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Entry
- #268300 - ROBERTS-SC PHOCOMELIA SYNDROME; RBS
- OMIM
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<span class="h4">#268300</span>
<br />
<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/268300"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#clinicalFeatures">Clinical Features</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#diagnosis">Diagnosis</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#cytogenetics">Cytogenetics</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#populationGenetics">Population Genetics</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<a href="#history">History</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=ROBERTS-SC PHOCOMELIA 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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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Animal Models</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.alliancegenome.org/disease/DOID:5325" 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/268300" 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/OMIA000197/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
<div><a href="https://wormbase.org/resources/disease/DOID:5325" 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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
<span class="panel-title">
<span class="small">
<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
<div style="display: table-row">
<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Cell Lines</div>
</div>
</a>
</span>
</span>
</div>
<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://catalog.coriell.org/Search?q=OmimNum:268300" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
</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> 48718006<br />
<strong>ORPHA:</strong> 3103<br />
<strong>DO:</strong> 5325<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>
268300
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
ROBERTS-SC PHOCOMELIA SYNDROME; RBS
</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">
ROBERTS SYNDROME<br />
SC PHOCOMELIA SYNDROME<br />
LONG BONE DEFICIENCIES ASSOCIATED WITH CLEFT LIP-PALATE<br />
SC PSEUDOTHALIDOMIDE SYNDROME
</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/8/158?start=-3&limit=10&highlight=158">
8p21.1
</a>
</span>
</td>
<td>
<span class="mim-font">
Roberts-SC phocomelia syndrome
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/268300"> 268300 </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">
ESCO2
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/609353"> 609353 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
<div>
<div class="btn-group ">
<a href="/clinicalSynopsis/268300" 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">
<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/268300" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/268300" 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> Height </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Birth length less than 40cm <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849359&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849359</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Weight </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Birth weight 1.5-2.2 kg <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849360&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849360</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Other </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Severe prenatal growth deficiency <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855843&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855843</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008846" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008846</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008846" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008846</a>]</span> <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><br /> -
Mild-severe postnatal growth deficiency <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849362</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> HEAD & NECK </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Head </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Microcephaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1148757008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1148757008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q02" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q02</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/742.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">742.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551563&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551563</a>, <a href="https://bioportal.bioontology.org/search?q=C0025958&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025958</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000252</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Microcephaly-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=0584d323b99dcd7001cc50e224947aca&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
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 /> -
Malar hypoplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1858085&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858085</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000272" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000272</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000272" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000272</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=679675da378a2ab79998b5e87cd5918a" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Malar_Flattening-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=679675da378a2ab79998b5e87cd5918a&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Ears </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Malformed ears <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0857379&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0857379</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000377" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000377</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000377" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000377</a>]</span><br /> -
Lobeless ears <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849364&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849364</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000387" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000387</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000387" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000387</a>]</span><br /> -
Low-set ears <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95515009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95515009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q17.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q17.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239234&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239234</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000369" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000369</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000369" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000369</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9f0956aaa4fd45c34f94336afbbdc931" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Ear,Low-Set-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=9f0956aaa4fd45c34f94336afbbdc931&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Posteriorly-angulated ears <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253251006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253251006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0431478&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0431478</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000358" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000358</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000358" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000358</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Eyes </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- 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 /> -
Shallow orbits <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1865244&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1865244</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000586" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000586</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000586" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000586</a>]</span><br /> -
Prominent eyes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837760&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837760</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000520" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000520</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000520" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000520</a>]</span><br /> -
Bluish sclerae <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204164000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204164000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q13.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q13.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0542514&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0542514</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000592" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000592</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000592" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000592</a>]</span><br /> -
Corneal clouding <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/64634000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">64634000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/413921009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">413921009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95735008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95735008</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/371.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">371.00</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0521719&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0521719</a>, <a href="https://bioportal.bioontology.org/search?q=C0010038&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0010038</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007957" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007957</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007957" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007957</a>]</span><br /> -
Microphthalmia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204108000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204108000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/61142002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">61142002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q11.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q11.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/743.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/743.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/743.11" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.11</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026010&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026010</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000568" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000568</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000568" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000568</a>]</span><br /> -
Cataract <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/193570009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">193570009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/247053007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">247053007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H26.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H26.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/366" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">366</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/366.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">366.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0086543&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0086543</a>, <a href="https://bioportal.bioontology.org/search?q=C1690964&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1690964</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000518</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000518" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000518</a>]</span><br /> -
Lid coloboma <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95202004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95202004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q10.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q10.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0521573&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0521573</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000625" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000625</a>]</span><br /> -
Exophthalmos <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/18265008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">18265008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H05.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H05.20</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/376.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">376.30</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0015300&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0015300</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000520" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000520</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000520" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000520</a>]</span><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">
- Thin nares <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249339005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249339005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0426439&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426439</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009933" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009933</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009933" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009933</a>]</span><br /> -
Hypoplastic nasal alae <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1834055&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1834055</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000430" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000430</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000430" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000430</a>]</span><br /> -
Widened nasal bridge <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249321001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249321001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849367&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849367</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000431" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000431</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000431" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000431</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Mouth </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Cleft lip <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80281008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80281008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q36" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q36</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q36.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q36.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/749.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/749.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.10</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0008924&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0008924</a>, <a href="https://bioportal.bioontology.org/search?q=C4321245&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4321245</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000204" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000204</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0410030" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0410030</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0410030" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0410030</a>]</span><br /> -
Cleft palate <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/63567004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">63567004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/87979003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">87979003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/749.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/749.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837218&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837218</a>, <a href="https://bioportal.bioontology.org/search?q=C2981150&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2981150</a>, <a href="https://bioportal.bioontology.org/search?q=C2240378&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2240378</a>, <a href="https://bioportal.bioontology.org/search?q=C0008925&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0008925</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000175" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000175</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000175" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000175</a>]</span><br /> -
High-arched palate <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/27272007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">27272007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q38.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q38.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240635&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240635</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000218" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000218</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000218" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000218</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Neck </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Short neck <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95427009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95427009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0521525&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0521525</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000470" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000470</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000470" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000470</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=5edf45ce6835f32360d28d26249e2531" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Neck,Short-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=5edf45ce6835f32360d28d26249e2531&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 /> -
Nuchal cystic hygroma <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849368&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849368</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">
- 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 /> -
Ventricular septal defect <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/30288003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">30288003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253549006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253549006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/768552007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">768552007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q21.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q21.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/745.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">745.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018818&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018818</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001629" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001629</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001629" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001629</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Vascular </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Patent ductus arteriosus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/83330001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">83330001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q25.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q25.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/747.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">747.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013274&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013274</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001643" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001643</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001643" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001643</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> Biliary Tract </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Rudimentary gallbladder <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849363&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849363</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Spleen </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Accessory spleen <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/10362008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">10362008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266631&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266631</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001747" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001747</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001747" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001747</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 /> -
Enlarged penis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/88673001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">88673001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0269011&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0269011</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000040" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000040</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000040" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000040</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> External Genitalia (Female) </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Enlarged clitoris <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80212005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80212005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N90.89" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N90.89</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/624.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">624.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0156394&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0156394</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008665" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008665</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008665" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008665</a>]</span><br /> -
Enlarged labia minora <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849358&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849358</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008683" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008683</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008683" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008683</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Internal Genitalia (Male) </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Cryptorchidism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204878001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204878001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q53.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q53.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/752.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">752.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0010417&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0010417</a>, <a href="https://bioportal.bioontology.org/search?q=C5441920&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5441920</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000028" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000028</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000028" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000028</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Internal Genitalia (Female) </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Bicornuate uterus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/31401003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">31401003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/289637001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">289637001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q51.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q51.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/752.34" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">752.34</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266387&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266387</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000813" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000813</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000813" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000813</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">
- Polycystic kidney <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/82525005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">82525005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q61.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q61.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/753.12" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">753.12</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1567435&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1567435</a>, <a href="https://bioportal.bioontology.org/search?q=C0022680&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022680</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000113" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000113</a>]</span><br /> -
Horseshoe kidney <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/41729002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">41729002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221353&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221353</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000085" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000085</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000085" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000085</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKELETAL </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Skull </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Craniosynostosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/57219006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">57219006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1421244&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1421244</a>, <a href="https://bioportal.bioontology.org/search?q=C5848303&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5848303</a>, <a href="https://bioportal.bioontology.org/search?q=C0010278&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0010278</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001363" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001363</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0005458" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005458</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001363" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001363</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Limbs </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Hypomelia (more severe in upper limbs) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849369&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849369</a>]</span><br /> -
Tetraphocomelia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849370&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849370</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030721" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030721</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030721" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030721</a>]</span><br /> -
Elbow contracture <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/239734000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">239734000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M24.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M24.52</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1833142&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1833142</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034391" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034391</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034391" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034391</a>]</span><br /> -
Absence or reduction in length of humerus, radius, or ulna <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849372&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849372</a>]</span><br /> -
Knee contracture <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M24.56" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M24.56</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837263&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837263</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034671" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034671</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034671" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034671</a>]</span><br /> -
Absence or reduction in length of femur, tibia, or fibula <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849373&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849373</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">
- Wrist contracture <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/239735004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">239735004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/202275008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">202275008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M21.23" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M21.23</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/M24.53" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M24.53</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0409345&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0409345</a>, <a href="https://bioportal.bioontology.org/search?q=C0343145&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0343145</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001239" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001239</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001239" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001239</a>]</span><br /> -
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 /> -
Clinodactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/17268007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">17268007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551485&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551485</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030084" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030084</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030084" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030084</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=6c6553591f42fb5585fec835d3e3bab3" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Clinodactyly-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=6c6553591f42fb5585fec835d3e3bab3&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 /> -
Oligodactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/71358006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">71358006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0728895&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0728895</a>, <a href="https://bioportal.bioontology.org/search?q=C3887496&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3887496</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012165" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012165</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012165" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012165</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=dacbf5d96aa9e50fb1a64ebba7a6d2de" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/nGAzv9TaTE5zrNnSGCf9KDRuVhVKb45B-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=dacbf5d96aa9e50fb1a64ebba7a6d2de&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 /> -
Brachydactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43476002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43476002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221357&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221357</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001156" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001156</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001156" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001156</a>]</span><br /> -
Metacarpal fusion <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3151607&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3151607</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Feet </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Ankle contracture <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/239740007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">239740007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0343148&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0343148</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034677" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034677</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034677" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034677</a>]</span><br /> -
Talipes equinovalgus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/68284008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">68284008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0265642&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265642</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001772" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001772</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001772" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001772</a>]</span><br /> -
Reduction in number of toes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849375&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849375</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> SKIN, NAILS, & HAIR </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Skin </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Midfacial capillary hemangioma <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849377&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849377</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007452" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007452</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007452" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007452</a>]</span><br /> -
Cafe au lait spots on trunk and extremities <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3279425&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3279425</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Hair </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Sparse hair <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1162675003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1162675003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5551005&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5551005</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008070" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008070</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008070" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008070</a>]</span><br /> -
Silvery blonde scalp hair <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849378&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849378</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> NEUROLOGIC </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Central Nervous System </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Mental retardation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/228156007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">228156007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/110359009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">110359009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/317-319.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">317-319.99</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3714756&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3714756</a>, <a href="https://bioportal.bioontology.org/search?q=C0025362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span><br /> -
Frontal encephalocele <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253103006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253103006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q01.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q01.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0431289&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0431289</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007330" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007330</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007330" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007330</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 /> -
Cranial nerve paralysis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/73013002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">73013002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151311&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151311</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006824" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006824</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006824" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006824</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> LABORATORY ABNORMALITIES </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<span class="mim-font">
- Premature separation of centromeric heterochromatin <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849316&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849316</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003616" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003616</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003616" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003616</a>]</span><br /> -
Normal karyotype <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0863140&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0863140</a>, <a href="https://bioportal.bioontology.org/search?q=C0333684&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0333684</a>]</span><br /> -
Abnormal nuclear morphology <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849376&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849376</a>]</span><br />
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- Polyhydramnios <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/86203003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">86203003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/O40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">O40</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/657.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">657.0</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/657" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">657</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020224&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020224</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001561" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001561</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001561" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001561</a>]</span><br /> -
Presence of severe midfacial and limb defects and birth length less than 37cm associated with stillborn or early infant death<br />
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- Caused by mutation in the establishment of sister chromatid cohesion N-acetyltransferase 2 gene (ESCO2, <a href="/entry/609353#0001">609353.0001</a>)<br />
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<p>A number sign (#) is used with this entry because of evidence that Roberts-SC phocomelia syndrome (RBS) is caused by homozygous or compound heterozygous mutation in the ESCO2 gene (<a href="/entry/609353">609353</a>) on chromosome 8p21.</p>
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<p>Roberts-SC phocomelia syndrome (RBS) is a rare autosomal recessive disorder clinically characterized by prenatal-onset growth retardation that continues in the postnatal period, extremity malformations, craniofacial anomalies, impaired intellectual development, and cardiac and renal anomalies. Prenatal-onset growth retardation may be mild to severe. The upper limbs are more affected than the lower limbs, where variations from tetraphocomelia (symmetrical limb reduction) to hypomelia arising from mesomelic shortness are seen. Elbow and knee contractures, reduction in the number and length of fingers, thumb aplasia and hypoplasia, and clinodactyly may also be observed. Severely affected patients may die during pregnancy or the neonatal period, whereas slightly affected patients will reach adulthood (summary by <a href="#14" class="mim-tip-reference" title="Goh, E. S-Y., Li, C., Horsburgh, S., Kasai, Y., Kolomietz, E., Morel, C. F. &lt;strong&gt;The Roberts syndrome/SC phocomelia spectrum--a case report of an adult with review of the literature.&lt;/strong&gt; Am. J. Med. Genet. 152A: 472-478, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20101700/&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;20101700&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.33261&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="20101700">Goh et al., 2010</a> and <a href="#48" class="mim-tip-reference" title="Sezer, A., Kayhan, G., Zenker, M., Percin, E. F. &lt;strong&gt;Hypopigmented patches in Roberts/SC phocomelia syndrome occur via aneuploidy susceptibility.&lt;/strong&gt; Europ. J. Med. Genet. 62: 103608, 2019. Note: Electronic Article.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/30590172/&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;30590172&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/j.ejmg.2018.12.013&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="30590172">Sezer et al., 2019</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20101700+30590172" 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="#43" class="mim-tip-reference" title="Roberts, J. B. &lt;strong&gt;A child with double cleft of lip and palate, protrusion of the intermaxillary portion of the upper jaw and imperfect development of the bones of the four extremities.&lt;/strong&gt; Ann. Surg. 70: 252-254, 1919."None>Roberts (1919)</a> described 3 affected sibs of first-cousin Italian parents. Pictures were included. The bones of the legs were almost absent and those of the arms hypoplastic. Bilateral cleft lip and cleft palate were present. The skull looked oxycephalic with prominent eyes, as in Crouzon syndrome (<a href="/entry/123500">123500</a>). The patient of <a href="#52" class="mim-tip-reference" title="Stroer, W. F. H. &lt;strong&gt;Ueber das Zusammentreffen von Hasenscharte mit ernsten Extremitaeten-Missbildungen.&lt;/strong&gt; Erbarzt 7: 101-104, 1939."None>Stroer (1939)</a>, also of first-cousin parents, may have had the same disorder. <a href="#2" class="mim-tip-reference" title="Appelt, J., Gerken, H., Lenz, W. &lt;strong&gt;Tetraphokomelie mit Lippen-Kiefer-Gaumenspalte und Klitorishypertrophie--ein Syndrom.&lt;/strong&gt; Paediat. Paedol. 2: 119-124, 1966."None>Appelt et al. (1966)</a> described cases and pointed out that clitoral or penile enlargement is a feature. Corneal opacities occur in this disorder.</p><p>In a family with surname beginning with S and another with surname beginning with C, <a href="#19" class="mim-tip-reference" title="Herrmann, J., Feingold, M., Tuffli, G. A., Opitz, J. M. &lt;strong&gt;A familial dysmorphogenetic syndrome of limb deformities, characteristic facial appearance and associated anomalies: the &#x27;pseudothalidomide&#x27; or &#x27;SC-syndrome&#x27;.&lt;/strong&gt; Birth Defects Orig. Art. Ser. V(3): 81-89, 1969."None>Herrmann et al. (1969)</a> described a syndrome consisting of the following features: (1) nearly symmetrical reductive malformations of the limbs, resembling phocomelia; (2) flexion contractures of various joints; (3) multiple minor anomalies, including capillary hemangioma of the face, forehead and ears, hypoplastic cartilages of the ears and nose, micrognathia, scanty, silvery-blond hair, and cloudy corneas; (4) intrauterine and extrauterine growth retardation; (5) possibly mental retardation, and (6) autosomal recessive inheritance.</p><p><a href="#18" class="mim-tip-reference" title="Hall, B. D., Greenberg, M. H. &lt;strong&gt;Hypomelia-hypotrichosis-facial hemangioma syndrome (pseudothalidomide, SC syndrome, SC phocomelia syndrome).&lt;/strong&gt; Am. J. Dis. Child. 123: 602-604, 1972.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/5033248/&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;5033248&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archpedi.1972.02110120126020&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="5033248">Hall and Greenberg (1972)</a> described an 8-year-old girl with SC syndrome who was mentally normal. They were impressed with hypotrichosis and midfacial hemangioma, for which reason they proposed the designation hypomelia-hypotrichosis-facial hemangioma syndrome. They emphasized a characteristic appearance of the face. Although the SC phocomelia syndrome is sometimes referred to as the pseudothalidomide syndrome, some cases of the Holt-Oram syndrome (<a href="/entry/142900">142900</a>) may be more deserving of that name (<a href="#30" class="mim-tip-reference" title="Lenz, W. D., Marquardt, E., Weicker, H. &lt;strong&gt;Pseudothalidomide syndrome.&lt;/strong&gt; Birth Defects Orig. Art. Ser. X(5): 97-107, 1974."None>Lenz et al., 1974</a>). Humeroradial synostosis was also a feature; see <a href="/entry/143050">143050</a> and <a href="/entry/236400">236400</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5033248" 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="Freeman, M. V. R., Williams, D. W., Schimke, R. N., Temtamy, S. A. &lt;strong&gt;The Roberts syndrome.&lt;/strong&gt; Clin. Genet. 5: 1-16, 1974.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/4151884/&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;4151884&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1974.tb01652.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="4151884">Freeman et al. (1974)</a> reviewed the features of Roberts syndrome. They cited the differences thought to differentiate it from SC syndrome as prominence of the external genitalia, the lack of silvery-blond hair and blue sclerae, and presence of ulnar rather than radial abnormalities of the upper extremities. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4151884" 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="Grosse, F. R., Pandel, C., Wiedemann, H. R. &lt;strong&gt;The tetraphocomelia--cleft palate syndrome: description of a new case.&lt;/strong&gt; Humangenetik 28: 353-356, 1975.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1176127/&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;1176127&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00284811&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="1176127">Grosse et al. (1975)</a> described a case of what they termed the tetraphocomelia-cleft palate syndrome. Capillary hemangioma of the glabella and lids and fine silvery-blond hair were described. The authors questioned the separateness of Roberts syndrome and SC phocomelia syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1176127" 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>By an analysis of phenotype, <a href="#20" class="mim-tip-reference" title="Herrmann, J., Opitz, J. M. &lt;strong&gt;The SC phocomelia and the Roberts syndrome: nosologic aspects.&lt;/strong&gt; Europ. J. Pediat. 125: 117-134, 1977.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/872834/&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;872834&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00489985&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="872834">Herrmann and Opitz (1977)</a> could not tell whether the SC phocomelia syndrome and the Roberts syndrome were 'due to different recessive genes, different alleles, or the same recessive gene.' <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=872834" 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>Because of overlapping features in their patient, <a href="#61" class="mim-tip-reference" title="Waldenmaier, C., Aldenhoff, P., Klemm, T. &lt;strong&gt;Roberts&#x27; syndrome.&lt;/strong&gt; Hum. Genet. 40: 345-349, 1978.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/631853/&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;631853&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00272196&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="631853">Waldenmaier et al. (1978)</a> suggested that the SC phocomelia syndrome and the TAR syndrome (<a href="/entry/274000">274000</a>) are not separate from Roberts syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=631853" 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="#53" class="mim-tip-reference" title="Tomkins, D., Hunter, A., Roberts, M. &lt;strong&gt;Cytogenetic findings in Roberts-SC phocomelia syndrome(s).&lt;/strong&gt; Am. J. Med. Genet. 4: 17-26, 1979.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/495649/&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;495649&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320040104&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="495649">Tomkins et al. (1979)</a> noted the uncertainty as to whether Roberts syndrome and the SC syndrome are separate entities. They found a consistent centromeric abnormality of the chromosomes, namely, puffing and splitting, in 4 patients who had certain clinical features in common: bilateral corneal opacities, microcephaly, absence of radii, limitation of extension at the elbows and knees, enlargement of the phallus, and survival beyond the neonatal period. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=495649" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#42" class="mim-tip-reference" title="Qazi, Q. H., Kassner, E. G., Masakawa, A., Madahar, C., Choi, S. J. &lt;strong&gt;The SC phocomelia syndrome: report of two cases with cytogenetic abnormality.&lt;/strong&gt; Am. J. Med. Genet. 4: 231-238, 1979.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/517578/&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;517578&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320040305&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="517578">Qazi et al. (1979)</a> described chromosomal abnormalities in SC phocomelia that were similar to those in Roberts syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=517578" 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="#11" class="mim-tip-reference" title="Fryns, J., Goddeeris, P., Moerman, F., Herman, F., van den Berghe, H. &lt;strong&gt;The tetraphocomelia-cleft palate syndrome in identical twins.&lt;/strong&gt; Hum. Genet. 53: 279-281, 1980.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7188929/&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;7188929&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00273512&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="7188929">Fryns et al. (1980)</a> reported identical twins concordant for the tetraphocomelia-cleft palate syndrome. Since the twins showed the severe tetraphocomelia of Roberts syndrome and the less prominent craniofacial abnormalities of the pseudothalidomide syndrome, the authors favored the view that these two entities are one. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7188929" 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="#51" class="mim-tip-reference" title="Stoll, C., Levy, J.-M., Beshara, D. &lt;strong&gt;Roberts&#x27;s syndrome and clonidine.&lt;/strong&gt; J. Med. Genet. 16: 486-487, 1979.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/537023/&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;537023&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.16.6.486&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="537023">Stoll et al. (1979)</a> raised the question of phenocopy of Roberts syndrome resulting from maternal ingestion of clonidine, an antihypertensive medication. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=537023" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="da Silva, E. O., Bezerra, L. H. G. E. &lt;strong&gt;The Roberts syndrome.&lt;/strong&gt; Hum. Genet. 61: 372-374, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7152521/&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;7152521&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00276604&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="7152521">Da Silva and Bezerra (1982)</a> reported 4 affected sibs with Roberts syndrome whose parents were first cousins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7152521" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a Christian Lebanese family, <a href="#4" class="mim-tip-reference" title="BenEzra, D., Abulafia, H., Maftzir, G., Yatziv, S., Paez, J., Zelikovitch, A. &lt;strong&gt;Radial aplasia, chromosomal aberration, and anterior chamber cleavage manifestations in two siblings.&lt;/strong&gt; Birth Defects Orig. Art. Ser. 18(6): 571-575, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7171776/&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;7171776&lt;/a&gt;]" pmid="7171776">BenEzra et al. (1982)</a> observed 2 brothers with radial aplasia and abnormality of anterior chamber cleavage in the eye. Both showed a normal XY karyotype except for unusual sister chromatid disjunction at the centromeric region during prophase and metaphase. In the first brother, the radius and thumbs were absent and the tibia and fibula were relatively short; bilateral microphthalmia with central corneal leukoma was described, as well as moderate micrognathia and aplasia of the alae nasi. The second brother had extensive facial hemangioma, total cleft palate, total aplasia of the radius and ulna, marked shortening of the humerus, absent thumbs, absent fibula, and deformed tibia. Comment concerning parental consanguinity was not made. Presumably, this disorder falls into the same group as Roberts syndrome and SC phocomelia syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7171776" 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="#54" class="mim-tip-reference" title="Tomkins, D. J., Sisken, J. E. &lt;strong&gt;Abnormalities in the cell-division cycle in Roberts syndrome fibroblasts: a cellular basis for the phenotypic characteristics?&lt;/strong&gt; Am. J. Hum. Genet. 36: 1332-1340, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6517054/&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;6517054&lt;/a&gt;]" pmid="6517054">Tomkins and Sisken (1984)</a> suggested that impediment to cellular growth is responsible for reduced pre- and postnatal growth rates and also for the developmental abnormalities in Roberts syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6517054" 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="#39" class="mim-tip-reference" title="Parry, D. M., Mulvihill, J. J., Tsai, S., Kaiser-Kupfer, M. I., Cowan, J. M. &lt;strong&gt;SC phocomelia syndrome, premature centromere separation and congenital cranial nerve paralysis in two sisters, one with malignant melanoma.&lt;/strong&gt; Am. J. Med. Genet. 24: 653-672, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3740099/&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;3740099&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320240410&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="3740099">Parry et al. (1986)</a> reported the cases of 2 middle-aged sisters with most of the manifestations of the SC phocomelia syndrome including postnatal growth retardation, symmetric limb deficiencies with radial aplasia and absent thumbs, facial anomalies with microcephaly, microphthalmia, hypoplastic nasal alae, and borderline to mild mental retardation. Unusual findings included congenital paralysis of some cranial nerves in both and malignant melanoma in 1. Tumor cells and cultured lymphocytes and fibroblasts of both patients showed premature separation of centromeric heterochromatin (PCS). PCS has been reported in lymphocytes and/or fibroblasts from at least 17 patients whose clinical phenotypes cover the range of the Roberts syndrome at the severe end and the SC phocomelia syndrome at the milder end (<a href="#39" class="mim-tip-reference" title="Parry, D. M., Mulvihill, J. J., Tsai, S., Kaiser-Kupfer, M. I., Cowan, J. M. &lt;strong&gt;SC phocomelia syndrome, premature centromere separation and congenital cranial nerve paralysis in two sisters, one with malignant melanoma.&lt;/strong&gt; Am. J. Med. Genet. 24: 653-672, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3740099/&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;3740099&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320240410&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="3740099">Parry et al., 1986</a>). This argues that the 2 syndromes represent the same clinical entity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3740099" 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="#29" class="mim-tip-reference" title="Krassikoff, N. E., Cowan, J. M., Parry, D. M., Francke, U. &lt;strong&gt;Chromatid repulsion associated with Roberts/SC phocomelia syndrome is reduced in malignant cells and not expressed in interspecies somatic-cell hybrids.&lt;/strong&gt; Am. J. Hum. Genet. 39: 618-630, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3788975/&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;3788975&lt;/a&gt;]" pmid="3788975">Krassikoff et al. (1986)</a> found that aneuploid cells from a metastatic melanoma in a patient with the Roberts/SC phocomelia syndrome, aged 32 years, showed a reduced frequency of PCS. Furthermore, when the patient's fibroblasts, which showed a high frequency of PCS, were cocultivated with either an immortal hamster cell line or with a human male fibroblast strain carrying a t(4;6) translocation, the phenomenon was neither corrected in the patient's cells nor induced in the other cells. In each experiment, only the patient's metaphase spreads showed PCS. In fusion hybrids between the patient's fibroblasts and an established Chinese cell line, however, the human chromosomes behaved normally. No chromatid repulsion (PCS) was observed, suggesting that the missing or mutant gene product in Roberts/SC phocomelia syndrome is supplied by the Chinese hamster genome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3788975" 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="#44" class="mim-tip-reference" title="Romke, C., Froster-Iskenius, U., Heyne, K., Hohn, W., Hof, M., Grzejszczyk, G., Rauskolb, R., Rehder, H., Schwinger, E. &lt;strong&gt;Roberts syndrome and SC phocomelia: a single genetic entity.&lt;/strong&gt; Clin. Genet. 31: 170-177, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3568444/&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;3568444&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1987.tb02790.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="3568444">Romke et al. (1987)</a> reported a family in which 3 sibs had various manifestations of Roberts syndrome or SC phocomelia, leading them to conclude that the 2 syndromes are the same genetic entity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3568444" 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="#38" class="mim-tip-reference" title="Opitz, J. M., Lowry, R. B. &lt;strong&gt;Lincoln vs. Douglas again; comments on the papers by Curry et al, Greenberg et al, and Belmont et al. (Editorial)&lt;/strong&gt; Am. J. Med. Genet. 26: 69-71, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3812580/&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;3812580&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320260113&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="3812580">Opitz and Lowry (1987)</a> stated that early on they had the impression that the Roberts syndrome and the SC pseudothalidomide syndrome may occur in different members of the same sibship and that the identification of identical cytological markers complements the conclusion of nosologic identity (as well as effective prenatal diagnosis). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3812580" 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="Fryns, J. P., Kleczkowska, A., Moerman, P., Van Den Berghe, K., Van Den Berghe, H. &lt;strong&gt;The Roberts tetraphocomelia syndrome: identical limb defects in two siblings.&lt;/strong&gt; Ann. Genet. 30: 243-245, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3501269/&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;3501269&lt;/a&gt;]" pmid="3501269">Fryns et al. (1987)</a> described 2 sibs with tetraphocomelia typical of Roberts syndrome: there was almost complete reduction of the midparts of the upper and lower limbs, and characteristic oligodactyly with absent nails. Neither cleft lip/cleft palate nor eye anomalies were present. Furthermore, premature centromere separation was not observed. The facies was unusual, consisting of a beaked nose, short philtrum, and triangular mouth. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3501269" 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="Holmes-Siedle, M., Seres-Santamaria, A., Crocker, M., Hall, J. G., Crouchman, M. &lt;strong&gt;A sibship with Roberts/SC phocomelia syndrome.&lt;/strong&gt; Am. J. Med. Genet. 37: 18-22, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2240038/&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;2240038&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320370106&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="2240038">Holmes-Siedle et al. (1990)</a> described what they called the Roberts/SC phocomelia syndrome in 3 sibs of second-cousin parents. One child survived to age 9. A somewhat unusual feature was craniosynostosis; overlap with the Baller-Gerold syndrome (<a href="/entry/218600">218600</a>), which has craniosynostosis as a feature, was discussed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2240038" 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="#23" class="mim-tip-reference" title="Huson, S. M., Rodgers, C. S., Hall, C. M., Winter, R. M. &lt;strong&gt;The Baller-Gerold syndrome: phenotypic and cytogenetic overlap with Roberts syndrome.&lt;/strong&gt; J. Med. Genet. 27: 371-375, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2359099/&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;2359099&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.27.6.371&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="2359099">Huson et al. (1990)</a> described a patient with craniostenosis and radial aplasia, which led to an initial diagnosis of Baller-Gerold syndrome. Mild fibular hypoplasia on skeletal survey led to review of the diagnosis, and similarity of the facial phenotype to that of Roberts syndrome was noted. Chromosome analysis showed the premature centromere separation characteristic of that condition. <a href="#23" class="mim-tip-reference" title="Huson, S. M., Rodgers, C. S., Hall, C. M., Winter, R. M. &lt;strong&gt;The Baller-Gerold syndrome: phenotypic and cytogenetic overlap with Roberts syndrome.&lt;/strong&gt; J. Med. Genet. 27: 371-375, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2359099/&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;2359099&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.27.6.371&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="2359099">Huson et al. (1990)</a> suggested that cases diagnosed as having Baller-Gerold syndrome should have cytogenetic analysis and, conversely, that known Roberts syndrome survivors should be reviewed for signs of craniostenosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2359099" 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="#26" class="mim-tip-reference" title="Keppen, L. D., Gollin, S. M., Seibert, J. J., Sisken, J. E. &lt;strong&gt;Roberts syndrome with normal cell division.&lt;/strong&gt; Am. J. Med. Genet. 38: 21-24, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2012128/&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;2012128&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320380106&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="2012128">Keppen et al. (1991)</a> described an infant with the clinical diagnosis of Roberts syndrome, but without the premature separation of centromeric heterochromatin and typical abnormalities of the cell division cycle reported in this condition. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2012128" 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="#34" class="mim-tip-reference" title="Maserati, E., Pasquali, F., Zuffardi, O., Buttitta, P., Cuoco, C., Defant, G., Gimelli, G., Fraccaro, M. &lt;strong&gt;Roberts syndrome: phenotypic variation, cytogenetic definition and heterozygotic detection.&lt;/strong&gt; Ann. Genet. 34: 239-246, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1809233/&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;1809233&lt;/a&gt;]" pmid="1809233">Maserati et al. (1991)</a> described 5 cases of Roberts syndrome in 4 nuclear families; in 3 of the families, the parents were consanguineous. They pictured affected sisters at ages 23 and 15 and emphasized the wide range of variability in the phenotype. The affected sisters had bilateral radial aplasia, hypoplastic ulnas and malformed hands; in the lower limbs, they had aplasia of the fibula with a bent tibia and bilateral clubfoot. At the other extreme was severe tetraphocomelia with death at or soon after birth. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1809233" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Feingold, M. &lt;strong&gt;History of C-patient with SC-Roberts/pseudothalidamide (sic) syndrome. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 43: 898-899, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1642282/&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;1642282&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320430532&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="1642282">Feingold (1992)</a> provided follow-up on the 'C-patient' originally reported by <a href="#19" class="mim-tip-reference" title="Herrmann, J., Feingold, M., Tuffli, G. A., Opitz, J. M. &lt;strong&gt;A familial dysmorphogenetic syndrome of limb deformities, characteristic facial appearance and associated anomalies: the &#x27;pseudothalidomide&#x27; or &#x27;SC-syndrome&#x27;.&lt;/strong&gt; Birth Defects Orig. Art. Ser. V(3): 81-89, 1969."None>Herrmann et al. (1969)</a>. At age 14 the patient developed moyamoya disease (<a href="/entry/252350">252350</a>) causing left hemiparesis. Chromosome studies showed premature centromere separation characteristic of this syndrome, i.e., splaying of the heterochromatin, repulsion of the short arms of the acrocentric chromosomes, and splaying of Y chromosome heterochromatin. At the age of 23 the patient developed chest pain and electrocardiographic changes indicative of anterior myocardial infarction. Subsequently he was found to have an apical aneurysm of the left ventricle with apical thrombosis and died of congestive heart failure. He remained short throughout his life; his final height was 139 cm. Although his facial characteristics remained constant, his scanty silvery blond hair became brown and less sparse. Mild valvular aortic stenosis was diagnosed at one time. The same syndrome was probably described by <a href="#37" class="mim-tip-reference" title="O&#x27;Brien, H. R., Mustard, H. S. &lt;strong&gt;An adult living case of total phocomelia.&lt;/strong&gt; JAMA 77: 1964-1967, 1921."None>O'Brien and Mustard (1921)</a> in 3 of 8 children of normal parents who were related as double first cousins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1642282" 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="#57" class="mim-tip-reference" title="Van Den Berg, D. J., Francke, U. &lt;strong&gt;Roberts syndrome: a review of 100 cases and a new rating system for severity.&lt;/strong&gt; Am. J. Med. Genet. 47: 1104-1123, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8291532/&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;8291532&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320470735&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="8291532">Van Den Berg and Francke (1993)</a> provided a review of 100 cases of Roberts syndrome and defined a new rating system for quantitating severity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8291532" 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="#46" class="mim-tip-reference" title="Satar, M., Atici, A., Bisak, U., Tunali, N. &lt;strong&gt;Roberts-SC phocomelia syndrome: a case with additional anomalies.&lt;/strong&gt; Clin. Genet. 45: 107-108, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8004795/&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;8004795&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1994.tb04004.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="8004795">Satar et al. (1994)</a> described a male infant who, in addition to typical manifestations of Roberts syndrome, had atrial septal defect, rudimentary gallbladder, and accessory spleen. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8004795" 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="#49" class="mim-tip-reference" title="Sinha, A. K., Verma, R. S., Mani, V. J. &lt;strong&gt;Clinical heterogeneity of skeletal dysplasia in Roberts syndrome: a review.&lt;/strong&gt; Hum. Hered. 44: 121-126, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8039795/&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;8039795&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1159/000154204&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="8039795">Sinha et al. (1994)</a> reviewed clinical heterogeneity of the skeletal dysplasia in Roberts syndrome. <a href="#45" class="mim-tip-reference" title="Sabry, M. A. &lt;strong&gt;Possible genetic heterogeneity in the Roberts-SC phocomelia syndrome. (Letter)&lt;/strong&gt; Hum. Hered. 45: 241-242, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7558058/&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;7558058&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1159/000154296&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="7558058">Sabry (1995)</a> suggested that, in the light of contemporary molecular and developmental genetics, such heterogeneity would not be surprising with different mutations in the same gene or with mutations in closely related genes of the same family. <a href="#45" class="mim-tip-reference" title="Sabry, M. A. &lt;strong&gt;Possible genetic heterogeneity in the Roberts-SC phocomelia syndrome. (Letter)&lt;/strong&gt; Hum. Hered. 45: 241-242, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7558058/&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;7558058&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1159/000154296&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="7558058">Sabry (1995)</a> raised the possibility that the mutations may lie in centromere-related proteins, which may also have a role in body patterning. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7558058+8039795" 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="#55" class="mim-tip-reference" title="Urban, M., Opitz, C., Bommer, C., Enders, H., Tinschert, S., Witkowski, R. &lt;strong&gt;Bilaterally cleft lip, limb defects, and haematological manifestations: Roberts syndrome versus TAR syndrome.&lt;/strong&gt; Am. J. Med. Genet. 79: 155-160, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9788553/&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;9788553&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1096-8628(19980923)79:3&lt;155::aid-ajmg1&gt;3.0.co;2-m&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="9788553">Urban et al. (1998)</a> described a 13-year-old boy who illustrated the phenotypic overlap between Roberts syndrome and TAR syndrome. The mother had an isolated left cleft of the lip and a cleft palate. The boy presented at birth with bilateral cleft lip/cleft palate, phocomelia of upper limbs with normal hands, and mild symmetric deficiencies of the long bones of the lower limbs. A leukemoid reaction occurred during a urinary tract infection as well as intermittent thrombocytopenia and episodes of marked eosinophilia during the first 2 years of life. Intellectual development was normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9788553" 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="Goh, E. S-Y., Li, C., Horsburgh, S., Kasai, Y., Kolomietz, E., Morel, C. F. &lt;strong&gt;The Roberts syndrome/SC phocomelia spectrum--a case report of an adult with review of the literature.&lt;/strong&gt; Am. J. Med. Genet. 152A: 472-478, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20101700/&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;20101700&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.33261&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="20101700">Goh et al. (2010)</a> studied a 31-year-old man who was referred for short stature and subaortic stenosis; the latter had been repaired at 8 years of age but recurred in adulthood, requiring reoperation. Upon examination he had short stature and dysmorphic features, including hypertelorism, downslanting palpebral fissures, prominent nasal bridge, and hypoplastic alae nasi with prominent columella. His ears were simple and slightly posteriorly angulated; he had a high palate and mild retrognathia. His extremities displayed no obvious defects, but careful measurement showed limb lengths ranging from less than the 50th centile to less than the 5th centile for adult males. Karyotype showed premature centromere separation in all metaphases. Skeletal survey showed no limb reduction defects, but there was evidence of hypertelorism, mild brachymetacarpalia, brachyphalangy, and short femoral necks. Analysis of the ESCO2 gene revealed homozygosity for a truncating mutation. <a href="#14" class="mim-tip-reference" title="Goh, E. S-Y., Li, C., Horsburgh, S., Kasai, Y., Kolomietz, E., Morel, C. F. &lt;strong&gt;The Roberts syndrome/SC phocomelia spectrum--a case report of an adult with review of the literature.&lt;/strong&gt; Am. J. Med. Genet. 152A: 472-478, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/20101700/&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;20101700&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.33261&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="20101700">Goh et al. (2010)</a> reviewed previously reported adult cases of Roberts syndrome/SC phocomelia, and noted that this case highlighted the variability in the RBS/SC phocomelia spectrum and demonstrated that clinically apparent limb anomaly might not be an obligate feature for diagnosis of the condition. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20101700" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="inheritance" class="mim-anchor"></a>
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<p>Consanguinity in the family with RBS reported by <a href="#43" class="mim-tip-reference" title="Roberts, J. B. &lt;strong&gt;A child with double cleft of lip and palate, protrusion of the intermaxillary portion of the upper jaw and imperfect development of the bones of the four extremities.&lt;/strong&gt; Ann. Surg. 70: 252-254, 1919."None>Roberts (1919)</a> suggested autosomal recessive inheritance. The transmission pattern of RBS in the families reported by <a href="#19" class="mim-tip-reference" title="Herrmann, J., Feingold, M., Tuffli, G. A., Opitz, J. M. &lt;strong&gt;A familial dysmorphogenetic syndrome of limb deformities, characteristic facial appearance and associated anomalies: the &#x27;pseudothalidomide&#x27; or &#x27;SC-syndrome&#x27;.&lt;/strong&gt; Birth Defects Orig. Art. Ser. V(3): 81-89, 1969."None>Herrmann et al. (1969)</a> was consistent with autosomal recessive inheritance.</p>
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<p><a href="#58" class="mim-tip-reference" title="Vega, H., Trainer, A. H., Gordillo, M., Crosier, M., Kayserili, H., Skovby, F., Uzielli, M. L. G., Schnur, R. E., Manouvrier, S., Blair, E., Hurst, J. A., Forzano, F., Meins, M., Simola, K. O. J., Raas-Rothschild, A., Hennekam, R. C. M., Jabs, E. W. &lt;strong&gt;Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome.&lt;/strong&gt; J. Med. Genet. 47: 30-37, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19574259/&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;19574259&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.2009.068395&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="19574259">Vega et al. (2010)</a> established clinical criteria for a diagnosis of Roberts syndrome based on a cohort of 49 patients, including 18 reported previously, with the disorder confirmed by genetic analysis. The clinical criteria were delineated to include growth retardation, symmetric mesomelic shortening of the limbs in which the upper limbs were more commonly and severely affected than the lower limbs, and characteristic facies with microcephaly. The severity of malformations of the facies correlated with the severity of limb reduction. There were some significant associations: patients without corneal opacities were less likely to present with cardiac anomalies (p = 0.0022) and those with corneal opacities were more likely to present with mental retardation (p = 0.0006) <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19574259" 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>Prenatal Diagnosis</em></strong></p><p>
<a href="#21" class="mim-tip-reference" title="Hirschhorn, K., Kaffe, S. &lt;strong&gt;Prenatal diagnosis of Roberts syndrome. (Letter)&lt;/strong&gt; Prenatal Diag. 12: 976 only, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1494554/&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;1494554&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/pd.1970121123&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="1494554">Hirschhorn and Kaffe (1992)</a> pointed out that they had made a prenatal diagnosis of Roberts syndrome in a family at risk by detection of skeletal and renal abnormalities (<a href="#25" class="mim-tip-reference" title="Kaffe, S., Rose, J. S., Godmilow, L., Walker, B. A., Kerenyi, T., Beratis, N., Reyes, P., Hirschhorn, K. &lt;strong&gt;Prenatal diagnosis of renal anomalies.&lt;/strong&gt; Am. J. Med. Genet. 1: 241-251, 1977.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/610432/&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;610432&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320010210&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="610432">Kaffe et al., 1977</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=610432+1494554" 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="#63" class="mim-tip-reference" title="Zergollern, L., Hitrec, V. &lt;strong&gt;Four siblings with Robert&#x27;s syndrome.&lt;/strong&gt; Clin. Genet. 21: 1-6, 1982.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7067161/&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;7067161&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1982.tb02071.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="7067161">Zergollern and Hitrec (1982)</a> concluded that the Roberts and SC phocomelia syndromes are one entity. In a sibship with 4 affected, they found silver-blond hair, typical of SC, in 1; 2 had cloudy corneas typical of SC. They described chromosomal changes similar to those described by others and proposed their use in prenatal diagnosis. The chromosomal abnormality involves the heterochromatic, C-banding regions of most chromosomes. In addition to the above noted puffing of heterochromatic regions around the centromeres and nucleolar organizers, the heterochromatin of the long arms of the Y chromosome is often widely separated in metaphase spreads. <a href="#13" class="mim-tip-reference" title="German, J. &lt;strong&gt;Robert&#x27;s syndrome. I. Cytological evidence for a disturbance in chromatid pairing.&lt;/strong&gt; Clin. Genet. 16: 441-447, 1979.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/527250/&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;527250&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1979.tb01354.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="527250">German (1979)</a> suggested that these configurations result from a repulsion or lack of attraction between the chromatids in these regions leading to premature separation during prophase and metaphase. <a href="#34" class="mim-tip-reference" title="Maserati, E., Pasquali, F., Zuffardi, O., Buttitta, P., Cuoco, C., Defant, G., Gimelli, G., Fraccaro, M. &lt;strong&gt;Roberts syndrome: phenotypic variation, cytogenetic definition and heterozygotic detection.&lt;/strong&gt; Ann. Genet. 34: 239-246, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1809233/&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;1809233&lt;/a&gt;]" pmid="1809233">Maserati et al. (1991)</a> used indirect immunofluorescence with serum antibodies from patients with CREST (<a href="/entry/181750">181750</a>) to demonstrate that the centromeric structures are normal in Roberts syndrome, thus confirming the assumption of <a href="#13" class="mim-tip-reference" title="German, J. &lt;strong&gt;Robert&#x27;s syndrome. I. Cytological evidence for a disturbance in chromatid pairing.&lt;/strong&gt; Clin. Genet. 16: 441-447, 1979.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/527250/&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;527250&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1979.tb01354.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="527250">German (1979)</a> that chromatid repulsion is confined to the heterochromatin. Studies suggested that heterozygotes can be screened by the phenomenon of centromeric heterochromatin separation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=527250+1809233+7067161" 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="#24" class="mim-tip-reference" title="Jabs, E. W., Tuck-Muller, C. M., Cusano, R., Rattner, J. B. &lt;strong&gt;Studies of mitotic and centromeric abnormalities in Roberts syndrome: implications for a defect in the mitotic mechanism.&lt;/strong&gt; Chromosoma 100: 251-261, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2055135/&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;2055135&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00344159&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="2055135">Jabs et al. (1991)</a> presented evidence that Roberts syndrome is a 'mitotic mutant.' They emphasized that, in addition to previously described changes, aneuploidy with random chromosome loss and micronuclei and/or nuclear lobulation in the interphase cells are characteristic. They considered it unlikely that the defect in this disorder is in one of the structural proteins of the kinetochore. They suggested, however, that the defect might lie in one of the proteins transiently associated with the kinetochore and involved in its function. <a href="#50" class="mim-tip-reference" title="Stioui, S., Privitera, O., Brambati, B., Zuliani, G., Lalatta, F., Simoni, G. &lt;strong&gt;First-trimester prenatal diagnosis of Roberts syndrome.&lt;/strong&gt; Prenatal Diag. 12: 145-149, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1553361/&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;1553361&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/pd.1970120211&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="1553361">Stioui et al. (1992)</a> detected premature centromere separation on chorionic villus sampling at 8 weeks' gestation in a woman at risk of recurrence of Roberts syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1553361+2055135" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#32" class="mim-tip-reference" title="Lopez-Allen, G., Hutcheon, R. G., Shaham, M., Tunnessen, W. W., Jr. &lt;strong&gt;Picture of the month.&lt;/strong&gt; Arch. Pediat. Adolesc. Med. 150: 645-646, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8646318/&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;8646318&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archpedi.1996.02170310079015&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="8646318">Lopez-Allen et al. (1996)</a> pictured an afflicted newborn infant and the chromosome changes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8646318" 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="Allingham-Hawkins, D. J., Tomkins, D. J. &lt;strong&gt;Heterogeneity in Roberts syndrome.&lt;/strong&gt; Am. J. Med. Genet. 55: 188-194, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7536395/&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;7536395&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320550208&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="7536395">Allingham-Hawkins and Tomkins (1995)</a> pointed out that some Roberts syndrome patients (referred to as RS+), but not others (RS-), have an abnormality of their constitutive heterochromatin and show cellular hypersensitivity to DNA damaging agents such as mitomycin C. Lymphoblastoid cell lines from 2 unrelated RS+ patients were fused and hybrid cells examined for correction of these 2 defects. Neither cellular defect was corrected in the 2 hybrid cell lines, suggesting that the patients represent a single complementation group. On the other hand, fusions between 1 RS+ cell line and 2 different RS- cell lines produced in each case hybrids demonstrating correction of both defects. This suggested that RS+ and RS- patients belong to different complementation groups and do not arise from the same single gene mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7536395" 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="#35" class="mim-tip-reference" title="McDaniel, L. D., Prueitt, R., Probst, L. C., Wilson, K. S., Tomkins, D., Wilson, G. N., Schultz, R. A. &lt;strong&gt;Novel assay for Roberts syndrome assigns variable phenotypes to one complementation group.&lt;/strong&gt; Am. J. Med. Genet. 93: 223-229, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10925387/&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;10925387&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/1096-8628(20000731)93:3&lt;223::aid-ajmg13&gt;3.0.co;2-j&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="10925387">McDaniel et al. (2000)</a> described a new assay for in vitro complementation and assigned a severely affected patient to the same complementation group defined by other, less severely affected patients. They suggested that a single complementation group defines RBS patients with heterochromatic splaying regardless of clinical severity. <a href="#36" class="mim-tip-reference" title="McDaniel, L. D., Tomkins, D. J., Stanbridge, E. J., Somerville, M. J., Friedberg, E. C., Schultz, R. A. &lt;strong&gt;Mapping of a single locus capable of complementing the defective heterochromatin phenotype of Roberts syndrome cells.&lt;/strong&gt; Am. J. Hum. Genet. 77: 132-139, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15887093/&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;15887093&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=15887093[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/431328&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="15887093">McDaniel et al. (2005)</a> used complementation of the abnormal cytogenetic phenotype of Roberts syndrome, referred to as 'heterochromatic repulsion,' to identify a specific region of the normal human genome capable of rendering phenotypic correction. Using a transient chromosome-transfer assay, they screened the entire human genome and demonstrated complementation exclusively after the transfer of proximal chromosome 8p, a result subsequently confirmed by stable microcell-mediated chromosome transfer. Additionally, homozygosity mapping was used to refine the interval of this complementing locus to 8p21. These findings were all consistent with those of <a href="#59" class="mim-tip-reference" title="Vega, H., Waisfisz, Q., Gordillo, M., Sakai, N., Yanagihara, I., Yamada, M., van Gosliga, D., Kayserili, H., Xu, C., Ozono, K., Jabs, E. W., Inui, K., Joenje, H. &lt;strong&gt;Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion.&lt;/strong&gt; Nature Genet. 37: 468-470, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15821733/&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;15821733&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1548&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="15821733">Vega et al. (2005)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15821733+10925387+15887093" 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="#5" class="mim-tip-reference" title="Bermejo-Sanchez, E., Cuevas, L., Amar, E., Bianca, S., Bianchi, F., Botto, L. D., Canfield, M. A., Castilla, E. E., Clementi, M., Cocchi, G., Landau, D., Leoncini, E., and 10 others. &lt;strong&gt;Phocomelia: a worldwide descriptive epidemiologic study in a large series of cases from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature.&lt;/strong&gt; Am. J. Med. Genet. C Semin. Med. Genet. 157C: 305-320, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22002800/&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;22002800&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=22002800[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.c.30320&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="22002800">Bermejo-Sanchez et al. (2011)</a> reported epidemiologic data on phocomelia from 19 birth defect surveillance programs, all members of the International Clearinghouse for Birth Defects Surveillance and Research. Depending on the program, data corresponded to a period from 1968 through 2006. A total of 22,740,933 live births, stillbirths, and, for some programs, elective terminations of pregnancy for fetal anomaly were monitored. After a detailed review of clinical data, only true phocomelia cases were included. Descriptive data were presented and additional analyses compared isolated cases with those with multiple congenital anomalies (MCA), excluding syndromes. <a href="#5" class="mim-tip-reference" title="Bermejo-Sanchez, E., Cuevas, L., Amar, E., Bianca, S., Bianchi, F., Botto, L. D., Canfield, M. A., Castilla, E. E., Clementi, M., Cocchi, G., Landau, D., Leoncini, E., and 10 others. &lt;strong&gt;Phocomelia: a worldwide descriptive epidemiologic study in a large series of cases from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature.&lt;/strong&gt; Am. J. Med. Genet. C Semin. Med. Genet. 157C: 305-320, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/22002800/&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;22002800&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=22002800[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.c.30320&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="22002800">Bermejo-Sanchez et al. (2011)</a> also briefly compared congenital anomalies associated with nonsyndromic phocomelia with those presented with amelia (see <a href="/entry/601360">601360</a>), another rare severe congenital limb defect. A total of 141 phocomelia cases registered gave an overall total prevalence of 0.62 per 100,000 births (95% confidence interval 0.52-0.73). Three programs, Australia Victoria, South America ECLAMC, and Italy North East, had significantly different prevalence estimates. Most cases (53.2%) had isolated phocomelia, while 9.9% had syndromes. Most nonsyndromic cases were monomelic (55.9%), with an excess of left (64.9%) and upper limb (64.9%) involvement. Most nonsyndromic cases (66.9%) were live births; most isolated cases (57.9%) weighed more than 2,499 grams; most MCA (60.7%) weighed less than 2,500 grams and were more likely stillbirths (30.8%) or terminations (15.4%) than isolated cases. The most common associated defects were musculoskeletal, cardiac, and intestinal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22002800" 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="#59" class="mim-tip-reference" title="Vega, H., Waisfisz, Q., Gordillo, M., Sakai, N., Yanagihara, I., Yamada, M., van Gosliga, D., Kayserili, H., Xu, C., Ozono, K., Jabs, E. W., Inui, K., Joenje, H. &lt;strong&gt;Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion.&lt;/strong&gt; Nature Genet. 37: 468-470, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15821733/&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;15821733&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1548&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="15821733">Vega et al. (2005)</a> identified 7 families affected with Roberts syndrome in 2 isolated villages near Bogota, Colombia. After discovering a common ancestor in the 18th century by genealogic studies of 4 families, they began a genomewide search for the disease-associated locus by homozygosity mapping. The final analysis reported linkage for 8p21.2-p12 between markers D8S258 and D8S505. With additional families and fine mapping, they confirmed a region of homozygosity in all 11 affected individuals studied. Multipoint analysis gave a maximum lod score of 13.4 at D8S1839. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15821733" 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>Using a candidate gene approach, <a href="#59" class="mim-tip-reference" title="Vega, H., Waisfisz, Q., Gordillo, M., Sakai, N., Yanagihara, I., Yamada, M., van Gosliga, D., Kayserili, H., Xu, C., Ozono, K., Jabs, E. W., Inui, K., Joenje, H. &lt;strong&gt;Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion.&lt;/strong&gt; Nature Genet. 37: 468-470, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15821733/&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;15821733&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/ng1548&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="15821733">Vega et al. (2005)</a> identified the ESCO2 gene within the Roberts syndrome critical region on chromosome 8 and found 8 different mutations in this gene in 18 affected individuals from 15 affected families of different ethnic backgrounds. They identified 1 missense mutation, 1 nonsense mutation, and 6 frameshift mutations (see, e.g., <a href="/entry/609353#0001">609353.0001</a>-<a href="/entry/609353#0003">609353.0003</a>). The ESCO2 protein product is a member of a conserved protein family that is required for the establishment of sister chromatid cohesion during S phase and has putative acetyltransferase activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15821733" 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 one of the original families described by <a href="#19" class="mim-tip-reference" title="Herrmann, J., Feingold, M., Tuffli, G. A., Opitz, J. M. &lt;strong&gt;A familial dysmorphogenetic syndrome of limb deformities, characteristic facial appearance and associated anomalies: the &#x27;pseudothalidomide&#x27; or &#x27;SC-syndrome&#x27;.&lt;/strong&gt; Birth Defects Orig. Art. Ser. V(3): 81-89, 1969."None>Herrmann et al. (1969)</a> and in the sisters described by <a href="#39" class="mim-tip-reference" title="Parry, D. M., Mulvihill, J. J., Tsai, S., Kaiser-Kupfer, M. I., Cowan, J. M. &lt;strong&gt;SC phocomelia syndrome, premature centromere separation and congenital cranial nerve paralysis in two sisters, one with malignant melanoma.&lt;/strong&gt; Am. J. Med. Genet. 24: 653-672, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3740099/&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;3740099&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320240410&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="3740099">Parry et al. (1986)</a> with SC phocomelia, <a href="#47" class="mim-tip-reference" title="Schule, B., Oviedo, A., Johnston, K., Pai, S., Francke, U. &lt;strong&gt;Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation.&lt;/strong&gt; Am. J. Hum. Genet. 77: 1117-1128, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16380922/&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;16380922&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=16380922[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/498695&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="16380922">Schule et al. (2005)</a> found compound heterozygosity for mutations in the ESCO2 gene (see <a href="/entry/609353#0004">609353.0004</a> and <a href="/entry/609353#0006">609353.0006</a>). Altogether <a href="#47" class="mim-tip-reference" title="Schule, B., Oviedo, A., Johnston, K., Pai, S., Francke, U. &lt;strong&gt;Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation.&lt;/strong&gt; Am. J. Hum. Genet. 77: 1117-1128, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16380922/&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;16380922&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=16380922[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/498695&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="16380922">Schule et al. (2005)</a> found 7 novel mutations in exons 3 through 8 of the ESCO2 gene in 6 individuals with SC phocomelia from 5 families. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16380922+3740099" 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="Gordillo, M., Vega, H., Trainer, A. H., Hou, F., Sakai, N., Luque, R., Kayserili, H., Basaran, S., Skovby, F., Hennekam, R. C. M., Giovannucci Uzielli, M. L., Schnur, R. E., and 14 others. &lt;strong&gt;The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase.&lt;/strong&gt; Hum. Molec. Genet. 17: 2172-2180, 2008.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/18411254/&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;18411254&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/ddn116&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="18411254">Gordillo et al. (2008)</a> concluded that Roberts syndrome and SC phocomelia are the same syndrome with varying phenotypic expression. They analyzed the ESCO2 gene in 16 Roberts syndrome/SC phocomelia pedigrees with 17 affected individuals and identified 15 different mutations; 13 individuals were homozygous, and 4 were compound heterozygous for the mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18411254" 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>In an analysis of 49 patients with ESCO2 mutations, including 18 previously reported cases, <a href="#58" class="mim-tip-reference" title="Vega, H., Trainer, A. H., Gordillo, M., Crosier, M., Kayserili, H., Skovby, F., Uzielli, M. L. G., Schnur, R. E., Manouvrier, S., Blair, E., Hurst, J. A., Forzano, F., Meins, M., Simola, K. O. J., Raas-Rothschild, A., Hennekam, R. C. M., Jabs, E. W. &lt;strong&gt;Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome.&lt;/strong&gt; J. Med. Genet. 47: 30-37, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19574259/&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;19574259&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.2009.068395&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="19574259">Vega et al. (2010)</a> found no clear genotype/phenotype correlation. However, the presence or absence of corneal opacities segregated with specific mutations in some cases. All 7 individuals from 4 families with the 750insG mutation (<a href="/entry/609353#0003">609353.0003</a>) lacked corneal opacities, whereas all 5 patients with the R169X mutation (<a href="/entry/609353#0002">609353.0002</a>) had corneal opacities. In addition, patients without corneal opacities were less likely to present with cardiac abnormalities, and patients with corneal opacities were more likely to present with mental retardation. Skeletal defects were more common in patients with cleft lip/palate. <a href="#58" class="mim-tip-reference" title="Vega, H., Trainer, A. H., Gordillo, M., Crosier, M., Kayserili, H., Skovby, F., Uzielli, M. L. G., Schnur, R. E., Manouvrier, S., Blair, E., Hurst, J. A., Forzano, F., Meins, M., Simola, K. O. J., Raas-Rothschild, A., Hennekam, R. C. M., Jabs, E. W. &lt;strong&gt;Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome.&lt;/strong&gt; J. Med. Genet. 47: 30-37, 2010.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19574259/&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;19574259&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.2009.068395&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="19574259">Vega et al. (2010)</a> found that both Roberts syndrome and SC phocomelia could be caused by the same mutation in different members of the same family, indicating that the 2 disorders represent a phenotypic spectrum. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19574259" 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>History</strong>
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<p><a href="#56" class="mim-tip-reference" title="Urban, M., Rogalla, P., Tinschert, S., Krietsch, P. &lt;strong&gt;Tetraphocomelia and bilateral cleft lip in a historical case of Roberts syndrome (Virchow, 1988).&lt;/strong&gt; Am. J. Med. Genet. 72: 307-314, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9332660/&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;9332660&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1096-8628(19971031)72:3&lt;307::aid-ajmg11&gt;3.0.co;2-x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9332660">Urban et al. (1997)</a> described a specimen of tetraphocomelia and bilaterally cleft lip recovered from what had been the Virchow Museum of Humboldt University in Berlin and showed convincingly that this was the specimen reported by <a href="#60" class="mim-tip-reference" title="Virchow, R. &lt;strong&gt;Die Phokomelen und das Barenweib.&lt;/strong&gt; Verh. Berl. Gesell. Anthrop. 30: 55-61, 1898."None>Virchow (1898)</a>. This was clearly an instance of Roberts syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9332660" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Bates, A. W. &lt;strong&gt;Autopsy on a case of Roberts syndrome reported in 1672: the earliest description?&lt;/strong&gt; Am. J. Med. Genet. 117A: 92-96, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12548750/&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;12548750&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.10864&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="12548750">Bates (2003)</a> reproduced the report of a case of Roberts syndrome by Francois Bouchard in 1672. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12548750" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#28" class="mim-tip-reference" title="Kompanje, E. J. O. &lt;strong&gt;The earliest description of an autopsy on a case of Roberts syndrome reported in 1672: some additions. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 149A: 1610-1611, 2009.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/19533786/&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;19533786&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.32921&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="19533786">Kompanje (2009)</a> commented on the report of <a href="#3" class="mim-tip-reference" title="Bates, A. W. &lt;strong&gt;Autopsy on a case of Roberts syndrome reported in 1672: the earliest description?&lt;/strong&gt; Am. J. Med. Genet. 117A: 92-96, 2003.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/12548750/&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;12548750&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.a.10864&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="12548750">Bates (2003)</a>, noting that Francois Bouchard had actually translated the original report that was written by the French surgeon Francois Deboze from Lyon. Other historical details were clarified. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=19533786+12548750" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Bokesoy1982" class="mim-tip-reference" title="Bokesoy, I., Balci, S., Bilgic, S. &lt;strong&gt;A case of SC-phocomelia syndrome with nonrandom centromere separation. In: Papadatos, C. J.; Bartsocas, C. S. (eds.): Skeletal Dysplasias.&lt;/strong&gt; New York: Alan R. Liss (pub.) 1982. Pp. 351-356.">Bokesoy et al. (1982)</a>; <a href="#Ekong1978" class="mim-tip-reference" title="Ekong, C. E. U., Rozidlsky, B. &lt;strong&gt;Hydranencephaly in association with Roberts syndrome.&lt;/strong&gt; J. Canad. Sci. Neurol. 5: 253-255, 1978.">Ekong and Rozidlsky (1978)</a>; <a href="#Graham1983" class="mim-tip-reference" title="Graham, J. M., Jr., Stephens, T. D., Shepard, T. H. &lt;strong&gt;Nuchal cystic hygroma in a fetus with presumed Roberts syndrome. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 15: 163-167, 1983.">Graham et al.
(1983)</a>; <a href="#Klein1978" class="mim-tip-reference" title="Klein, D., Tobler, R., Konig, H. &lt;strong&gt;Hypomelia-hypotrichosis-facial-hemangioma syndrome associated with congenital glaucoma and other anomalies.&lt;/strong&gt; Doc. Ophthal. Proc. Ser. 17: 383-391, 1978.">Klein et al. (1978)</a>; <a href="#Leonard1982" class="mim-tip-reference" title="Leonard, P., Rendle-Short, J., Skardoon, L. &lt;strong&gt;Roberts&#x27;--SC phocomelia syndrome with cytogenetic findings.&lt;/strong&gt; Hum. Genet. 60: 379-380, 1982.">Leonard et al. (1982)</a>; <a href="#Louie1981" class="mim-tip-reference" title="Louie, E., German, J. &lt;strong&gt;Roberts&#x27;s syndrome. II. Aberrant Y-chromosome behavior.&lt;/strong&gt; Clin. Genet. 19: 71-74, 1981.">Louie and German
(1981)</a>; <a href="#Petrinelli1984" class="mim-tip-reference" title="Petrinelli, P., Antonelli, A., Marcucci, L., Dallapiccola, B. &lt;strong&gt;Premature centromere splitting in a presumptive mild form of Roberts syndrome.&lt;/strong&gt; Hum. Genet. 66: 96-99, 1984.">Petrinelli et al. (1984)</a>; <a href="#Pfeiffer1982" class="mim-tip-reference" title="Pfeiffer, R. A., Zwerner, H. &lt;strong&gt;The Roberts syndrome: report of a case without anomaly of the centromeric region.&lt;/strong&gt; Mschr. Kinderheilk. 130: 296-298, 1982.">Pfeiffer and Zwerner (1982)</a>; <a href="#Zergollern1976" class="mim-tip-reference" title="Zergollern, L., Hitrec, V. &lt;strong&gt;Three siblings with Robert&#x27;s syndrome.&lt;/strong&gt; Clin. Genet. 9: 433-436, 1976.">Zergollern and Hitrec (1976)</a>
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<a id="Allingham-Hawkins1995" class="mim-anchor"></a>
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Allingham-Hawkins, D. J., Tomkins, D. J.
<strong>Heterogeneity in Roberts syndrome.</strong>
Am. J. Med. Genet. 55: 188-194, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7536395/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7536395</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7536395" 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.1320550208" target="_blank">Full Text</a>]
</p>
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[<a href="https://doi.org/10.1002/ajmg.a.10864" target="_blank">Full Text</a>]
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<strong>Radial aplasia, chromosomal aberration, and anterior chamber cleavage manifestations in two siblings.</strong>
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Bermejo-Sanchez, E., Cuevas, L., Amar, E., Bianca, S., Bianchi, F., Botto, L. D., Canfield, M. A., Castilla, E. E., Clementi, M., Cocchi, G., Landau, D., Leoncini, E., and 10 others.
<strong>Phocomelia: a worldwide descriptive epidemiologic study in a large series of cases from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature.</strong>
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[<a href="https://doi.org/10.1002/ajmg.c.30320" target="_blank">Full Text</a>]
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<strong>A case of SC-phocomelia syndrome with nonrandom centromere separation. In: Papadatos, C. J.; Bartsocas, C. S. (eds.): Skeletal Dysplasias.</strong>
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<strong>The Roberts syndrome.</strong>
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[<a href="https://doi.org/10.1007/BF00276604" target="_blank">Full Text</a>]
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<a id="Ekong1978" class="mim-anchor"></a>
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Ekong, C. E. U., Rozidlsky, B.
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<strong>History of C-patient with SC-Roberts/pseudothalidamide (sic) syndrome. (Letter)</strong>
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[<a href="https://doi.org/10.1002/ajmg.1320430532" target="_blank">Full Text</a>]
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<a id="Freeman1974" class="mim-anchor"></a>
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Freeman, M. V. R., Williams, D. W., Schimke, R. N., Temtamy, S. A.
<strong>The Roberts syndrome.</strong>
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[<a href="https://doi.org/10.1111/j.1399-0004.1974.tb01652.x" target="_blank">Full Text</a>]
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<a id="Fryns1980" class="mim-anchor"></a>
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Fryns, J., Goddeeris, P., Moerman, F., Herman, F., van den Berghe, H.
<strong>The tetraphocomelia-cleft palate syndrome in identical twins.</strong>
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[<a href="https://doi.org/10.1007/BF00273512" target="_blank">Full Text</a>]
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<a id="Fryns1987" class="mim-anchor"></a>
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Fryns, J. P., Kleczkowska, A., Moerman, P., Van Den Berghe, K., Van Den Berghe, H.
<strong>The Roberts tetraphocomelia syndrome: identical limb defects in two siblings.</strong>
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<a id="German1979" class="mim-anchor"></a>
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German, J.
<strong>Robert's syndrome. I. Cytological evidence for a disturbance in chromatid pairing.</strong>
Clin. Genet. 16: 441-447, 1979.
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[<a href="https://doi.org/10.1111/j.1399-0004.1979.tb01354.x" target="_blank">Full Text</a>]
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<a id="Goh2010" class="mim-anchor"></a>
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Goh, E. S-Y., Li, C., Horsburgh, S., Kasai, Y., Kolomietz, E., Morel, C. F.
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[<a href="https://doi.org/10.1002/ajmg.a.33261" target="_blank">Full Text</a>]
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<a id="Gordillo2008" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Gordillo, M., Vega, H., Trainer, A. H., Hou, F., Sakai, N., Luque, R., Kayserili, H., Basaran, S., Skovby, F., Hennekam, R. C. M., Giovannucci Uzielli, M. L., Schnur, R. E., and 14 others.
<strong>The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase.</strong>
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[<a href="https://doi.org/10.1093/hmg/ddn116" target="_blank">Full Text</a>]
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<a id="Graham1983" class="mim-anchor"></a>
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Graham, J. M., Jr., Stephens, T. D., Shepard, T. H.
<strong>Nuchal cystic hygroma in a fetus with presumed Roberts syndrome. (Letter)</strong>
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[<a href="https://doi.org/10.1002/ajmg.1320150126" target="_blank">Full Text</a>]
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<a id="Grosse1975" class="mim-anchor"></a>
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<strong>The tetraphocomelia--cleft palate syndrome: description of a new case.</strong>
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[<a href="https://doi.org/10.1007/BF00284811" target="_blank">Full Text</a>]
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Hall, B. D., Greenberg, M. H.
<strong>Hypomelia-hypotrichosis-facial hemangioma syndrome (pseudothalidomide, SC syndrome, SC phocomelia syndrome).</strong>
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[<a href="https://doi.org/10.1001/archpedi.1972.02110120126020" target="_blank">Full Text</a>]
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<a id="Herrmann1969" class="mim-anchor"></a>
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Herrmann, J., Feingold, M., Tuffli, G. A., Opitz, J. M.
<strong>A familial dysmorphogenetic syndrome of limb deformities, characteristic facial appearance and associated anomalies: the 'pseudothalidomide' or 'SC-syndrome'.</strong>
Birth Defects Orig. Art. Ser. V(3): 81-89, 1969.
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<strong>The SC phocomelia and the Roberts syndrome: nosologic aspects.</strong>
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[<a href="https://doi.org/10.1007/BF00489985" target="_blank">Full Text</a>]
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<a id="Hirschhorn1992" class="mim-anchor"></a>
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<strong>Prenatal diagnosis of Roberts syndrome. (Letter)</strong>
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[<a href="https://doi.org/10.1002/pd.1970121123" target="_blank">Full Text</a>]
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<a id="Holmes-Siedle1990" class="mim-anchor"></a>
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Holmes-Siedle, M., Seres-Santamaria, A., Crocker, M., Hall, J. G., Crouchman, M.
<strong>A sibship with Roberts/SC phocomelia syndrome.</strong>
Am. J. Med. Genet. 37: 18-22, 1990.
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[<a href="https://doi.org/10.1002/ajmg.1320370106" target="_blank">Full Text</a>]
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<a id="Huson1990" class="mim-anchor"></a>
<div class="">
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Huson, S. M., Rodgers, C. S., Hall, C. M., Winter, R. M.
<strong>The Baller-Gerold syndrome: phenotypic and cytogenetic overlap with Roberts syndrome.</strong>
J. Med. Genet. 27: 371-375, 1990.
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[<a href="https://doi.org/10.1136/jmg.27.6.371" target="_blank">Full Text</a>]
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<a id="Jabs1991" class="mim-anchor"></a>
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<p class="mim-text-font">
Jabs, E. W., Tuck-Muller, C. M., Cusano, R., Rattner, J. B.
<strong>Studies of mitotic and centromeric abnormalities in Roberts syndrome: implications for a defect in the mitotic mechanism.</strong>
Chromosoma 100: 251-261, 1991.
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[<a href="https://doi.org/10.1007/BF00344159" target="_blank">Full Text</a>]
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<a id="25" class="mim-anchor"></a>
<a id="Kaffe1977" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Kaffe, S., Rose, J. S., Godmilow, L., Walker, B. A., Kerenyi, T., Beratis, N., Reyes, P., Hirschhorn, K.
<strong>Prenatal diagnosis of renal anomalies.</strong>
Am. J. Med. Genet. 1: 241-251, 1977.
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[<a href="https://doi.org/10.1002/ajmg.1320010210" target="_blank">Full Text</a>]
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<a id="Keppen1991" class="mim-anchor"></a>
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Keppen, L. D., Gollin, S. M., Seibert, J. J., Sisken, J. E.
<strong>Roberts syndrome with normal cell division.</strong>
Am. J. Med. Genet. 38: 21-24, 1991.
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[<a href="https://doi.org/10.1002/ajmg.1320380106" target="_blank">Full Text</a>]
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<a id="Klein1978" class="mim-anchor"></a>
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<strong>Hypomelia-hypotrichosis-facial-hemangioma syndrome associated with congenital glaucoma and other anomalies.</strong>
Doc. Ophthal. Proc. Ser. 17: 383-391, 1978.
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[<a href="https://doi.org/10.1002/ajmg.a.32921" target="_blank">Full Text</a>]
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<strong>Chromatid repulsion associated with Roberts/SC phocomelia syndrome is reduced in malignant cells and not expressed in interspecies somatic-cell hybrids.</strong>
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[<a href="https://doi.org/10.1007/BF00569225" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archpedi.1996.02170310079015" target="_blank">Full Text</a>]
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<strong>Novel assay for Roberts syndrome assigns variable phenotypes to one complementation group.</strong>
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[<a href="https://doi.org/10.1002/1096-8628(20000731)93:3&lt;223::aid-ajmg13&gt;3.0.co;2-j" target="_blank">Full Text</a>]
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<strong>Mapping of a single locus capable of complementing the defective heterochromatin phenotype of Roberts syndrome cells.</strong>
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[<a href="https://doi.org/10.1086/431328" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320260113" target="_blank">Full Text</a>]
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<strong>SC phocomelia syndrome, premature centromere separation and congenital cranial nerve paralysis in two sisters, one with malignant melanoma.</strong>
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[<a href="https://doi.org/10.1002/ajmg.1320240410" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00275195" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320040305" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1987.tb02790.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1159/000154296" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1994.tb04004.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1086/498695" target="_blank">Full Text</a>]
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<strong>Hypopigmented patches in Roberts/SC phocomelia syndrome occur via aneuploidy susceptibility.</strong>
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[<a href="https://doi.org/10.1016/j.ejmg.2018.12.013" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1159/000154204" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/pd.1970120211" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.16.6.486" target="_blank">Full Text</a>]
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<strong>Ueber das Zusammentreffen von Hasenscharte mit ernsten Extremitaeten-Missbildungen.</strong>
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[<a href="https://doi.org/10.1002/ajmg.1320040104" target="_blank">Full Text</a>]
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<strong>Abnormalities in the cell-division cycle in Roberts syndrome fibroblasts: a cellular basis for the phenotypic characteristics?</strong>
Am. J. Hum. Genet. 36: 1332-1340, 1984.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6517054/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6517054</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6517054" 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="55" class="mim-anchor"></a>
<a id="Urban1998" class="mim-anchor"></a>
<div class="">
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Urban, M., Opitz, C., Bommer, C., Enders, H., Tinschert, S., Witkowski, R.
<strong>Bilaterally cleft lip, limb defects, and haematological manifestations: Roberts syndrome versus TAR syndrome.</strong>
Am. J. Med. Genet. 79: 155-160, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9788553/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9788553</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9788553" 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(19980923)79:3&lt;155::aid-ajmg1&gt;3.0.co;2-m" target="_blank">Full Text</a>]
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<a id="56" class="mim-anchor"></a>
<a id="Urban1997" class="mim-anchor"></a>
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Urban, M., Rogalla, P., Tinschert, S., Krietsch, P.
<strong>Tetraphocomelia and bilateral cleft lip in a historical case of Roberts syndrome (Virchow, 1988).</strong>
Am. J. Med. Genet. 72: 307-314, 1997.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9332660/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9332660</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9332660" 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(19971031)72:3&lt;307::aid-ajmg11&gt;3.0.co;2-x" target="_blank">Full Text</a>]
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<a id="Van Den Berg1993" class="mim-anchor"></a>
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Van Den Berg, D. J., Francke, U.
<strong>Roberts syndrome: a review of 100 cases and a new rating system for severity.</strong>
Am. J. Med. Genet. 47: 1104-1123, 1993.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8291532/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8291532</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8291532" 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.1320470735" target="_blank">Full Text</a>]
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<a id="58" class="mim-anchor"></a>
<a id="Vega2010" class="mim-anchor"></a>
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Vega, H., Trainer, A. H., Gordillo, M., Crosier, M., Kayserili, H., Skovby, F., Uzielli, M. L. G., Schnur, R. E., Manouvrier, S., Blair, E., Hurst, J. A., Forzano, F., Meins, M., Simola, K. O. J., Raas-Rothschild, A., Hennekam, R. C. M., Jabs, E. W.
<strong>Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome.</strong>
J. Med. Genet. 47: 30-37, 2010.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19574259/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19574259</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19574259" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmg.2009.068395" target="_blank">Full Text</a>]
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<a id="59" class="mim-anchor"></a>
<a id="Vega2005" class="mim-anchor"></a>
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Vega, H., Waisfisz, Q., Gordillo, M., Sakai, N., Yanagihara, I., Yamada, M., van Gosliga, D., Kayserili, H., Xu, C., Ozono, K., Jabs, E. W., Inui, K., Joenje, H.
<strong>Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion.</strong>
Nature Genet. 37: 468-470, 2005.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15821733/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15821733</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15821733" 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/ng1548" target="_blank">Full Text</a>]
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<a id="60" class="mim-anchor"></a>
<a id="Virchow1898" class="mim-anchor"></a>
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Virchow, R.
<strong>Die Phokomelen und das Barenweib.</strong>
Verh. Berl. Gesell. Anthrop. 30: 55-61, 1898.
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<a id="61" class="mim-anchor"></a>
<a id="Waldenmaier1978" class="mim-anchor"></a>
<div class="">
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Waldenmaier, C., Aldenhoff, P., Klemm, T.
<strong>Roberts' syndrome.</strong>
Hum. Genet. 40: 345-349, 1978.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/631853/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">631853</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=631853" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1007/BF00272196" target="_blank">Full Text</a>]
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<a id="Zergollern1976" class="mim-anchor"></a>
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Zergollern, L., Hitrec, V.
<strong>Three siblings with Robert's syndrome.</strong>
Clin. Genet. 9: 433-436, 1976.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/177235/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">177235</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=177235" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.1976.tb02273.x" target="_blank">Full Text</a>]
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<a id="Zergollern1982" class="mim-anchor"></a>
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Zergollern, L., Hitrec, V.
<strong>Four siblings with Robert's syndrome.</strong>
Clin. Genet. 21: 1-6, 1982.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7067161/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7067161</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7067161" 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.1399-0004.1982.tb02071.x" target="_blank">Full Text</a>]
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Carol A. Bocchini - updated : 02/22/2021
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Marla J. F. O'Neill - updated : 3/21/2013<br>Ada Hamosh - updated : 12/20/2011<br>Cassandra L. Kniffin - updated : 6/17/2010<br>Cassandra L. Kniffin - updated : 10/9/2009<br>Marla J. F. O'Neill - updated : 10/1/2009<br>Anne M. Stumpf - updated : 3/15/2006<br>Victor A. McKusick - updated : 6/17/2005<br>Victor A. McKusick - updated : 5/2/2005<br>Victor A. McKusick - updated : 3/6/2003<br>Victor A. McKusick - updated : 8/17/2000<br>Victor A. McKusick - updated : 12/29/1998<br>Victor A. McKusick - updated : 11/11/1997<br>Iosif W. Lurie - updated : 8/10/1996
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Victor A. McKusick : 6/4/1986
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alopez : 01/03/2023
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<strong>#</strong> 268300
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<span class="mim-font">
ROBERTS-SC PHOCOMELIA SYNDROME; RBS
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<em>Alternative titles; symbols</em>
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ROBERTS SYNDROME<br />
SC PHOCOMELIA SYNDROME<br />
LONG BONE DEFICIENCIES ASSOCIATED WITH CLEFT LIP-PALATE<br />
SC PSEUDOTHALIDOMIDE SYNDROME
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<strong>SNOMEDCT:</strong> 48718006; &nbsp;
<strong>ORPHA:</strong> 3103; &nbsp;
<strong>DO:</strong> 5325; &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">
8p21.1
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Roberts-SC phocomelia syndrome
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268300
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Autosomal recessive
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3
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ESCO2
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609353
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that Roberts-SC phocomelia syndrome (RBS) is caused by homozygous or compound heterozygous mutation in the ESCO2 gene (609353) on chromosome 8p21.</p>
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<strong>Description</strong>
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<p>Roberts-SC phocomelia syndrome (RBS) is a rare autosomal recessive disorder clinically characterized by prenatal-onset growth retardation that continues in the postnatal period, extremity malformations, craniofacial anomalies, impaired intellectual development, and cardiac and renal anomalies. Prenatal-onset growth retardation may be mild to severe. The upper limbs are more affected than the lower limbs, where variations from tetraphocomelia (symmetrical limb reduction) to hypomelia arising from mesomelic shortness are seen. Elbow and knee contractures, reduction in the number and length of fingers, thumb aplasia and hypoplasia, and clinodactyly may also be observed. Severely affected patients may die during pregnancy or the neonatal period, whereas slightly affected patients will reach adulthood (summary by Goh et al., 2010 and Sezer et al., 2019). </p>
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<strong>Clinical Features</strong>
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<p>Roberts (1919) described 3 affected sibs of first-cousin Italian parents. Pictures were included. The bones of the legs were almost absent and those of the arms hypoplastic. Bilateral cleft lip and cleft palate were present. The skull looked oxycephalic with prominent eyes, as in Crouzon syndrome (123500). The patient of Stroer (1939), also of first-cousin parents, may have had the same disorder. Appelt et al. (1966) described cases and pointed out that clitoral or penile enlargement is a feature. Corneal opacities occur in this disorder.</p><p>In a family with surname beginning with S and another with surname beginning with C, Herrmann et al. (1969) described a syndrome consisting of the following features: (1) nearly symmetrical reductive malformations of the limbs, resembling phocomelia; (2) flexion contractures of various joints; (3) multiple minor anomalies, including capillary hemangioma of the face, forehead and ears, hypoplastic cartilages of the ears and nose, micrognathia, scanty, silvery-blond hair, and cloudy corneas; (4) intrauterine and extrauterine growth retardation; (5) possibly mental retardation, and (6) autosomal recessive inheritance.</p><p>Hall and Greenberg (1972) described an 8-year-old girl with SC syndrome who was mentally normal. They were impressed with hypotrichosis and midfacial hemangioma, for which reason they proposed the designation hypomelia-hypotrichosis-facial hemangioma syndrome. They emphasized a characteristic appearance of the face. Although the SC phocomelia syndrome is sometimes referred to as the pseudothalidomide syndrome, some cases of the Holt-Oram syndrome (142900) may be more deserving of that name (Lenz et al., 1974). Humeroradial synostosis was also a feature; see 143050 and 236400. </p><p>Freeman et al. (1974) reviewed the features of Roberts syndrome. They cited the differences thought to differentiate it from SC syndrome as prominence of the external genitalia, the lack of silvery-blond hair and blue sclerae, and presence of ulnar rather than radial abnormalities of the upper extremities. </p><p>Grosse et al. (1975) described a case of what they termed the tetraphocomelia-cleft palate syndrome. Capillary hemangioma of the glabella and lids and fine silvery-blond hair were described. The authors questioned the separateness of Roberts syndrome and SC phocomelia syndrome. </p><p>By an analysis of phenotype, Herrmann and Opitz (1977) could not tell whether the SC phocomelia syndrome and the Roberts syndrome were 'due to different recessive genes, different alleles, or the same recessive gene.' </p><p>Because of overlapping features in their patient, Waldenmaier et al. (1978) suggested that the SC phocomelia syndrome and the TAR syndrome (274000) are not separate from Roberts syndrome. </p><p>Tomkins et al. (1979) noted the uncertainty as to whether Roberts syndrome and the SC syndrome are separate entities. They found a consistent centromeric abnormality of the chromosomes, namely, puffing and splitting, in 4 patients who had certain clinical features in common: bilateral corneal opacities, microcephaly, absence of radii, limitation of extension at the elbows and knees, enlargement of the phallus, and survival beyond the neonatal period. </p><p>Qazi et al. (1979) described chromosomal abnormalities in SC phocomelia that were similar to those in Roberts syndrome. </p><p>Fryns et al. (1980) reported identical twins concordant for the tetraphocomelia-cleft palate syndrome. Since the twins showed the severe tetraphocomelia of Roberts syndrome and the less prominent craniofacial abnormalities of the pseudothalidomide syndrome, the authors favored the view that these two entities are one. </p><p>Stoll et al. (1979) raised the question of phenocopy of Roberts syndrome resulting from maternal ingestion of clonidine, an antihypertensive medication. </p><p>Da Silva and Bezerra (1982) reported 4 affected sibs with Roberts syndrome whose parents were first cousins. </p><p>In a Christian Lebanese family, BenEzra et al. (1982) observed 2 brothers with radial aplasia and abnormality of anterior chamber cleavage in the eye. Both showed a normal XY karyotype except for unusual sister chromatid disjunction at the centromeric region during prophase and metaphase. In the first brother, the radius and thumbs were absent and the tibia and fibula were relatively short; bilateral microphthalmia with central corneal leukoma was described, as well as moderate micrognathia and aplasia of the alae nasi. The second brother had extensive facial hemangioma, total cleft palate, total aplasia of the radius and ulna, marked shortening of the humerus, absent thumbs, absent fibula, and deformed tibia. Comment concerning parental consanguinity was not made. Presumably, this disorder falls into the same group as Roberts syndrome and SC phocomelia syndrome. </p><p>Tomkins and Sisken (1984) suggested that impediment to cellular growth is responsible for reduced pre- and postnatal growth rates and also for the developmental abnormalities in Roberts syndrome. </p><p>Parry et al. (1986) reported the cases of 2 middle-aged sisters with most of the manifestations of the SC phocomelia syndrome including postnatal growth retardation, symmetric limb deficiencies with radial aplasia and absent thumbs, facial anomalies with microcephaly, microphthalmia, hypoplastic nasal alae, and borderline to mild mental retardation. Unusual findings included congenital paralysis of some cranial nerves in both and malignant melanoma in 1. Tumor cells and cultured lymphocytes and fibroblasts of both patients showed premature separation of centromeric heterochromatin (PCS). PCS has been reported in lymphocytes and/or fibroblasts from at least 17 patients whose clinical phenotypes cover the range of the Roberts syndrome at the severe end and the SC phocomelia syndrome at the milder end (Parry et al., 1986). This argues that the 2 syndromes represent the same clinical entity. </p><p>Krassikoff et al. (1986) found that aneuploid cells from a metastatic melanoma in a patient with the Roberts/SC phocomelia syndrome, aged 32 years, showed a reduced frequency of PCS. Furthermore, when the patient's fibroblasts, which showed a high frequency of PCS, were cocultivated with either an immortal hamster cell line or with a human male fibroblast strain carrying a t(4;6) translocation, the phenomenon was neither corrected in the patient's cells nor induced in the other cells. In each experiment, only the patient's metaphase spreads showed PCS. In fusion hybrids between the patient's fibroblasts and an established Chinese cell line, however, the human chromosomes behaved normally. No chromatid repulsion (PCS) was observed, suggesting that the missing or mutant gene product in Roberts/SC phocomelia syndrome is supplied by the Chinese hamster genome. </p><p>Romke et al. (1987) reported a family in which 3 sibs had various manifestations of Roberts syndrome or SC phocomelia, leading them to conclude that the 2 syndromes are the same genetic entity. </p><p>Opitz and Lowry (1987) stated that early on they had the impression that the Roberts syndrome and the SC pseudothalidomide syndrome may occur in different members of the same sibship and that the identification of identical cytological markers complements the conclusion of nosologic identity (as well as effective prenatal diagnosis). </p><p>Fryns et al. (1987) described 2 sibs with tetraphocomelia typical of Roberts syndrome: there was almost complete reduction of the midparts of the upper and lower limbs, and characteristic oligodactyly with absent nails. Neither cleft lip/cleft palate nor eye anomalies were present. Furthermore, premature centromere separation was not observed. The facies was unusual, consisting of a beaked nose, short philtrum, and triangular mouth. </p><p>Holmes-Siedle et al. (1990) described what they called the Roberts/SC phocomelia syndrome in 3 sibs of second-cousin parents. One child survived to age 9. A somewhat unusual feature was craniosynostosis; overlap with the Baller-Gerold syndrome (218600), which has craniosynostosis as a feature, was discussed. </p><p>Huson et al. (1990) described a patient with craniostenosis and radial aplasia, which led to an initial diagnosis of Baller-Gerold syndrome. Mild fibular hypoplasia on skeletal survey led to review of the diagnosis, and similarity of the facial phenotype to that of Roberts syndrome was noted. Chromosome analysis showed the premature centromere separation characteristic of that condition. Huson et al. (1990) suggested that cases diagnosed as having Baller-Gerold syndrome should have cytogenetic analysis and, conversely, that known Roberts syndrome survivors should be reviewed for signs of craniostenosis. </p><p>Keppen et al. (1991) described an infant with the clinical diagnosis of Roberts syndrome, but without the premature separation of centromeric heterochromatin and typical abnormalities of the cell division cycle reported in this condition. </p><p>Maserati et al. (1991) described 5 cases of Roberts syndrome in 4 nuclear families; in 3 of the families, the parents were consanguineous. They pictured affected sisters at ages 23 and 15 and emphasized the wide range of variability in the phenotype. The affected sisters had bilateral radial aplasia, hypoplastic ulnas and malformed hands; in the lower limbs, they had aplasia of the fibula with a bent tibia and bilateral clubfoot. At the other extreme was severe tetraphocomelia with death at or soon after birth. </p><p>Feingold (1992) provided follow-up on the 'C-patient' originally reported by Herrmann et al. (1969). At age 14 the patient developed moyamoya disease (252350) causing left hemiparesis. Chromosome studies showed premature centromere separation characteristic of this syndrome, i.e., splaying of the heterochromatin, repulsion of the short arms of the acrocentric chromosomes, and splaying of Y chromosome heterochromatin. At the age of 23 the patient developed chest pain and electrocardiographic changes indicative of anterior myocardial infarction. Subsequently he was found to have an apical aneurysm of the left ventricle with apical thrombosis and died of congestive heart failure. He remained short throughout his life; his final height was 139 cm. Although his facial characteristics remained constant, his scanty silvery blond hair became brown and less sparse. Mild valvular aortic stenosis was diagnosed at one time. The same syndrome was probably described by O'Brien and Mustard (1921) in 3 of 8 children of normal parents who were related as double first cousins. </p><p>Van Den Berg and Francke (1993) provided a review of 100 cases of Roberts syndrome and defined a new rating system for quantitating severity. </p><p>Satar et al. (1994) described a male infant who, in addition to typical manifestations of Roberts syndrome, had atrial septal defect, rudimentary gallbladder, and accessory spleen. </p><p>Sinha et al. (1994) reviewed clinical heterogeneity of the skeletal dysplasia in Roberts syndrome. Sabry (1995) suggested that, in the light of contemporary molecular and developmental genetics, such heterogeneity would not be surprising with different mutations in the same gene or with mutations in closely related genes of the same family. Sabry (1995) raised the possibility that the mutations may lie in centromere-related proteins, which may also have a role in body patterning. </p><p>Urban et al. (1998) described a 13-year-old boy who illustrated the phenotypic overlap between Roberts syndrome and TAR syndrome. The mother had an isolated left cleft of the lip and a cleft palate. The boy presented at birth with bilateral cleft lip/cleft palate, phocomelia of upper limbs with normal hands, and mild symmetric deficiencies of the long bones of the lower limbs. A leukemoid reaction occurred during a urinary tract infection as well as intermittent thrombocytopenia and episodes of marked eosinophilia during the first 2 years of life. Intellectual development was normal. </p><p>Goh et al. (2010) studied a 31-year-old man who was referred for short stature and subaortic stenosis; the latter had been repaired at 8 years of age but recurred in adulthood, requiring reoperation. Upon examination he had short stature and dysmorphic features, including hypertelorism, downslanting palpebral fissures, prominent nasal bridge, and hypoplastic alae nasi with prominent columella. His ears were simple and slightly posteriorly angulated; he had a high palate and mild retrognathia. His extremities displayed no obvious defects, but careful measurement showed limb lengths ranging from less than the 50th centile to less than the 5th centile for adult males. Karyotype showed premature centromere separation in all metaphases. Skeletal survey showed no limb reduction defects, but there was evidence of hypertelorism, mild brachymetacarpalia, brachyphalangy, and short femoral necks. Analysis of the ESCO2 gene revealed homozygosity for a truncating mutation. Goh et al. (2010) reviewed previously reported adult cases of Roberts syndrome/SC phocomelia, and noted that this case highlighted the variability in the RBS/SC phocomelia spectrum and demonstrated that clinically apparent limb anomaly might not be an obligate feature for diagnosis of the condition. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Inheritance</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Consanguinity in the family with RBS reported by Roberts (1919) suggested autosomal recessive inheritance. The transmission pattern of RBS in the families reported by Herrmann et al. (1969) was consistent with autosomal recessive inheritance.</p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Diagnosis</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Vega et al. (2010) established clinical criteria for a diagnosis of Roberts syndrome based on a cohort of 49 patients, including 18 reported previously, with the disorder confirmed by genetic analysis. The clinical criteria were delineated to include growth retardation, symmetric mesomelic shortening of the limbs in which the upper limbs were more commonly and severely affected than the lower limbs, and characteristic facies with microcephaly. The severity of malformations of the facies correlated with the severity of limb reduction. There were some significant associations: patients without corneal opacities were less likely to present with cardiac anomalies (p = 0.0022) and those with corneal opacities were more likely to present with mental retardation (p = 0.0006) </p><p><strong><em>Prenatal Diagnosis</em></strong></p><p>
Hirschhorn and Kaffe (1992) pointed out that they had made a prenatal diagnosis of Roberts syndrome in a family at risk by detection of skeletal and renal abnormalities (Kaffe et al., 1977). </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Cytogenetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Zergollern and Hitrec (1982) concluded that the Roberts and SC phocomelia syndromes are one entity. In a sibship with 4 affected, they found silver-blond hair, typical of SC, in 1; 2 had cloudy corneas typical of SC. They described chromosomal changes similar to those described by others and proposed their use in prenatal diagnosis. The chromosomal abnormality involves the heterochromatic, C-banding regions of most chromosomes. In addition to the above noted puffing of heterochromatic regions around the centromeres and nucleolar organizers, the heterochromatin of the long arms of the Y chromosome is often widely separated in metaphase spreads. German (1979) suggested that these configurations result from a repulsion or lack of attraction between the chromatids in these regions leading to premature separation during prophase and metaphase. Maserati et al. (1991) used indirect immunofluorescence with serum antibodies from patients with CREST (181750) to demonstrate that the centromeric structures are normal in Roberts syndrome, thus confirming the assumption of German (1979) that chromatid repulsion is confined to the heterochromatin. Studies suggested that heterozygotes can be screened by the phenomenon of centromeric heterochromatin separation. </p><p>Jabs et al. (1991) presented evidence that Roberts syndrome is a 'mitotic mutant.' They emphasized that, in addition to previously described changes, aneuploidy with random chromosome loss and micronuclei and/or nuclear lobulation in the interphase cells are characteristic. They considered it unlikely that the defect in this disorder is in one of the structural proteins of the kinetochore. They suggested, however, that the defect might lie in one of the proteins transiently associated with the kinetochore and involved in its function. Stioui et al. (1992) detected premature centromere separation on chorionic villus sampling at 8 weeks' gestation in a woman at risk of recurrence of Roberts syndrome. </p><p>Lopez-Allen et al. (1996) pictured an afflicted newborn infant and the chromosome changes. </p><p>Allingham-Hawkins and Tomkins (1995) pointed out that some Roberts syndrome patients (referred to as RS+), but not others (RS-), have an abnormality of their constitutive heterochromatin and show cellular hypersensitivity to DNA damaging agents such as mitomycin C. Lymphoblastoid cell lines from 2 unrelated RS+ patients were fused and hybrid cells examined for correction of these 2 defects. Neither cellular defect was corrected in the 2 hybrid cell lines, suggesting that the patients represent a single complementation group. On the other hand, fusions between 1 RS+ cell line and 2 different RS- cell lines produced in each case hybrids demonstrating correction of both defects. This suggested that RS+ and RS- patients belong to different complementation groups and do not arise from the same single gene mutation. </p><p>McDaniel et al. (2000) described a new assay for in vitro complementation and assigned a severely affected patient to the same complementation group defined by other, less severely affected patients. They suggested that a single complementation group defines RBS patients with heterochromatic splaying regardless of clinical severity. McDaniel et al. (2005) used complementation of the abnormal cytogenetic phenotype of Roberts syndrome, referred to as 'heterochromatic repulsion,' to identify a specific region of the normal human genome capable of rendering phenotypic correction. Using a transient chromosome-transfer assay, they screened the entire human genome and demonstrated complementation exclusively after the transfer of proximal chromosome 8p, a result subsequently confirmed by stable microcell-mediated chromosome transfer. Additionally, homozygosity mapping was used to refine the interval of this complementing locus to 8p21. These findings were all consistent with those of Vega et al. (2005). </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Population Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Bermejo-Sanchez et al. (2011) reported epidemiologic data on phocomelia from 19 birth defect surveillance programs, all members of the International Clearinghouse for Birth Defects Surveillance and Research. Depending on the program, data corresponded to a period from 1968 through 2006. A total of 22,740,933 live births, stillbirths, and, for some programs, elective terminations of pregnancy for fetal anomaly were monitored. After a detailed review of clinical data, only true phocomelia cases were included. Descriptive data were presented and additional analyses compared isolated cases with those with multiple congenital anomalies (MCA), excluding syndromes. Bermejo-Sanchez et al. (2011) also briefly compared congenital anomalies associated with nonsyndromic phocomelia with those presented with amelia (see 601360), another rare severe congenital limb defect. A total of 141 phocomelia cases registered gave an overall total prevalence of 0.62 per 100,000 births (95% confidence interval 0.52-0.73). Three programs, Australia Victoria, South America ECLAMC, and Italy North East, had significantly different prevalence estimates. Most cases (53.2%) had isolated phocomelia, while 9.9% had syndromes. Most nonsyndromic cases were monomelic (55.9%), with an excess of left (64.9%) and upper limb (64.9%) involvement. Most nonsyndromic cases (66.9%) were live births; most isolated cases (57.9%) weighed more than 2,499 grams; most MCA (60.7%) weighed less than 2,500 grams and were more likely stillbirths (30.8%) or terminations (15.4%) than isolated cases. The most common associated defects were musculoskeletal, cardiac, and intestinal. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Mapping</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Vega et al. (2005) identified 7 families affected with Roberts syndrome in 2 isolated villages near Bogota, Colombia. After discovering a common ancestor in the 18th century by genealogic studies of 4 families, they began a genomewide search for the disease-associated locus by homozygosity mapping. The final analysis reported linkage for 8p21.2-p12 between markers D8S258 and D8S505. With additional families and fine mapping, they confirmed a region of homozygosity in all 11 affected individuals studied. Multipoint analysis gave a maximum lod score of 13.4 at D8S1839. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Using a candidate gene approach, Vega et al. (2005) identified the ESCO2 gene within the Roberts syndrome critical region on chromosome 8 and found 8 different mutations in this gene in 18 affected individuals from 15 affected families of different ethnic backgrounds. They identified 1 missense mutation, 1 nonsense mutation, and 6 frameshift mutations (see, e.g., 609353.0001-609353.0003). The ESCO2 protein product is a member of a conserved protein family that is required for the establishment of sister chromatid cohesion during S phase and has putative acetyltransferase activity. </p><p>In one of the original families described by Herrmann et al. (1969) and in the sisters described by Parry et al. (1986) with SC phocomelia, Schule et al. (2005) found compound heterozygosity for mutations in the ESCO2 gene (see 609353.0004 and 609353.0006). Altogether Schule et al. (2005) found 7 novel mutations in exons 3 through 8 of the ESCO2 gene in 6 individuals with SC phocomelia from 5 families. </p><p>Gordillo et al. (2008) concluded that Roberts syndrome and SC phocomelia are the same syndrome with varying phenotypic expression. They analyzed the ESCO2 gene in 16 Roberts syndrome/SC phocomelia pedigrees with 17 affected individuals and identified 15 different mutations; 13 individuals were homozygous, and 4 were compound heterozygous for the mutations. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Genotype/Phenotype Correlations</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>In an analysis of 49 patients with ESCO2 mutations, including 18 previously reported cases, Vega et al. (2010) found no clear genotype/phenotype correlation. However, the presence or absence of corneal opacities segregated with specific mutations in some cases. All 7 individuals from 4 families with the 750insG mutation (609353.0003) lacked corneal opacities, whereas all 5 patients with the R169X mutation (609353.0002) had corneal opacities. In addition, patients without corneal opacities were less likely to present with cardiac abnormalities, and patients with corneal opacities were more likely to present with mental retardation. Skeletal defects were more common in patients with cleft lip/palate. Vega et al. (2010) found that both Roberts syndrome and SC phocomelia could be caused by the same mutation in different members of the same family, indicating that the 2 disorders represent a phenotypic spectrum. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>History</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Urban et al. (1997) described a specimen of tetraphocomelia and bilaterally cleft lip recovered from what had been the Virchow Museum of Humboldt University in Berlin and showed convincingly that this was the specimen reported by Virchow (1898). This was clearly an instance of Roberts syndrome. </p><p>Bates (2003) reproduced the report of a case of Roberts syndrome by Francois Bouchard in 1672. </p><p>Kompanje (2009) commented on the report of Bates (2003), noting that Francois Bouchard had actually translated the original report that was written by the French surgeon Francois Deboze from Lyon. Other historical details were clarified. </p>
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>See Also:</strong>
</span>
</h4>
<span class="mim-text-font">
Bokesoy et al. (1982); Ekong and Rozidlsky (1978); Graham et al.
(1983); Klein et al. (1978); Leonard et al. (1982); Louie and German
(1981); Petrinelli et al. (1984); Pfeiffer and Zwerner (1982);
Zergollern and Hitrec (1976)
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
</span>
</h4>
<div>
<p />
</div>
<div>
<ol>
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<p class="mim-text-font">
Allingham-Hawkins, D. J., Tomkins, D. J.
<strong>Heterogeneity in Roberts syndrome.</strong>
Am. J. Med. Genet. 55: 188-194, 1995.
[PubMed: 7536395]
[Full Text: https://doi.org/10.1002/ajmg.1320550208]
</p>
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Appelt, J., Gerken, H., Lenz, W.
<strong>Tetraphokomelie mit Lippen-Kiefer-Gaumenspalte und Klitorishypertrophie--ein Syndrom.</strong>
Paediat. Paedol. 2: 119-124, 1966.
</p>
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<p class="mim-text-font">
Bates, A. W.
<strong>Autopsy on a case of Roberts syndrome reported in 1672: the earliest description?</strong>
Am. J. Med. Genet. 117A: 92-96, 2003.
[PubMed: 12548750]
[Full Text: https://doi.org/10.1002/ajmg.a.10864]
</p>
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<p class="mim-text-font">
BenEzra, D., Abulafia, H., Maftzir, G., Yatziv, S., Paez, J., Zelikovitch, A.
<strong>Radial aplasia, chromosomal aberration, and anterior chamber cleavage manifestations in two siblings.</strong>
Birth Defects Orig. Art. Ser. 18(6): 571-575, 1982.
[PubMed: 7171776]
</p>
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<p class="mim-text-font">
Bermejo-Sanchez, E., Cuevas, L., Amar, E., Bianca, S., Bianchi, F., Botto, L. D., Canfield, M. A., Castilla, E. E., Clementi, M., Cocchi, G., Landau, D., Leoncini, E., and 10 others.
<strong>Phocomelia: a worldwide descriptive epidemiologic study in a large series of cases from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature.</strong>
Am. J. Med. Genet. C Semin. Med. Genet. 157C: 305-320, 2011.
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[Full Text: https://doi.org/10.1002/ajmg.c.30320]
</p>
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<p class="mim-text-font">
Bokesoy, I., Balci, S., Bilgic, S.
<strong>A case of SC-phocomelia syndrome with nonrandom centromere separation. In: Papadatos, C. J.; Bartsocas, C. S. (eds.): Skeletal Dysplasias.</strong>
New York: Alan R. Liss (pub.) 1982. Pp. 351-356.
</p>
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<p class="mim-text-font">
da Silva, E. O., Bezerra, L. H. G. E.
<strong>The Roberts syndrome.</strong>
Hum. Genet. 61: 372-374, 1982.
[PubMed: 7152521]
[Full Text: https://doi.org/10.1007/BF00276604]
</p>
</li>
<li>
<p class="mim-text-font">
Ekong, C. E. U., Rozidlsky, B.
<strong>Hydranencephaly in association with Roberts syndrome.</strong>
J. Canad. Sci. Neurol. 5: 253-255, 1978.
</p>
</li>
<li>
<p class="mim-text-font">
Feingold, M.
<strong>History of C-patient with SC-Roberts/pseudothalidamide (sic) syndrome. (Letter)</strong>
Am. J. Med. Genet. 43: 898-899, 1992.
[PubMed: 1642282]
[Full Text: https://doi.org/10.1002/ajmg.1320430532]
</p>
</li>
<li>
<p class="mim-text-font">
Freeman, M. V. R., Williams, D. W., Schimke, R. N., Temtamy, S. A.
<strong>The Roberts syndrome.</strong>
Clin. Genet. 5: 1-16, 1974.
[PubMed: 4151884]
[Full Text: https://doi.org/10.1111/j.1399-0004.1974.tb01652.x]
</p>
</li>
<li>
<p class="mim-text-font">
Fryns, J., Goddeeris, P., Moerman, F., Herman, F., van den Berghe, H.
<strong>The tetraphocomelia-cleft palate syndrome in identical twins.</strong>
Hum. Genet. 53: 279-281, 1980.
[PubMed: 7188929]
[Full Text: https://doi.org/10.1007/BF00273512]
</p>
</li>
<li>
<p class="mim-text-font">
Fryns, J. P., Kleczkowska, A., Moerman, P., Van Den Berghe, K., Van Den Berghe, H.
<strong>The Roberts tetraphocomelia syndrome: identical limb defects in two siblings.</strong>
Ann. Genet. 30: 243-245, 1987.
[PubMed: 3501269]
</p>
</li>
<li>
<p class="mim-text-font">
German, J.
<strong>Robert&#x27;s syndrome. I. Cytological evidence for a disturbance in chromatid pairing.</strong>
Clin. Genet. 16: 441-447, 1979.
[PubMed: 527250]
[Full Text: https://doi.org/10.1111/j.1399-0004.1979.tb01354.x]
</p>
</li>
<li>
<p class="mim-text-font">
Goh, E. S-Y., Li, C., Horsburgh, S., Kasai, Y., Kolomietz, E., Morel, C. F.
<strong>The Roberts syndrome/SC phocomelia spectrum--a case report of an adult with review of the literature.</strong>
Am. J. Med. Genet. 152A: 472-478, 2010.
[PubMed: 20101700]
[Full Text: https://doi.org/10.1002/ajmg.a.33261]
</p>
</li>
<li>
<p class="mim-text-font">
Gordillo, M., Vega, H., Trainer, A. H., Hou, F., Sakai, N., Luque, R., Kayserili, H., Basaran, S., Skovby, F., Hennekam, R. C. M., Giovannucci Uzielli, M. L., Schnur, R. E., and 14 others.
<strong>The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase.</strong>
Hum. Molec. Genet. 17: 2172-2180, 2008.
[PubMed: 18411254]
[Full Text: https://doi.org/10.1093/hmg/ddn116]
</p>
</li>
<li>
<p class="mim-text-font">
Graham, J. M., Jr., Stephens, T. D., Shepard, T. H.
<strong>Nuchal cystic hygroma in a fetus with presumed Roberts syndrome. (Letter)</strong>
Am. J. Med. Genet. 15: 163-167, 1983.
[PubMed: 6859118]
[Full Text: https://doi.org/10.1002/ajmg.1320150126]
</p>
</li>
<li>
<p class="mim-text-font">
Grosse, F. R., Pandel, C., Wiedemann, H. R.
<strong>The tetraphocomelia--cleft palate syndrome: description of a new case.</strong>
Humangenetik 28: 353-356, 1975.
[PubMed: 1176127]
[Full Text: https://doi.org/10.1007/BF00284811]
</p>
</li>
<li>
<p class="mim-text-font">
Hall, B. D., Greenberg, M. H.
<strong>Hypomelia-hypotrichosis-facial hemangioma syndrome (pseudothalidomide, SC syndrome, SC phocomelia syndrome).</strong>
Am. J. Dis. Child. 123: 602-604, 1972.
[PubMed: 5033248]
[Full Text: https://doi.org/10.1001/archpedi.1972.02110120126020]
</p>
</li>
<li>
<p class="mim-text-font">
Herrmann, J., Feingold, M., Tuffli, G. A., Opitz, J. M.
<strong>A familial dysmorphogenetic syndrome of limb deformities, characteristic facial appearance and associated anomalies: the &#x27;pseudothalidomide&#x27; or &#x27;SC-syndrome&#x27;.</strong>
Birth Defects Orig. Art. Ser. V(3): 81-89, 1969.
</p>
</li>
<li>
<p class="mim-text-font">
Herrmann, J., Opitz, J. M.
<strong>The SC phocomelia and the Roberts syndrome: nosologic aspects.</strong>
Europ. J. Pediat. 125: 117-134, 1977.
[PubMed: 872834]
[Full Text: https://doi.org/10.1007/BF00489985]
</p>
</li>
<li>
<p class="mim-text-font">
Hirschhorn, K., Kaffe, S.
<strong>Prenatal diagnosis of Roberts syndrome. (Letter)</strong>
Prenatal Diag. 12: 976 only, 1992.
[PubMed: 1494554]
[Full Text: https://doi.org/10.1002/pd.1970121123]
</p>
</li>
<li>
<p class="mim-text-font">
Holmes-Siedle, M., Seres-Santamaria, A., Crocker, M., Hall, J. G., Crouchman, M.
<strong>A sibship with Roberts/SC phocomelia syndrome.</strong>
Am. J. Med. Genet. 37: 18-22, 1990.
[PubMed: 2240038]
[Full Text: https://doi.org/10.1002/ajmg.1320370106]
</p>
</li>
<li>
<p class="mim-text-font">
Huson, S. M., Rodgers, C. S., Hall, C. M., Winter, R. M.
<strong>The Baller-Gerold syndrome: phenotypic and cytogenetic overlap with Roberts syndrome.</strong>
J. Med. Genet. 27: 371-375, 1990.
[PubMed: 2359099]
[Full Text: https://doi.org/10.1136/jmg.27.6.371]
</p>
</li>
<li>
<p class="mim-text-font">
Jabs, E. W., Tuck-Muller, C. M., Cusano, R., Rattner, J. B.
<strong>Studies of mitotic and centromeric abnormalities in Roberts syndrome: implications for a defect in the mitotic mechanism.</strong>
Chromosoma 100: 251-261, 1991.
[PubMed: 2055135]
[Full Text: https://doi.org/10.1007/BF00344159]
</p>
</li>
<li>
<p class="mim-text-font">
Kaffe, S., Rose, J. S., Godmilow, L., Walker, B. A., Kerenyi, T., Beratis, N., Reyes, P., Hirschhorn, K.
<strong>Prenatal diagnosis of renal anomalies.</strong>
Am. J. Med. Genet. 1: 241-251, 1977.
[PubMed: 610432]
[Full Text: https://doi.org/10.1002/ajmg.1320010210]
</p>
</li>
<li>
<p class="mim-text-font">
Keppen, L. D., Gollin, S. M., Seibert, J. J., Sisken, J. E.
<strong>Roberts syndrome with normal cell division.</strong>
Am. J. Med. Genet. 38: 21-24, 1991.
[PubMed: 2012128]
[Full Text: https://doi.org/10.1002/ajmg.1320380106]
</p>
</li>
<li>
<p class="mim-text-font">
Klein, D., Tobler, R., Konig, H.
<strong>Hypomelia-hypotrichosis-facial-hemangioma syndrome associated with congenital glaucoma and other anomalies.</strong>
Doc. Ophthal. Proc. Ser. 17: 383-391, 1978.
</p>
</li>
<li>
<p class="mim-text-font">
Kompanje, E. J. O.
<strong>The earliest description of an autopsy on a case of Roberts syndrome reported in 1672: some additions. (Letter)</strong>
Am. J. Med. Genet. 149A: 1610-1611, 2009.
[PubMed: 19533786]
[Full Text: https://doi.org/10.1002/ajmg.a.32921]
</p>
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<p class="mim-text-font">
Krassikoff, N. E., Cowan, J. M., Parry, D. M., Francke, U.
<strong>Chromatid repulsion associated with Roberts/SC phocomelia syndrome is reduced in malignant cells and not expressed in interspecies somatic-cell hybrids.</strong>
Am. J. Hum. Genet. 39: 618-630, 1986.
[PubMed: 3788975]
</p>
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<p class="mim-text-font">
Lenz, W. D., Marquardt, E., Weicker, H.
<strong>Pseudothalidomide syndrome.</strong>
Birth Defects Orig. Art. Ser. X(5): 97-107, 1974.
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Leonard, P., Rendle-Short, J., Skardoon, L.
<strong>Roberts&#x27;--SC phocomelia syndrome with cytogenetic findings.</strong>
Hum. Genet. 60: 379-380, 1982.
[PubMed: 7106776]
[Full Text: https://doi.org/10.1007/BF00569225]
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<p class="mim-text-font">
Lopez-Allen, G., Hutcheon, R. G., Shaham, M., Tunnessen, W. W., Jr.
<strong>Picture of the month.</strong>
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Louie, E., German, J.
<strong>Roberts&#x27;s syndrome. II. Aberrant Y-chromosome behavior.</strong>
Clin. Genet. 19: 71-74, 1981.
[PubMed: 7193102]
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Maserati, E., Pasquali, F., Zuffardi, O., Buttitta, P., Cuoco, C., Defant, G., Gimelli, G., Fraccaro, M.
<strong>Roberts syndrome: phenotypic variation, cytogenetic definition and heterozygotic detection.</strong>
Ann. Genet. 34: 239-246, 1991.
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McDaniel, L. D., Prueitt, R., Probst, L. C., Wilson, K. S., Tomkins, D., Wilson, G. N., Schultz, R. A.
<strong>Novel assay for Roberts syndrome assigns variable phenotypes to one complementation group.</strong>
Am. J. Med. Genet. 93: 223-229, 2000.
[PubMed: 10925387]
[Full Text: https://doi.org/10.1002/1096-8628(20000731)93:3&lt;223::aid-ajmg13&gt;3.0.co;2-j]
</p>
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<p class="mim-text-font">
McDaniel, L. D., Tomkins, D. J., Stanbridge, E. J., Somerville, M. J., Friedberg, E. C., Schultz, R. A.
<strong>Mapping of a single locus capable of complementing the defective heterochromatin phenotype of Roberts syndrome cells.</strong>
Am. J. Hum. Genet. 77: 132-139, 2005.
[PubMed: 15887093]
[Full Text: https://doi.org/10.1086/431328]
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O'Brien, H. R., Mustard, H. S.
<strong>An adult living case of total phocomelia.</strong>
JAMA 77: 1964-1967, 1921.
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<p class="mim-text-font">
Opitz, J. M., Lowry, R. B.
<strong>Lincoln vs. Douglas again; comments on the papers by Curry et al, Greenberg et al, and Belmont et al. (Editorial)</strong>
Am. J. Med. Genet. 26: 69-71, 1987.
[PubMed: 3812580]
[Full Text: https://doi.org/10.1002/ajmg.1320260113]
</p>
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<li>
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Parry, D. M., Mulvihill, J. J., Tsai, S., Kaiser-Kupfer, M. I., Cowan, J. M.
<strong>SC phocomelia syndrome, premature centromere separation and congenital cranial nerve paralysis in two sisters, one with malignant melanoma.</strong>
Am. J. Med. Genet. 24: 653-672, 1986.
[PubMed: 3740099]
[Full Text: https://doi.org/10.1002/ajmg.1320240410]
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<p class="mim-text-font">
Petrinelli, P., Antonelli, A., Marcucci, L., Dallapiccola, B.
<strong>Premature centromere splitting in a presumptive mild form of Roberts syndrome.</strong>
Hum. Genet. 66: 96-99, 1984.
[PubMed: 6698562]
[Full Text: https://doi.org/10.1007/BF00275195]
</p>
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<li>
<p class="mim-text-font">
Pfeiffer, R. A., Zwerner, H.
<strong>The Roberts syndrome: report of a case without anomaly of the centromeric region.</strong>
Mschr. Kinderheilk. 130: 296-298, 1982.
[PubMed: 7110148]
</p>
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Qazi, Q. H., Kassner, E. G., Masakawa, A., Madahar, C., Choi, S. J.
<strong>The SC phocomelia syndrome: report of two cases with cytogenetic abnormality.</strong>
Am. J. Med. Genet. 4: 231-238, 1979.
[PubMed: 517578]
[Full Text: https://doi.org/10.1002/ajmg.1320040305]
</p>
</li>
<li>
<p class="mim-text-font">
Roberts, J. B.
<strong>A child with double cleft of lip and palate, protrusion of the intermaxillary portion of the upper jaw and imperfect development of the bones of the four extremities.</strong>
Ann. Surg. 70: 252-254, 1919.
</p>
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Romke, C., Froster-Iskenius, U., Heyne, K., Hohn, W., Hof, M., Grzejszczyk, G., Rauskolb, R., Rehder, H., Schwinger, E.
<strong>Roberts syndrome and SC phocomelia: a single genetic entity.</strong>
Clin. Genet. 31: 170-177, 1987.
[PubMed: 3568444]
[Full Text: https://doi.org/10.1111/j.1399-0004.1987.tb02790.x]
</p>
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Sabry, M. A.
<strong>Possible genetic heterogeneity in the Roberts-SC phocomelia syndrome. (Letter)</strong>
Hum. Hered. 45: 241-242, 1995.
[PubMed: 7558058]
[Full Text: https://doi.org/10.1159/000154296]
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Satar, M., Atici, A., Bisak, U., Tunali, N.
<strong>Roberts-SC phocomelia syndrome: a case with additional anomalies.</strong>
Clin. Genet. 45: 107-108, 1994.
[PubMed: 8004795]
[Full Text: https://doi.org/10.1111/j.1399-0004.1994.tb04004.x]
</p>
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Schule, B., Oviedo, A., Johnston, K., Pai, S., Francke, U.
<strong>Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation.</strong>
Am. J. Hum. Genet. 77: 1117-1128, 2005.
[PubMed: 16380922]
[Full Text: https://doi.org/10.1086/498695]
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Sezer, A., Kayhan, G., Zenker, M., Percin, E. F.
<strong>Hypopigmented patches in Roberts/SC phocomelia syndrome occur via aneuploidy susceptibility.</strong>
Europ. J. Med. Genet. 62: 103608, 2019. Note: Electronic Article.
[PubMed: 30590172]
[Full Text: https://doi.org/10.1016/j.ejmg.2018.12.013]
</p>
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Sinha, A. K., Verma, R. S., Mani, V. J.
<strong>Clinical heterogeneity of skeletal dysplasia in Roberts syndrome: a review.</strong>
Hum. Hered. 44: 121-126, 1994.
[PubMed: 8039795]
[Full Text: https://doi.org/10.1159/000154204]
</p>
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Stioui, S., Privitera, O., Brambati, B., Zuliani, G., Lalatta, F., Simoni, G.
<strong>First-trimester prenatal diagnosis of Roberts syndrome.</strong>
Prenatal Diag. 12: 145-149, 1992.
[PubMed: 1553361]
[Full Text: https://doi.org/10.1002/pd.1970120211]
</p>
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Stoll, C., Levy, J.-M., Beshara, D.
<strong>Roberts&#x27;s syndrome and clonidine.</strong>
J. Med. Genet. 16: 486-487, 1979.
[PubMed: 537023]
[Full Text: https://doi.org/10.1136/jmg.16.6.486]
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Stroer, W. F. H.
<strong>Ueber das Zusammentreffen von Hasenscharte mit ernsten Extremitaeten-Missbildungen.</strong>
Erbarzt 7: 101-104, 1939.
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Tomkins, D., Hunter, A., Roberts, M.
<strong>Cytogenetic findings in Roberts-SC phocomelia syndrome(s).</strong>
Am. J. Med. Genet. 4: 17-26, 1979.
[PubMed: 495649]
[Full Text: https://doi.org/10.1002/ajmg.1320040104]
</p>
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Tomkins, D. J., Sisken, J. E.
<strong>Abnormalities in the cell-division cycle in Roberts syndrome fibroblasts: a cellular basis for the phenotypic characteristics?</strong>
Am. J. Hum. Genet. 36: 1332-1340, 1984.
[PubMed: 6517054]
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Urban, M., Opitz, C., Bommer, C., Enders, H., Tinschert, S., Witkowski, R.
<strong>Bilaterally cleft lip, limb defects, and haematological manifestations: Roberts syndrome versus TAR syndrome.</strong>
Am. J. Med. Genet. 79: 155-160, 1998.
[PubMed: 9788553]
[Full Text: https://doi.org/10.1002/(sici)1096-8628(19980923)79:3&lt;155::aid-ajmg1&gt;3.0.co;2-m]
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Urban, M., Rogalla, P., Tinschert, S., Krietsch, P.
<strong>Tetraphocomelia and bilateral cleft lip in a historical case of Roberts syndrome (Virchow, 1988).</strong>
Am. J. Med. Genet. 72: 307-314, 1997.
[PubMed: 9332660]
[Full Text: https://doi.org/10.1002/(sici)1096-8628(19971031)72:3&lt;307::aid-ajmg11&gt;3.0.co;2-x]
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Van Den Berg, D. J., Francke, U.
<strong>Roberts syndrome: a review of 100 cases and a new rating system for severity.</strong>
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[PubMed: 8291532]
[Full Text: https://doi.org/10.1002/ajmg.1320470735]
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Vega, H., Trainer, A. H., Gordillo, M., Crosier, M., Kayserili, H., Skovby, F., Uzielli, M. L. G., Schnur, R. E., Manouvrier, S., Blair, E., Hurst, J. A., Forzano, F., Meins, M., Simola, K. O. J., Raas-Rothschild, A., Hennekam, R. C. M., Jabs, E. W.
<strong>Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome.</strong>
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[PubMed: 19574259]
[Full Text: https://doi.org/10.1136/jmg.2009.068395]
</p>
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Vega, H., Waisfisz, Q., Gordillo, M., Sakai, N., Yanagihara, I., Yamada, M., van Gosliga, D., Kayserili, H., Xu, C., Ozono, K., Jabs, E. W., Inui, K., Joenje, H.
<strong>Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion.</strong>
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[PubMed: 15821733]
[Full Text: https://doi.org/10.1038/ng1548]
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Virchow, R.
<strong>Die Phokomelen und das Barenweib.</strong>
Verh. Berl. Gesell. Anthrop. 30: 55-61, 1898.
</p>
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<p class="mim-text-font">
Waldenmaier, C., Aldenhoff, P., Klemm, T.
<strong>Roberts&#x27; syndrome.</strong>
Hum. Genet. 40: 345-349, 1978.
[PubMed: 631853]
[Full Text: https://doi.org/10.1007/BF00272196]
</p>
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<p class="mim-text-font">
Zergollern, L., Hitrec, V.
<strong>Three siblings with Robert&#x27;s syndrome.</strong>
Clin. Genet. 9: 433-436, 1976.
[PubMed: 177235]
[Full Text: https://doi.org/10.1111/j.1399-0004.1976.tb02273.x]
</p>
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<li>
<p class="mim-text-font">
Zergollern, L., Hitrec, V.
<strong>Four siblings with Robert&#x27;s syndrome.</strong>
Clin. Genet. 21: 1-6, 1982.
[PubMed: 7067161]
[Full Text: https://doi.org/10.1111/j.1399-0004.1982.tb02071.x]
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