<br>carol : 1/7/2014<br>ckniffin : 1/6/2014<br>carol : 4/9/2013<br>terry : 4/9/2012<br>carol : 10/25/2011<br>terry : 10/25/2011<br>ckniffin : 10/24/2011<br>wwang : 11/15/2010<br>ckniffin : 11/8/2010<br>wwang : 10/12/2009<br>terry : 10/9/2009<br>mgross : 5/15/2009<br>wwang : 10/6/2006<br>ckniffin : 9/29/2006<br>carol : 4/24/2006<br>terry : 4/20/2006<br>tkritzer : 1/20/2005<br>mgross : 3/17/2004<br>mgross : 12/10/2002<br>mcapotos : 9/17/2001<br>mcapotos : 9/12/2001<br>mcapotos : 4/24/2001<br>mcapotos : 4/18/2001<br>terry : 4/12/2001<br>terry : 11/23/1999<br>terry : 6/11/1999<br>alopez : 3/25/1998<br>terry : 3/17/1998<br>mark : 2/28/1997<br>terry : 2/24/1997<br>carol : 10/4/1996<br>marlene : 10/4/1996<br>mark : 8/21/1995<br>terry : 5/25/1995<br>carol : 10/24/1994<br>mimadm : 2/19/1994<br>carol : 6/18/1992<br>supermim : 3/16/1992
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<strong>#</strong> 220210
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RITSCHER-SCHINZEL SYNDROME 1; RTSC1
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<em>Alternative titles; symbols</em>
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CRANIOCEREBELLOCARDIAC DYSPLASIA<br />
3C SYNDROME<br />
DANDY-WALKER-LIKE MALFORMATION WITH ATRIOVENTRICULAR SEPTAL DEFECT
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<strong>SNOMEDCT:</strong> 718556007; &nbsp;
<strong>ORPHA:</strong> 7; &nbsp;
<strong>DO:</strong> 0060571; &nbsp;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<span class="mim-font">
8q24.13
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Ritscher-Schinzel syndrome 1
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220210
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Autosomal recessive
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3
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WASHC5
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610657
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that Ritscher-Schinzel syndrome-1 (RTSC1) is caused by homozygous mutation in the WASHC5 gene (610657) on chromosome 8q24.</p>
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<strong>Description</strong>
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<p>The 3C syndrome, also known as Ritscher-Schinzel syndrome, is a developmental malformation syndrome characterized by craniofacial abnormalities, congenital heart defects, and cerebellar brain malformations. Facial features include prominent occiput, prominent forehead, low-set ears, downslanting palpebral fissures, depressed nasal bridge, and micrognathia. Cardiac defects can include septal defects and aortic stenosis, among others, and brain imaging shows Dandy-Walker malformation, cerebellar vermis hypoplasia, posterior fossa cysts, and ventricular dilatation. Affected individuals have delayed psychomotor development (summary by Leonardi et al., 2001; Elliott et al., 2013). </p><p><strong><em>Genetic Heterogeneity of Ritscher-Schinzel Syndrome</em></strong></p><p>
See also RTSC2 (300963), caused by mutation in the CCDC22 gene (300859) on chromosome Xp11; RTSC3 (619135), caused by mutation in the VPS35L gene (618981) on chromosome 16p12; and RTSC4 (619435), caused by mutation in the DPYSL5 gene (608383) on chromosome 2p23.</p>
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<strong>Clinical Features</strong>
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<p>Ritscher et al. (1987) provided the first description of this disorder in 2 affected sisters; see RTSC4, 619435. </p><p>Marles et al. (1995) observed 3 male and 5 female Canadian children from 7 families with features they considered to represent the Ritscher-Schinzel syndrome. Three of the families were related. The parents of the 2 affected sibs were consanguineous, but the other 2 sets of parents in these 3 families were not, to the best of their knowledge. All parents and other sibs were clinically unaffected, with parental ages ranging from 21 to 33 years. In addition to a distinctive facial appearance, the affected children showed variable combinations of ocular colobomas, hypertelorism, macrocephaly, hand anomalies, congenital heart defects, structural CNS posterior fossa malformations, and mental retardation. Ocular coloboma occurred in 6 of the patients. </p><p>Elliott et al. (2013) reported 11 patients from the First Nation isolated population in northern Manitoba, Canada, with RTSC1 confirmed by genetic analysis. Four of the patients had previously been reported by Marles et al. (1995). All patients had intellectual disability and dysmorphic facial features, including macrocephaly, brachycephaly, prominent forehead, low posterior hairline, wide and downslanting palpebral fissures, hypertelorism, and low-set ears. Three patients had ocular coloboma. Six patients had variable cardiac septal defects. Central nervous system abnormalities included Dandy-Walker malformation (4 patients), enlarged ventricles, hypoplasia of the cerebellar vermis, and increased cerebrospinal fluid in various brain regions. </p><p>Verloes et al. (1989) described an isolated case in a daughter of nonconsanguineous parents. The child showed wide fontanels and facial dysmorphism (evoking cleidocranial dysplasia), cerebellar vermis hypoplasia, aplasia of the first ribs, multifocal sternal ossification centers, and cardiac septal defects. Mims and Say (1989) reported a case. Gurrieri and Neri (1992) reported a case of a child who showed camptodactyly of the fifth finger and hypoplasia of terminal phalanges with microonychia. Hoo et al. (1994) described 2 unrelated patients. They emphasized the presence of high and prominent forehead, hypoplastic vermis and cyst of the posterior fossa with or without hydrocephalus, and an atrial or atrioventricular septal defect with or without other heart anomalies. Among 162 non-Down syndrome cases of atrioventricular canal, Digilio et al. (1995) found 1 patient they considered to have the 3C (craniocerebellocardiac) syndrome. </p><p>Saraiva et al. (1995) described an affected female infant with facial dysmorphism, cerebellar hypoplasia, hydrocephaly, Dandy-Walker malformation, atrial septal defects, abnormal vertebral segmentation, and syndactyly of toes 4-5. In addition to these typical manifestations of the 3C syndrome, the patient also had glaucoma. </p><p>In an analysis of cardiovascular malformations (CVM) in the 3C syndrome, Lurie and Ferencz (1996) found at least 9 types of CVM in 24 cases, including 4 cases from the Baltimore-Washington infant study. The proportion of the different CVM forms were similar to that of the general population. They pointed out that the same is also true for many other syndromes of multiple congenital abnormalities (MCA), due either to aneuploidy or to mendelian mutation. They proposed the hypothesis that the basic mutation (or chromosome imbalance) affects cellular homeostasis and leads to the shifting of a threshold to the left. This allows the expression of some genes silent under normal conditions. Fraser (1996) pointed out that their observations drew attention to an important but underappreciated relationship, namely, that factors influencing susceptibility to specific malformations may act by influencing the normal developmental pattern. This idea is based on the multifactorial threshold model, which postulates that many genes and environmental factors interact to determine a continuous distribution of susceptibility (liability), which is separated by a threshold into discontinuous parts, i.e., affected and unaffected. In the view of Fraser (1996), the message of Lurie and Ferencz (1996) is that each embryo has specific constellations of genes that determine its liability to specific malformations; a major insult, such as a 3C mutant gene or an environmental teratogen, may destabilize several developmental systems; the type of malformation produced will depend on how the embryo's genes influence its particular set of developmental patterns and hence its susceptibilities. That may be why the same mutant gene causes different malformations in different embryos. Fraser (1996) suggested that if the above is true the (unexposed) near relatives of children with phenytoin-induced cleft lip may have an increased frequency of cleft lip, and likewise for valproate-induced neural tube defects. The frequency of cleft lip should be higher in sibs when Meckel syndrome (249000) patients have cleft lip than when they do not. A frequency of heart malformations should increase in the sibs of patients with any syndrome in which heart malformations sometimes, but not always, occur. </p><p>On review of previously reported cases and study of 2 new cases of Ritscher-Schinzel syndrome, Kosaki et al. (1997) demonstrated: (1) Although varying degrees of vermis hypoplasia are accompanied by hypotonia, delayed gross motor function improves with advancing age, leaving speech delay as the major neurodevelopmental handicap. (2) Two different types of cardiac anomalies occur: defects of the endocardial cushion ranging from anomalies of the mitral or tricuspid valves to complete AV canal, and/or conotruncal defects. (3) Postnatal growth deficiency was seen in most patients in whom longitudinal information was available. In their review of patients with vermis hypoplasia, Kosaki et al. (1997) identified a patient diagnosed as having Joubert syndrome (213300) who had most findings of the Ritscher-Schinzel syndrome, and several other patients diagnosed as having Dandy-Walker syndrome (220200) who likely also had Ritscher-Schinzel syndrome, suggesting that the latter disorder is more common than had been appreciated. Kosaki et al. (1997) suggested that careful search for the subtle facial changes characteristic of Ritscher-Schinzel syndrome as well as coloboma, cleft palate/bifid uvula, short neck, syndactyly, and hypoplasia of the nails is warranted when evaluating patients with Dandy-Walker malformation with or without clinical signs of Joubert syndrome. </p><p>Orstavik et al. (1998) described 3 sibs with this disorder, born to consanguineous Pakistani parents. All 3 children had atrial septal defects II and ventricular septal defects and died within 3 months. Two of them had a Dandy-Walker malformation, whereas 1 had only slightly dilated ventricles. One sib had anal atresia, and another a ventrally displaced anus. </p><p>Wheeler et al. (1999) stated that at least 20 individuals with this condition had been reported. They described a girl with the 3C syndrome who at the age of 13 years was the oldest patient reported. She had been followed since birth, allowing them to show the evolution of her phenotype. In addition, she had documented growth hormone deficiency. Wheeler et al. (1999) suggested that growth hormone deficiency should be considered as a possible cause of the short stature often seen in this condition. </p><p>Leonardi et al. (2001) reported 4 cases of the Ritscher-Schinzel syndrome and reviewed all reported cases. Of the 9 craniofacial anomalies commonly reported as part of the syndrome, they concluded that cleft palate and ocular coloboma are the most readily and objectively ascertainable. The other 7 craniofacial traits, however, are somewhat subjective, require expert interpretation, and are sometimes difficult to ascertain in a newborn or stillborn fetus. The 7 other traits are prominent forehead, prominent occiput, hypertelorism, downslanting palpebral fissures, low-set ears, depressed nasal bridge, and micrognathia. At least 4 of these were present in all cases that had a secure diagnosis of the syndrome. Leonardi et al. (2001) proposed the following criteria for the diagnosis of this syndrome in a chromosomally normal sporadic case: the presence of cardiac malformation other than isolated patent ductus arteriosus (see 607411), cerebellar malformation, and cleft palate or ocular coloboma, or 4 of the 7 more subjective traits. </p><p>Papadopoulou et al. (2005) reported a male child with 3C syndrome who, in addition to previously reported features, had Wormian bones of the skull, intraabdominal testes, and posterior embryotoxon. </p><p>Iyer and Smith (2005) described a patient with 3C syndrome. The female infant presented with the characteristic features of Dandy-Walker malformation of the brain, congenital cardiac defect, dysmorphic facies, and postnatal growth failure. She had gastroesophageal reflux and severe feeding difficulties which were still present at the age of 4 years. Despite her numerous medical problems, she demonstrated near-normal development. </p><p>Craft et al. (2010) reported 2 sibs, a girl and a boy, born of consanguineous Pakistani parents, with features reminiscent of 3C syndrome. Both had delayed psychomotor development and dysmorphic facial features, including downslanting palpebral fissures, prominent nasal bridge, micrognathia, and small head size. Both patients and an otherwise unaffected sister had flexion contractures of the fingers; the affected sister also had flexion contractures of the large joints and scoliosis. The affected sister had marked cerebellar vermis hypoplasia, ventricular septal defect, and mitral valve stenosis, but the affected brother did not have cardiac defect or abnormal findings on brain MRI. Neither had cleft palate/Robin sequence. Craft et al. (2010) noted that there is phenotypic variability in 3C syndrome, but also suggested some overlap with the phenotype (611961) in 2 sisters reported by Stevenson and Carey (2007). </p><p>Stevens and Lachman (2010) described 2 sibs, a stillborn male born at 27 weeks' gestation and a female born at 31 weeks' gestation who died at 7 days of age, with a phenotype characterized by Dandy-Walker malformation, congenital heart defects, joint contractures, genital hypoplasia, distinctive facial features, rhizomelic and mesomelic limb shortening, hooked clavicles, dumbbell femurs, and absent talus and calcaneus ossification. Because of the bone anomalies, Stevens and Lachman (2010) suggested that the phenotype in these sibs was different from other skeletal disorders with Dandy-Walker malformation, including Ritscher-Schinzel syndrome, and represented a previously undescribed autosomal recessive lethal skeletal dysplasia. </p>
</span>
<div>
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</div>
<div>
<h4>
<span class="mim-font">
<strong>Cytogenetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>DeScipio et al. (2005) noted considerable phenotypic overlap between chromosome 6pter-p24 deletion syndrome (612582) and 3C syndrome. They did not identify deletions of chromosome 6p in 7 additional unrelated patients with 3C syndrome, including the original family reported by Ritscher et al. (1987). </p>
</span>
<div>
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</div>
<div>
<h4>
<span class="mim-font">
<strong>Inheritance</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Stellingwerff et al. (2006) performed segregation analysis on 27 pedigrees with 3C syndrome selected from the literature. The results of 3 different methods were consistent with autosomal recessive inheritance. However, the authors emphasized that reporting of patients with 3C syndrome should include evaluation of chromosome 6p copy number, as subtelomeric chromosome 6p deletion has been associated with a similar phenotype (DeScipio et al., 2005). </p><p>The transmission pattern of Ritscher-Schinzel syndrome in the families reported by Marles et al. (1995) was consistent with autosomal recessive inheritance. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>In 11 patients with Ritscher-Schinzel syndrome from an isolated community in northern Manitoba, Canada, Elliott et al. (2013) identified a homozygous splice site mutation in the KIAA0196 gene (610657.0004). The mutation was found by homozygosity mapping followed by candidate gene sequencing, and segregated with the disorder in the families. Four of the patients had previously been reported by Marles et al. (1995). Analysis of patient cells showed an 8-fold decrease in KIAA0196 mRNA compared to controls, suggesting that the mutant transcript may be subject to nonsense-mediated mRNA decay. Western blot analysis showed that the protein was reduced by 60% compared to controls. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Population Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Marles et al. (1995) and Elliott et al. (2013) reported Ritscher-Schinzel syndrome in First Nation patients from an isolated, remote community in northern Manitoba, Canada. Eleven patients were found to carry the same homozygous splice site mutation in the KIAA0196 gene (610657.0004), consistent with a founder effect. Fifteen of 133 newborn blood spot samples from the same population were heterozygous for the mutation, indicating that 1 in 9 individuals from this region is a carrier of the disorder. This result predicted that 1 in 325 children in the next generation will have the Ritscher-Schinzel syndrome. </p>
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div>
<ol>
<li>
<p class="mim-text-font">
Craft, E., Wildig, C. E., Crow, Y. J.
<strong>3C syndrome. (Letter)</strong>
Am. J. Med. Genet. 152A: 1026-1027, 2010.
[PubMed: 19504608]
[Full Text: https://doi.org/10.1002/ajmg.a.32820]
</p>
</li>
<li>
<p class="mim-text-font">
DeScipio, C., Schneider, L., Young, T. L., Wasserman, N., Yaeger, D., Lu, F., Wheeler, P. G., Williams, M. S., Bason, L., Jukofsky, L., Menon, A., Geschwindt, R., Chudley, A. E., Saraiva, J., Schinzel, A. A. G. L., Guichet, A., Dobyns, W. E., Toutain, A., Spinner, N. B., Krantz, I. D.
<strong>Subtelomeric deletions of chromosome 6p: molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome.</strong>
Am. J. Med. Genet. 134A: 3-11, 2005.
[PubMed: 15704124]
[Full Text: https://doi.org/10.1002/ajmg.a.30573]
</p>
</li>
<li>
<p class="mim-text-font">
Digilio, M. C., Marino, B., Giannotti, A., Mingarelli, R., Dallapiccola, B.
<strong>Atrioventricular canal and 3C (cranio-cerebello-cardiac) syndrome. (Letter)</strong>
Am. J. Med. Genet. 58: 97-98, 1995.
[PubMed: 7573166]
[Full Text: https://doi.org/10.1002/ajmg.1320580120]
</p>
</li>
<li>
<p class="mim-text-font">
Elliott, A. M., Simard, L. R., Coghlan, G., Chudley, A. E., Chodirker, B. N., Greenberg, C. R., Burch, T., Ly, V., Hatch, G. M., Zelinski, T.
<strong>A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort.</strong>
J. Med. Genet. 50: 819-822, 2013.
[PubMed: 24065355]
[Full Text: https://doi.org/10.1136/jmedgenet-2013-101715]
</p>
</li>
<li>
<p class="mim-text-font">
Fraser, F. C.
<strong>Liability, thresholds, malformations, and syndromes. (Editorial)</strong>
Am. J. Med. Genet. 66: 75-76, 1996.
[PubMed: 8957517]
[Full Text: https://doi.org/10.1002/(SICI)1096-8628(19961202)66:1&lt;75::AID-AJMG17&gt;3.0.CO;2-N]
</p>
</li>
<li>
<p class="mim-text-font">
Gurrieri, F., Neri, G.
<strong>An additional patient with the 3C syndrome.</strong>
Clin. Genet. 41: 263-265, 1992.
[PubMed: 1606716]
[Full Text: https://doi.org/10.1111/j.1399-0004.1992.tb03678.x]
</p>
</li>
<li>
<p class="mim-text-font">
Hoo, J. J., Kreiter, M., Halverson, N., Perszyk, A.
<strong>3C (cranio-cerebello-cardiac) syndrome: a recently delineated and easily recognizable congenital malformation syndrome.</strong>
Am. J. Med. Genet. 52: 66-69, 1994.
[PubMed: 7977465]
[Full Text: https://doi.org/10.1002/ajmg.1320520113]
</p>
</li>
<li>
<p class="mim-text-font">
Iyer, P., Smith, R.
<strong>Severe feeding difficulties in 3C syndrome.</strong>
Clin. Dysmorph. 14: 101-103, 2005.
[PubMed: 15770134]
</p>
</li>
<li>
<p class="mim-text-font">
Kosaki, K., Curry, C. J., Roeder, E., Jones, K. L.
<strong>Ritscher-Schinzel (3C) syndrome: documentation of the phenotype.</strong>
Am. J. Med. Genet. 68: 421-427, 1997.
[PubMed: 9021015]
[Full Text: https://doi.org/10.1002/(sici)1096-8628(19970211)68:4&lt;421::aid-ajmg10&gt;3.0.co;2-u]
</p>
</li>
<li>
<p class="mim-text-font">
Leonardi, M. L., Pai, G. S., Wilkes, B., Lebel, R. R.
<strong>Ritscher-Schinzel cranio-cerebello-cardiac (3C) syndrome: report of four new cases and review.</strong>
Am. J. Med. Genet. 102: 237-242, 2001.
[PubMed: 11484200]
</p>
</li>
<li>
<p class="mim-text-font">
Lurie, I. W., Ferencz, C.
<strong>&#x27;Shifted&#x27; threshold may explain diversity of cardiovascular malformations in multiple congenital abnormalities syndromes: 3C (Ritscher-Schinzel) syndrome as an example.</strong>
Am. J. Med. Genet. 66: 72-74, 1996.
[PubMed: 8957516]
[Full Text: https://doi.org/10.1002/(SICI)1096-8628(19961202)66:1&lt;72::AID-AJMG16&gt;3.0.CO;2-N]
</p>
</li>
<li>
<p class="mim-text-font">
Marles, S. L., Chodirker, B. N., Greenberg, C. R., Chudley, A. E.
<strong>Evidence for Ritscher-Schinzel syndrome in Canadian native Indians.</strong>
Am. J. Med. Genet. 56: 343-350, 1995.
[PubMed: 7604842]
[Full Text: https://doi.org/10.1002/ajmg.1320560402]
</p>
</li>
<li>
<p class="mim-text-font">
Mims, L. C., Say, B.
<strong>3C syndrome: another case. (Letter)</strong>
Clin. Genet. 36: 465 only, 1989.
[PubMed: 2591075]
[Full Text: https://doi.org/10.1111/j.1399-0004.1989.tb03380.x]
</p>
</li>
<li>
<p class="mim-text-font">
Orstavik, K. H., Bechensteen, A. G., Fugelseth, D., Orderud, W.
<strong>Sibs with Ritscher-Schinzel (3C) syndrome and anal malformations.</strong>
Am. J. Med. Genet. 75: 300-303, 1998.
[PubMed: 9475602]
</p>
</li>
<li>
<p class="mim-text-font">
Papadopoulou, E., Sifakis, S., Rogalidou, M., Makrigiannakis, A., Giannakopoulou, C., Petersen, M. B.
<strong>3C syndrome with cryptorchidism and posterior embryotoxon.</strong>
Clin. Dysmorph. 14: 97-100, 2005.
[PubMed: 15770133]
</p>
</li>
<li>
<p class="mim-text-font">
Ritscher, D., Schinzel, A., Boltshauser, E., Briner, J., Arbenz, U., Sigg, P.
<strong>Dandy-Walker (like) malformation, atrio-ventricular septal defect and a similar pattern of minor anomalies in 2 sisters: a new syndrome?</strong>
Am. J. Med. Genet. 26: 481-491, 1987.
[PubMed: 3812597]
[Full Text: https://doi.org/10.1002/ajmg.1320260227]
</p>
</li>
<li>
<p class="mim-text-font">
Saraiva, J. M., Gama, E., Moreira Pires, M., Sequeira, J. F.
<strong>First report of glaucoma as a feature of the 3C syndrome.</strong>
Clin. Dysmorph. 4: 156-160, 1995.
[PubMed: 7606323]
</p>
</li>
<li>
<p class="mim-text-font">
Stellingwerff, H.-J., van Hagen, J. M., ten Kate, L. P.
<strong>Segregation ratio in cranio-cerebello-cardiac syndrome.</strong>
Europ. J. Hum. Genet. 14: 1054-1057, 2006.
[PubMed: 16736035]
[Full Text: https://doi.org/10.1038/sj.ejhg.5201660]
</p>
</li>
<li>
<p class="mim-text-font">
Stevens, C. A., Lachman, R. S.
<strong>New lethal skeletal dysplasia with Dandy-Walker malformation, congenital heart defects, abnormal thumbs, hypoplastic genitalia, and distinctive facies.</strong>
Am. J. Med. Genet. 152A: 1915-1918, 2010.
[PubMed: 20602491]
[Full Text: https://doi.org/10.1002/ajmg.a.33488]
</p>
</li>
<li>
<p class="mim-text-font">
Stevenson, D. A., Carey, J. C.
<strong>A novel multiple congenital anomaly-mental retardation syndrome with Pierre Robin sequence and cerebellar hypoplasia in two sisters.</strong>
Am. J. Med. Genet. 143A: 2221-2226, 2007.
[PubMed: 17764080]
[Full Text: https://doi.org/10.1002/ajmg.a.31945]
</p>
</li>
<li>
<p class="mim-text-font">
Verloes, A., Dresse, M.-F., Jovanovic, M., Dodinval, P., Geubelle, F.
<strong>3C syndrome: third occurrence of cranio-cerebello-cardiac dysplasia (Ritscher-Schinzel syndrome).</strong>
Clin. Genet. 35: 205-208, 1989.
[PubMed: 2650935]
[Full Text: https://doi.org/10.1111/j.1399-0004.1989.tb02929.x]
</p>
</li>
<li>
<p class="mim-text-font">
Wheeler, P. G., Sadeghi-Nejad, A., Elias, E. R.
<strong>The 3C syndrome: evolution of the phenotype and growth hormone deficiency.</strong>
Am. J. Med. Genet. 87: 61-64, 1999.
[PubMed: 10528249]
[Full Text: https://doi.org/10.1002/(sici)1096-8628(19991105)87:1&lt;61::aid-ajmg12&gt;3.0.co;2-k]
</p>
</li>
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Cassandra L. Kniffin - updated : 07/15/2021<br>Cassandra L. Kniffin - updated : 1/6/2014<br>Nara Sobreira - updated : 4/9/2013<br>Cassandra L. Kniffin - updated : 10/24/2011<br>Cassandra L. Kniffin - updated : 11/8/2010<br>Marla J. F. O&#x27;Neill - updated : 10/9/2009<br>Cassandra L. Kniffin - updated : 9/29/2006<br>Siobhan M. Dolan - updated : 4/20/2006<br>Victor A. McKusick - updated : 9/12/2001<br>Victor A. McKusick - updated : 4/12/2001<br>Victor A. McKusick - updated : 11/23/1999<br>Victor A. McKusick - updated : 3/25/1998<br>Victor A. McKusick - updated : 2/28/1997<br>Iosif W. Lurie - updated : 10/4/1996
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