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Entry
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- #225500 - ELLIS-VAN CREVELD SYNDROME; EVC
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- OMIM
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<p>
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<span class="h4">#225500</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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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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<li role="presentation">
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<a href="/clinicalSynopsis/225500"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS208500"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#populationGenetics">Population Genetics</a>
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<a href="#mapping">Mapping</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#history">History</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#nomenclature">Nomenclature</a>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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</li>
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<li role="presentation">
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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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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div><a href="https://clinicaltrials.gov/search?cond=ELLIS-VAN CREVELD SYNDROME" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=287&Typ=Pat" class="mim-tip-hint" title="A list of European laboratories that offer genetic testing." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">EuroGentest</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK596643/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
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<div><a href="https://www.diseaseinfosearch.org/x/2501" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/ellis-van-creveld-syndrome" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=225500[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=289" class="mim-tip-hint" title="European reference portal for information on rare diseases and orphan drugs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">OrphaNet</a></div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/44cb1ef1-1ef8-4dee-8b6e-2340874a0877/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:12714" 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>
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<div><a href="http://www.informatics.jax.org/disease/225500" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://omia.org/OMIA002540/" 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>
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<div><a href="https://wormbase.org/resources/disease/DOID:12714" 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>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:225500" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 62501005<br />
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<strong>ICD10CM:</strong> Q77.6<br />
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<strong>ICD9CM:</strong> 756.55<br />
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<strong>ORPHA:</strong> 289<br />
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<strong>DO:</strong> 12714<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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225500
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</span>
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</span>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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ELLIS-VAN CREVELD SYNDROME; EVC
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</h3>
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</div>
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<div>
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<br />
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</p>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
CHONDROECTODERMAL DYSPLASIA<br />
|
|
MESOECTODERMAL DYSPLASIA
|
|
</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/4/65?start=-3&limit=10&highlight=65">
|
|
4p16.2
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Ellis-van Creveld syndrome
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/225500"> 225500 </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">
|
|
EVC2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607261"> 607261 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/4/66?start=-3&limit=10&highlight=66">
|
|
4p16.2
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Ellis-van Creveld syndrome
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/225500"> 225500 </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">
|
|
EVC
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604831"> 604831 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/225500" 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>
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS208500" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<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/225500" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/225500" 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">
|
|
|
|
- Short-limb dwarfism identifiable at birth <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850171&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850171</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008921" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008921</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008921" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008921</a>]</span><br /> -
|
|
Average adult height, 109 to 152 cm <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856995&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856995</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">
|
|
|
|
- Normocephaly <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1855201&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1855201</a>]</span><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">
|
|
|
|
- Normal with exception of upper-lip defect <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856996&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856996</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">
|
|
|
|
- Partial cleft lip <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673628&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673628</a>]</span><br /> -
|
|
Defect in alveolar ridge <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/235013007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">235013007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0341007&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0341007</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006477" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006477</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006477" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006477</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Teeth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Neonatal teeth <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/58748004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">58748004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1162501001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1162501001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/21995002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">21995002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K00.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K00.6</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027443&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027443</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000695" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000695</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000695" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000695</a>]</span><br /> -
|
|
Hypodontia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/64969001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">64969001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K00.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K00.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020608&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020608</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000668" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000668</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000668" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000668</a>]</span><br /> -
|
|
Delayed eruption <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/5639000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">5639000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239174&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239174</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000684" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000684</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000684" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000684</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 /> -
|
|
Single atrium <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253276007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253276007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q21.19" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q21.19</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0392482&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0392482</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011565" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011565</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011565" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011565</a>]</span><br /> -
|
|
Other congenital heart defects <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857007&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857007</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
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|
|
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|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CHEST </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> External Features </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Narrow chest <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249671009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249671009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0426790&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426790</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000774" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000774</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000774" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000774</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ribs Sternum Clavicles & Scapulae </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Pectus carinatum <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/205101001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">205101001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/38774000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">38774000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/754.82" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.82</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2939416&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2939416</a>, <a href="https://bioportal.bioontology.org/search?q=C0158731&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158731</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000768" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000768</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000768" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000768</a>]</span><br /> -
|
|
Short, poorly developed ribs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856993&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856993</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">
|
|
|
|
- Epispadias <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/406477003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">406477003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/406476007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">406476007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q64.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q64.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/752.62" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">752.62</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0014588&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0014588</a>, <a href="https://bioportal.bioontology.org/search?q=C0563449&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0563449</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000039" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000039</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000039" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000039</a>]</span><br /> -
|
|
Hypospadias <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204888000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204888000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/416010008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">416010008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q54.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q54.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q54.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q54.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q54" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q54</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/752.61" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">752.61</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0848558&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0848558</a>, <a href="https://bioportal.bioontology.org/search?q=C1691215&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1691215</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003244" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003244</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000047" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000047</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000047" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000047</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> 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>
|
|
|
|
|
|
|
|
|
|
<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> Pelvis </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Low iliac wings <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856999&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856999</a>]</span><br /> -
|
|
Spur-like projections at the medial and lateral aspect of acetabula <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4478251&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4478251</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">
|
|
|
|
- Centrifugal shortening of limbs <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857001&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857001</a>]</span><br /> -
|
|
Fusion of capitate and hamate <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857002&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857002</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001241" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001241</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001241" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001241</a>]</span><br /> -
|
|
Genu valgum <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/299330008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">299330008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/52012001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">52012001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M21.06" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M21.06</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/736.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">736.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0158484&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158484</a>, <a href="https://bioportal.bioontology.org/search?q=C0576093&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0576093</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002857" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002857</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002857" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002857</a>]</span><br /> -
|
|
Short, thickened tubular bones <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857003&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857003</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">
|
|
|
|
- Difficulty forming a fist <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857004&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857004</a>]</span><br /> -
|
|
Postaxial polydactyly <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0220697&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0220697</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100259" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100259</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100259" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100259</a>]</span><br /> -
|
|
Cone-shaped epiphyses of phalanges 2 to 5 <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857005&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857005</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006035" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006035</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006035" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006035</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">
|
|
|
|
- Talipes equinovarus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/397932003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">397932003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1156475005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1156475005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.89" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.89</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/754.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009081&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009081</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001762" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001762</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001762" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001762</a>]</span><br /> -
|
|
Postaxial polydactyly <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0220697&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0220697</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100259" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100259</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100259" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100259</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> Nails </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Nail dysplasia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3279947&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3279947</a>, <a href="https://bioportal.bioontology.org/search?q=C1834405&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1834405</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002164" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002164</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002164" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002164</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 (some) <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 /> -
|
|
Dandy-Walker malformation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/14447001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">14447001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q03.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q03.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0010964&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0010964</a>, <a href="https://bioportal.bioontology.org/search?q=C2931867&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2931867</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001305" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001305</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001305" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001305</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Increased frequency in eastern Pennsylvania Amish<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the EVC gene (EVC, <a href="/entry/604831#0001">604831.0001</a>)<br /> -
|
|
Caused by mutation in the EVC2 (limbin) gene (EVC2, <a href="/entry/607231#0001">607231.0001</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Short-rib thoracic dysplasia
|
|
- <a href="/phenotypicSeries/PS208500">PS208500</a>
|
|
- 23 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/71?start=-3&limit=10&highlight=71"> 2p24.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614091"> Short-rib thoracic dysplasia 7 with or without polydactyly </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">
|
|
<a href="/entry/614091"> 614091 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613602"> WDR35 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613602"> 613602 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/139?start=-3&limit=10&highlight=139"> 2p23.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615630"> Short-rib thoracic dysplasia 10 with or without polydactyly </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">
|
|
<a href="/entry/615630"> 615630 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607386"> IFT172 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607386"> 607386 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/217?start=-3&limit=10&highlight=217"> 2p21 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617088"> Short-rib thoracic dysplasia 15 with polydactyly </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">
|
|
<a href="/entry/617088"> 617088 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617083"> DYNC2LI1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617083"> 617083 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/739?start=-3&limit=10&highlight=739"> 2q24.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613819"> Short-rib thoracic dysplasia 4 with or without polydactyly </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">
|
|
<a href="/entry/613819"> 613819 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612014"> TTC21B </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612014"> 612014 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/823?start=-3&limit=10&highlight=823"> 3q25.33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611263"> Short-rib thoracic dysplasia 2 with or without polydactyly </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">
|
|
<a href="/entry/611263"> 611263 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611177"> IFT80 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/611177"> 611177 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/3/994?start=-3&limit=10&highlight=994"> 3q29 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617405"> Short-rib thoracic dysplasia 17 with or without polydactyly </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">
|
|
<a href="/entry/617405"> 617405 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617353"> DYNLT2B </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617353"> 617353 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/65?start=-3&limit=10&highlight=65"> 4p16.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/225500"> Ellis-van Creveld syndrome </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">
|
|
<a href="/entry/225500"> 225500 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607261"> EVC2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607261"> 607261 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/66?start=-3&limit=10&highlight=66"> 4p16.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/225500"> Ellis-van Creveld syndrome </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">
|
|
<a href="/entry/225500"> 225500 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604831"> EVC </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604831"> 604831 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/157?start=-3&limit=10&highlight=157"> 4p14 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/614376"> Short-rib thoracic dysplasia 5 with or without polydactyly </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">
|
|
<a href="/entry/614376"> 614376 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608151"> WDR19 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/608151"> 608151 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/544?start=-3&limit=10&highlight=544"> 4q28.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617925"> ?Short-rib thoracic dysplasia 20 with polydactyly </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">
|
|
<a href="/entry/617925"> 617925 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610621"> INTU </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/610621"> 610621 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/4/666?start=-3&limit=10&highlight=666"> 4q33 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/263520"> Short-rib thoracic dysplasia 6 with or without polydactyly </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>, <abbr class="mim-tip-hint" title="Digenic recessive">DR</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">
|
|
<a href="/entry/263520"> 263520 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604588"> NEK1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/604588"> 604588 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/402?start=-3&limit=10&highlight=402"> 5q23.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/616300"> Short-rib thoracic dysplasia 13 with or without polydactyly </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">
|
|
<a href="/entry/616300"> 616300 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613446"> CEP120 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613446"> 613446 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/866?start=-3&limit=10&highlight=866"> 7q36.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615503"> Short-rib thoracic dysplasia 8 with or without polydactyly </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">
|
|
<a href="/entry/615503"> 615503 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615462"> WDR60 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615462"> 615462 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/549?start=-3&limit=10&highlight=549"> 9q34.11 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615633"> Short-rib thoracic dysplasia 11 with or without polydactyly </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">
|
|
<a href="/entry/615633"> 615633 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613363"> WDR34 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613363"> 613363 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/876?start=-3&limit=10&highlight=876"> 11q22.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613091"> Short-rib thoracic dysplasia 3 with or without polydactyly </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>, <abbr class="mim-tip-hint" title="Digenic recessive">DR</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">
|
|
<a href="/entry/613091"> 613091 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603297"> DYNC2H1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/603297"> 603297 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/12/798?start=-3&limit=10&highlight=798"> 12q24.11 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/617895"> Short-rib thoracic dysplasia 19 with or without polydactyly </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">
|
|
<a href="/entry/617895"> 617895 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605489"> IFT81 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605489"> 605489 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/14/276?start=-3&limit=10&highlight=276"> 14q23.1 </a>
|
|
|
|
</span>
|
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</td>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<p>A number sign (#) is used with this entry because Ellis-van Creveld syndrome (EVC) is caused by homozygous or compound heterozygous mutation in the EVC gene (<a href="/entry/604831">604831</a>) on chromosome 4p16.</p><p>Ellis-van Creveld syndrome can also be caused by mutation in a nonhomologous gene, EVC2 (<a href="/entry/607261">607261</a>), located close to the EVC gene in a head-to-head configuration.</p><p>Mutations in the EVC and EVC2 genes also cause Weyers acrofacial dysostosis (WAD; <a href="/entry/193530">193530</a>), an allelic disorder showing autosomal dominant inheritance.</p>
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<p>Ellis-van Creveld syndrome is an autosomal recessive skeletal dysplasia characterized by short limbs, short ribs, postaxial polydactyly, and dysplastic nails and teeth. Congenital cardiac defects, most commonly a defect of primary atrial septation producing a common atrium, occur in 60% of affected individuals (summary by <a href="#34" class="mim-tip-reference" title="Ruiz-Perez, V. L., Ide, S. E., Strom, T. M., Lorenz, B., Wilson, D., Woods, K., King, L., Francomano, C., Freisinger, P., Spranger, S., Marino, B., Dallapiccola, B., Wright, M., Meitinger, T., Polymeropoulos, M. H., Goodship, J. <strong>Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.</strong> Nature Genet. 24: 283-286, 2000. Note: Erratum: Nature Genet. 25: 125 only, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10700184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10700184</a>] [<a href="https://doi.org/10.1038/73508" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10700184">Ruiz-Perez et al., 2000</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10700184" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The clinical features of the Ellis-van Creveld syndrome appear to be identical regardless of whether the disorder is caused by mutation in the EVC gene (<a href="/entry/604831">604831</a>) or in the EVC2 gene (<a href="/entry/607261">607261</a>) (<a href="#35" class="mim-tip-reference" title="Ruiz-Perez, V. L., Tompson, S. W. J., Blair, H. J., Espinoza-Valdez, C., Lapunzina, P., Silva, E. O., Hamel, B., Gibbs, J. L., Young, I. D., Wright, M. J., Goodship, J. A. <strong>Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome.</strong> Am. J. Hum. Genet. 72: 728-732, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12571802/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12571802</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12571802[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/368063" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12571802">Ruiz-Perez et al., 2003</a>, <a href="#17" class="mim-tip-reference" title="Galdzicka, M., Patnala, S., Hirshman, M. G., Cai, J.-F., Nitowsky, H., Egeland, J. A., Ginns, E. I. <strong>A new gene, EVC2, is mutated in Ellis-van Creveld syndrome.</strong> Molec. Genet. Metab. 77: 291-295, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12468274/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12468274</a>] [<a href="https://doi.org/10.1016/s1096-7192(02)00178-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12468274">Galdzicka et al., 2002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12468274+12571802" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The largest pedigree with EVC was that observed by <a href="#26" class="mim-tip-reference" title="McKusick, V. A., Egeland, J. A., Eldridge, R., Krusen, D. E. <strong>Dwarfism in the Amish. I. The Ellis-van Creveld syndrome.</strong> Bull. Johns Hopkins Hosp. 115: 306-336, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14217223/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14217223</a>]" pmid="14217223">McKusick et al. (1964)</a> in an inbred religious isolate, the Old Order Amish, in Lancaster County, Pennsylvania. Almost as many persons were known in this one kindred as had been reported in all the medical literature up to that time. Features are dwarfism with most striking shortening in the distal part of the extremities, polydactyly, fusion of the hamate and capitate bones of the wrist, dystrophy of the fingernails, change in the upper lip variously called 'partial hare-lip,' 'lip-tie,' etc., and cardiac malformation, usually a septal defect and often single atrium. Teeth may already be erupted at birth ('natal teeth;' <a href="/entry/187050">187050</a>) and exfoliate prematurely. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14217223" 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>From observations in the large Amish kindred, <a href="#26" class="mim-tip-reference" title="McKusick, V. A., Egeland, J. A., Eldridge, R., Krusen, D. E. <strong>Dwarfism in the Amish. I. The Ellis-van Creveld syndrome.</strong> Bull. Johns Hopkins Hosp. 115: 306-336, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14217223/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14217223</a>]" pmid="14217223">McKusick et al. (1964)</a> concluded that there are no heterozygous manifestations of EVC. However, <a href="#16" class="mim-tip-reference" title="Fryns, J.-P. <strong>Postaxial polydactyly as heterozygote manifestation in Ellis-van Creveld syndrome? (Letter)</strong> Am. J. Med. Genet. 39: 500 only, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1877634/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1877634</a>] [<a href="https://doi.org/10.1002/ajmg.1320390430" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1877634">Fryns (1991)</a> noted the occurrence of unilateral postaxial polydactyly type A (complete extra finger and extra metacarpal) in one parent and one otherwise normal brother of 2 unrelated newborn infants with EVC. <a href="#18" class="mim-tip-reference" title="Goldblatt, J., Minutillo, C., Pemberton, P. J., Hurst, J. <strong>Ellis-van Creveld syndrome in a Western Australian Aboriginal community: postaxial polydactyly as a heterozygous manifestation?</strong> Med. J. Aust. 157: 271-272, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1435447/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1435447</a>]" pmid="1435447">Goldblatt et al. (1992)</a> described EVC in a Western Australian Aboriginal community in which 2 relatives were observed to have isolated postaxial polydactyly of the feet. They advanced this as evidence of heterozygous manifestation. In the 2 families reported by <a href="#18" class="mim-tip-reference" title="Goldblatt, J., Minutillo, C., Pemberton, P. J., Hurst, J. <strong>Ellis-van Creveld syndrome in a Western Australian Aboriginal community: postaxial polydactyly as a heterozygous manifestation?</strong> Med. J. Aust. 157: 271-272, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1435447/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1435447</a>]" pmid="1435447">Goldblatt et al. (1992)</a>, each with 1 case of EVC, the postaxial polydactyly of the feet occurred in a first cousin and a first cousin once removed of the proband in 1 family only. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1877634+14217223+1435447" 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="#13" class="mim-tip-reference" title="Engle, M. A., Ehlers, K. H. <strong>Ellis-van Creveld syndrome with asymmetric polydactyly and successful surgical correction of common atrium.</strong> Birth Defects Orig. Art. Ser. V(4): 65-67, 1969."None>Engle and Ehlers (1969)</a> described a case of EVC syndrome with unilateral polydactyly. The left hand and the right foot had an extra digit. A second child with EVC had been born in this family; polydactyly of the hands was bilateral (<a href="#14" class="mim-tip-reference" title="Engle, M. A. <strong>Personal Communication.</strong> New York, N. Y. 1976."None>Engle, 1976</a>).</p><p><a href="#3" class="mim-tip-reference" title="Blackburn, M. G., Belliveau, R. E. <strong>Ellis-van Creveld syndrome: a report of previously undescribed anomalies in two siblings.</strong> Am. J. Dis. Child. 122: 267-270, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5568596/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5568596</a>]" pmid="5568596">Blackburn and Belliveau (1971)</a> reported 2 sibs EVC with single atrium and hypoplastic left heart syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5568596" 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="#30" class="mim-tip-reference" title="Onat, T. <strong>Post-axial hexodactyly and single atrium: a new syndrome?</strong> Hum. Genet. 94: 104-106, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8034288/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8034288</a>] [<a href="https://doi.org/10.1007/BF02272854" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8034288">Onat (1994)</a> described a patient with single atrium and postaxial hexodactyly. Since the patient had no additional anomalies, all known syndromes, including the EVC combination of malformations, were excluded and it was proposed that the association represented a previously undescribed syndrome. <a href="#8" class="mim-tip-reference" title="Digilio, M. C., Marino, B., Giannotti, A., Dallapiccola, B. <strong>Single atrium, atrioventricular canal/postaxial hexodactyly indicating Ellis-van Creveld syndrome.</strong> Hum. Genet. 96: 251-253, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7635486/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7635486</a>] [<a href="https://doi.org/10.1007/BF00207395" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7635486">Digilio et al. (1995)</a> described 2 children with this combination and referred to 2 children previously reported in an abstract. They raised the possibility that Ellis-van Creveld syndrome and single atrium/polydactyly syndrome may be related, possibly due to allelic mutations. The parents of one of the children reported by <a href="#8" class="mim-tip-reference" title="Digilio, M. C., Marino, B., Giannotti, A., Dallapiccola, B. <strong>Single atrium, atrioventricular canal/postaxial hexodactyly indicating Ellis-van Creveld syndrome.</strong> Hum. Genet. 96: 251-253, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7635486/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7635486</a>] [<a href="https://doi.org/10.1007/BF00207395" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7635486">Digilio et al. (1995)</a> were consanguineous, and the father, like the daughter, had postaxial polydactyly of the left hand and both feet, partial atrial ventricular canal with single atrium, and agenesis of the upper lateral incisors bilaterally with enamel abnormalities. His height was 165 cm. The father and daughter were later found to have a mutation in the EVC gene (<a href="/entry/604831#0005">604831.0005</a>) (<a href="#34" class="mim-tip-reference" title="Ruiz-Perez, V. L., Ide, S. E., Strom, T. M., Lorenz, B., Wilson, D., Woods, K., King, L., Francomano, C., Freisinger, P., Spranger, S., Marino, B., Dallapiccola, B., Wright, M., Meitinger, T., Polymeropoulos, M. H., Goodship, J. <strong>Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.</strong> Nature Genet. 24: 283-286, 2000. Note: Erratum: Nature Genet. 25: 125 only, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10700184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10700184</a>] [<a href="https://doi.org/10.1038/73508" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10700184">Ruiz-Perez et al., 2000</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8034288+7635486+10700184" 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="Spranger, S., Tariverdian, G. <strong>Symptomatic heterozygosity in the Ellis-van-Creveld syndrome?</strong> Clin. Genet. 47: 217-220, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7628126/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7628126</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1995.tb03963.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7628126">Spranger and Tariverdian (1995)</a> described a 13-month-old girl with apparently typical EVC whose 32-year-old father had some features that they suggested might be heterozygous manifestations. He had disproportionate short stature (162 cm). Polydactyly was not present either clinically or by x-ray examination. Hands and feet were broad and square with short fingers and toes. He could not make a tight fist. He had dysplastic finger- and toenails, which never needed to be cut and were quite typical of those of EVC. The teeth were conical in shape with side spaces. The father had previously been thought to have Weyers acrodental dysostosis. <a href="#38" class="mim-tip-reference" title="Spranger, S., Tariverdian, G. <strong>Symptomatic heterozygosity in the Ellis-van-Creveld syndrome?</strong> Clin. Genet. 47: 217-220, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7628126/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7628126</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1995.tb03963.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7628126">Spranger and Tariverdian (1995)</a> reviewed other reports of possible heterozygous manifestations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7628126" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#21" class="mim-tip-reference" title="Howard, T. D., Guttmacher, A. E., McKinnon, W., Sharma, M., McKusick, V. A., Jabs, E. W. <strong>Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus.</strong> Am. J. Hum. Genet. 61: 1405-1412, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9399901/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9399901</a>] [<a href="https://doi.org/10.1086/301643" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9399901">Howard et al. (1997)</a> studied a 4-generation family with features of Weyers acrofacial dysostosis in which the proband had a more severe phenotype, resembling Ellis-van Creveld syndrome. Weyers acrofacial dysostosis is an autosomal dominant condition with dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature. EVC is a similar condition, with autosomal recessive inheritance and the additional features of disproportionate dwarfism, thoracic dysplasia, and congenital heart disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9399901" 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="Mostafa, M. I., Temtamy, S. A., El-Gammal, M. A., Mazen, I. M. <strong>Unusual pattern of inheritance and orodental changes in the Ellis-van Creveld syndrome.</strong> Genet. Counsel. 16: 75-83, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15844783/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15844783</a>]" pmid="15844783">Mostafa et al. (2005)</a> reported 6 cases of EVC in 3 Egyptian families. All of the families were consanguineous. Father to son or daughter transmission was observed in 2 of the families, thus demonstrating pseudodominant inheritance. None of the presumed heterozygotes in these families exhibited abnormalities of the body, limbs, or orodental structures. Bifid tip of the tongue was found in all affected individuals. <a href="#28" class="mim-tip-reference" title="Mostafa, M. I., Temtamy, S. A., El-Gammal, M. A., Mazen, I. M. <strong>Unusual pattern of inheritance and orodental changes in the Ellis-van Creveld syndrome.</strong> Genet. Counsel. 16: 75-83, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15844783/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15844783</a>]" pmid="15844783">Mostafa et al. (2005)</a> suggested that midline orodental anomalies should be sought in cases of EVC and Weyers acrofacial dysostosis, and that their presence or absence might be a differentiating feature between the 2 disorders. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15844783" 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="#25" class="mim-tip-reference" title="Mahoney, M. J., Hobbins, J. C. <strong>Prenatal diagnosis of chondroectodermal dysplasia (Ellis-van Creveld syndrome) with fetoscopy and ultrasound.</strong> New Eng. J. Med. 297: 258-260, 1977.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/876300/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">876300</a>] [<a href="https://doi.org/10.1056/NEJM197708042970507" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="876300">Mahoney and Hobbins (1977)</a> proposed fetoscopy and ultrasound as methods of prenatal diagnosis. <a href="#32" class="mim-tip-reference" title="Qureshi, F., Jacques, S. M., Evans, M. I., Johnson, M. P., Isada, N. B., Yang, S. S. <strong>Skeletal histopathology in fetuses with chondroectodermal dysplasia (Ellis-van Creveld syndrome).</strong> Am. J. Med. Genet. 45: 471-476, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8465854/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8465854</a>] [<a href="https://doi.org/10.1002/ajmg.1320450416" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8465854">Qureshi et al. (1993)</a> described the skeletal histopathology in 3 fetuses with EVC. The diagnosis had been made in each of these cases on the basis of ultrasonography, and the pregnancies were terminated at 22 to 23 weeks. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=876300+8465854" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#5" class="mim-tip-reference" title="D'Asdia, M. C., Torrente, I., Consoli, F., Ferese, R., Magliozzi, M., Bernardini, L., Guida, V., Digilio, M. C., Marino, B., Dallapicolla, B., De Luca, A. <strong>Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dysostosis.</strong> Europ. J. Med. Genet. 56: 80-87, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23220543/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23220543</a>] [<a href="https://doi.org/10.1016/j.ejmg.2012.11.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23220543">D'Asdia et al. (2013)</a> stated that the incidence of Ellis-van Creveld syndrome is estimated at 1 in 60,000, whereas it is as high as 5 in 1000 in the Old Order Amish community of Lancaster County, Pa. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23220543" 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 studies of 9 interrelated Amish pedigrees and 2 unrelated families from Mexico and Ecuador, <a href="#15" class="mim-tip-reference" title="Francomano, C. A., Ortez deLuna, R. I., Ide, S. E., Pyeritz, R. E., Wright, M., Polymeropoulos, M. H. <strong>The gene for the Ellis-van Creveld syndrome maps to chromosome 4p16. (Abstract)</strong> Am. J. Hum. Genet. 57 (suppl.): A191 only, 1995."None>Francomano et al. (1995)</a> demonstrated linkage of the EVC gene to the distal short arm of chromosome 4 in an area proximal to the FGFR3 gene (<a href="/entry/134934">134934</a>), which is mutant in achondroplasia (<a href="/entry/100800">100800</a>) and hypochondroplasia (<a href="/entry/146000">146000</a>). The maximum lod score was 4.65 at theta = 0.05 for marker D4S431.</p><p><a href="#31" class="mim-tip-reference" title="Polymeropoulos, M. H., Ide, S. E., Wright, M., Goodship, J., Weissenbach, J., Pyeritz, R. E., Da Silva, E. O., Ortiz De Luna, R. I., Francomano, C. A. <strong>The gene for the Ellis-van Creveld syndrome is located on chromosome 4p16.</strong> Genomics 35: 1-5, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8661097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8661097</a>] [<a href="https://doi.org/10.1006/geno.1996.0315" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8661097">Polymeropoulos et al. (1996)</a> reported the results of linkage analysis in 9 interrelated Amish pedigrees and 3 unrelated families from Mexico, Ecuador, and Brazil. Their analysis revealed linkage of the Ellis-van Creveld phenotype to genetic markers on the short arm of chromosome 4p with no evidence of heterogeneity. <a href="#31" class="mim-tip-reference" title="Polymeropoulos, M. H., Ide, S. E., Wright, M., Goodship, J., Weissenbach, J., Pyeritz, R. E., Da Silva, E. O., Ortiz De Luna, R. I., Francomano, C. A. <strong>The gene for the Ellis-van Creveld syndrome is located on chromosome 4p16.</strong> Genomics 35: 1-5, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8661097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8661097</a>] [<a href="https://doi.org/10.1006/geno.1996.0315" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8661097">Polymeropoulos et al. (1996)</a> reported that multipoint analysis places the gene between D4S3007 and D4S431, whereas haplotype analysis sublocalizes the gene in the interval between D4S2957 and D4S827. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8661097" 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 linkage and haplotype analysis in a 4-generation family with features of Weyers acrofacial dysostosis in which the proband had a more severe phenotype resembling Ellis-van Creveld syndrome, <a href="#21" class="mim-tip-reference" title="Howard, T. D., Guttmacher, A. E., McKinnon, W., Sharma, M., McKusick, V. A., Jabs, E. W. <strong>Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus.</strong> Am. J. Hum. Genet. 61: 1405-1412, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9399901/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9399901</a>] [<a href="https://doi.org/10.1086/301643" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9399901">Howard et al. (1997)</a> determined that the disease locus resided on 4p16, distal to the genetic marker D4S3007 and within a 17-cM region flanking the genetic locus D4S2366. This region includes the EVC locus, which had previously been mapped within a 3-cM region between genetic markers D4S2957 and D4S827. The authors concluded that either the genes for the condition in the family of <a href="#21" class="mim-tip-reference" title="Howard, T. D., Guttmacher, A. E., McKinnon, W., Sharma, M., McKusick, V. A., Jabs, E. W. <strong>Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus.</strong> Am. J. Hum. Genet. 61: 1405-1412, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9399901/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9399901</a>] [<a href="https://doi.org/10.1086/301643" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9399901">Howard et al. (1997)</a> and for EVC are near one another or these 2 conditions are allelic. The data also raised the possibility that Weyers acrofacial dysostosis is a heterozygous expression of the mutation that, in homozygous form, causes the autosomal recessive disorder EVC. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9399901" 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>Exclusion Studies</em></strong></p><p>
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<a href="#31" class="mim-tip-reference" title="Polymeropoulos, M. H., Ide, S. E., Wright, M., Goodship, J., Weissenbach, J., Pyeritz, R. E., Da Silva, E. O., Ortiz De Luna, R. I., Francomano, C. A. <strong>The gene for the Ellis-van Creveld syndrome is located on chromosome 4p16.</strong> Genomics 35: 1-5, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8661097/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8661097</a>] [<a href="https://doi.org/10.1006/geno.1996.0315" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8661097">Polymeropoulos et al. (1996)</a> suggested that the HMX1 gene (<a href="/entry/142992">142992</a>) is most likely located in the 12-cM interval between D4S394 and D4S2362, excluding it as a candidate gene for Ellis-van Creveld syndrome. <a href="#23" class="mim-tip-reference" title="Ide, S. E., Ortiz De Luna, R. I., Francomano, C. A., Polymeropoulos, M. H. <strong>Exclusion of the MSX1 homeobox gene as the gene for the Ellis van Creveld syndrome in the Amish.</strong> Hum. Genet. 98: 572-575, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8882877/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8882877</a>] [<a href="https://doi.org/10.1007/s004390050261" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8882877">Ide et al. (1996)</a> excluded the MSX1 gene (<a href="/entry/142983">142983</a>) as a candidate gene for this disorder in the Amish. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8661097+8882877" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of Ellis-van Creveld syndrome in the families reported by <a href="#34" class="mim-tip-reference" title="Ruiz-Perez, V. L., Ide, S. E., Strom, T. M., Lorenz, B., Wilson, D., Woods, K., King, L., Francomano, C., Freisinger, P., Spranger, S., Marino, B., Dallapiccola, B., Wright, M., Meitinger, T., Polymeropoulos, M. H., Goodship, J. <strong>Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.</strong> Nature Genet. 24: 283-286, 2000. Note: Erratum: Nature Genet. 25: 125 only, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10700184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10700184</a>] [<a href="https://doi.org/10.1038/73508" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10700184">Ruiz-Perez et al. (2000)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10700184" 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>By positional cloning, <a href="#34" class="mim-tip-reference" title="Ruiz-Perez, V. L., Ide, S. E., Strom, T. M., Lorenz, B., Wilson, D., Woods, K., King, L., Francomano, C., Freisinger, P., Spranger, S., Marino, B., Dallapiccola, B., Wright, M., Meitinger, T., Polymeropoulos, M. H., Goodship, J. <strong>Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.</strong> Nature Genet. 24: 283-286, 2000. Note: Erratum: Nature Genet. 25: 125 only, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10700184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10700184</a>] [<a href="https://doi.org/10.1038/73508" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10700184">Ruiz-Perez et al. (2000)</a> identified a novel gene, EVC (<a href="/entry/604831">604831</a>), that is mutated in individuals with Ellis-van Creveld syndrome. They identified a splice-donor change in an Amish pedigree (<a href="/entry/604831#0001">604831.0001</a>), and 6 truncating mutations and a single amino acid deletion in 7 pedigrees (see, e.g., <a href="/entry/604831#0002">604831.0002</a>-<a href="/entry/604831#0004">604831.0004</a>). The heterozygous carriers of these mutations did not manifest features of EVC. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10700184" 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="Ruiz-Perez, V. L., Ide, S. E., Strom, T. M., Lorenz, B., Wilson, D., Woods, K., King, L., Francomano, C., Freisinger, P., Spranger, S., Marino, B., Dallapiccola, B., Wright, M., Meitinger, T., Polymeropoulos, M. H., Goodship, J. <strong>Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.</strong> Nature Genet. 24: 283-286, 2000. Note: Erratum: Nature Genet. 25: 125 only, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10700184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10700184</a>] [<a href="https://doi.org/10.1038/73508" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10700184">Ruiz-Perez et al. (2000)</a> found 2 heterozygous missense mutations associated with a phenotype, one in a man with Weyers acrodental dysostosis (<a href="/entry/604831#0006">604831.0006</a>) and another in a father and his daughter, who both had the heart defect characteristic of EVC and polydactyly, but not short stature (<a href="/entry/604831#0005">604831.0005</a>). <a href="#34" class="mim-tip-reference" title="Ruiz-Perez, V. L., Ide, S. E., Strom, T. M., Lorenz, B., Wilson, D., Woods, K., King, L., Francomano, C., Freisinger, P., Spranger, S., Marino, B., Dallapiccola, B., Wright, M., Meitinger, T., Polymeropoulos, M. H., Goodship, J. <strong>Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.</strong> Nature Genet. 24: 283-286, 2000. Note: Erratum: Nature Genet. 25: 125 only, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10700184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10700184</a>] [<a href="https://doi.org/10.1038/73508" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10700184">Ruiz-Perez et al. (2000)</a> suggested that EVC and Weyers acrodental dysostosis are allelic conditions. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10700184" 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 patient with Ellis-van Creveld syndrome of Ashkenazi Jewish origin, <a href="#17" class="mim-tip-reference" title="Galdzicka, M., Patnala, S., Hirshman, M. G., Cai, J.-F., Nitowsky, H., Egeland, J. A., Ginns, E. I. <strong>A new gene, EVC2, is mutated in Ellis-van Creveld syndrome.</strong> Molec. Genet. Metab. 77: 291-295, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12468274/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12468274</a>] [<a href="https://doi.org/10.1016/s1096-7192(02)00178-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12468274">Galdzicka et al. (2002)</a> identified 2 homozygous mutations in the EVC2 gene; see <a href="/entry/607261#0007">607261.0007</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12468274" 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 patient with Ellis-van Creveld syndrome in a consanguineous Gypsy pedigree, <a href="#35" class="mim-tip-reference" title="Ruiz-Perez, V. L., Tompson, S. W. J., Blair, H. J., Espinoza-Valdez, C., Lapunzina, P., Silva, E. O., Hamel, B., Gibbs, J. L., Young, I. D., Wright, M. J., Goodship, J. A. <strong>Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome.</strong> Am. J. Hum. Genet. 72: 728-732, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12571802/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12571802</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12571802[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/368063" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12571802">Ruiz-Perez et al. (2003)</a> identified a frameshift mutation in the EVC2 gene (<a href="/entry/607261#0001">607261.0001</a>). They found 4 other truncating mutations and a missense change. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12571802" 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="#40" class="mim-tip-reference" title="Tompson, S. W. J., Ruiz-Perez, V. L., Blair, H. J., Barton, S., Navarro, V., Robson, J. L., Wright, M. J., Goodship, J. A. <strong>Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.</strong> Hum. Genet. 120: 663-670, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17024374/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17024374</a>] [<a href="https://doi.org/10.1007/s00439-006-0237-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17024374">Tompson et al. (2007)</a> analyzed the EVC and EVC2 genes in 65 unrelated individuals with EVC syndrome, 19 of whom came from consanguineous families. Mutations in the EVC gene were identified in 20 patients (17 homozygotes and 3 compound heterozygotes); mutations in the EVC2 gene were identified in 25 patients (17 homozygotes, 5 compound heterozygotes, and 3 in whom only 1 mutation was identified). The majority of the mutations introduced a premature termination codon. The authors noted that no mutations were found in either gene in 20 (31%) cases and suggested that there may be further genetic heterogeneity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17024374" 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 6-year-old Chinese girl with mild Ellis-van Creveld syndrome, <a href="#37" class="mim-tip-reference" title="Shen, W., Han, D., Zhang, J., Zhao, H., Feng, H. <strong>Two novel heterozygous mutations of EVC2 cause a mild phenotype of Ellis-van Creveld syndrome in a Chinese family.</strong> Am. J. Med. Genet. 155A: 2131-2136, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21815252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21815252</a>] [<a href="https://doi.org/10.1002/ajmg.a.34125" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21815252">Shen et al. (2011)</a> identified compound heterozygosity for a splice site and a missense mutation in the EVC2 gene (<a href="/entry/607621#0010">607621.0010</a>-<a href="/entry/607621#0011">607621.0011</a>). The patient had mild short stature, postaxial polydactyly, dysplastic nails, abnormal teeth, and genus valgum; features not present in this patient included short ribs, narrow thorax, or cardiac defects. Her unaffected parents were each heterozygous for 1 of the mutations; neither mutation was found in 200 control chromosomes. <a href="#37" class="mim-tip-reference" title="Shen, W., Han, D., Zhang, J., Zhao, H., Feng, H. <strong>Two novel heterozygous mutations of EVC2 cause a mild phenotype of Ellis-van Creveld syndrome in a Chinese family.</strong> Am. J. Med. Genet. 155A: 2131-2136, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21815252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21815252</a>] [<a href="https://doi.org/10.1002/ajmg.a.34125" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21815252">Shen et al. (2011)</a> noted that all 3 Weyers acrofacial dysostosis-associated mutations reported to date were located in exon 22 of EVC2, whereas this patient's mutations were in IVS5 and exon 15. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21815252" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The disorder that now goes by the name of Ellis-van Creveld syndrome was described by Richard W. B. Ellis (1902-1966) of Edinburgh and Simon van Creveld (1895-1971) of Amsterdam. Each had a patient with this syndrome, as they had discovered when they met in the same train compartment on the way to a pediatrics conference in England in the late 1930s. A third patient had been referred to by L. Emmett Holt, Jr. and Rustin McIntosh in a textbook of pediatrics (<a href="#20" class="mim-tip-reference" title="Holt, L. E., Jr., McIntosh, R. <strong>Holt's Diseases of Infancy and Childhood: A Textbook for the Use of Students and Practitioners. (10th ed.)</strong> New York: Appleton and Co. (pub.) 1933. P. 362."None>Holt and McIntosh, 1933</a>) and was included in full in the paper by <a href="#12" class="mim-tip-reference" title="Ellis, R. W. B., van Creveld, S. <strong>A syndrome characterized by ectodermal dysplasia, polydactyly, chondro-dysplasia and congenital morbus cordis: report of three cases.</strong> Arch. Dis. Child. 15: 65-84, 1940.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21032169/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21032169</a>] [<a href="https://doi.org/10.1136/adc.15.82.65" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21032169">Ellis and van Creveld (1940)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21032169" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#27" class="mim-tip-reference" title="McKusick, V. A. <strong>Ellis-van Creveld syndrome and the Amish.</strong> Nature Genet. 24: 203-204, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10700162/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10700162</a>] [<a href="https://doi.org/10.1038/73389" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10700162">McKusick (2000)</a> provided perspective on the classic study of dwarfism, including Ellis-van Creveld syndrome, in the Lancaster County Amish. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10700162" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Christian, J. C., Dexter, R. N., Palmer, C. G., Muller, J. <strong>A family with three recessive traits and homozygosity for a long 9qh+ chromosome segment.</strong> Am. J. Med. Genet. 6: 301-308, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6938130/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6938130</a>] [<a href="https://doi.org/10.1002/ajmg.1320060407" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6938130">Christian et al. (1980)</a> reported the unusual case of an infant with both Ellis-van Creveld and Dandy-Walker syndromes and with homozygosity for an unusually long heterochromatic segment of the long arm of chromosome 9 (9qh+). The 18-year-old mother was mentally retarded, the product of a first-cousin mating, and less than 4 feet tall. Although thelarche and menarche occurred on schedule, she developed no pubic or axillary hair. The authors suggested that she may have had a previously unknown recessive disorder. The mating that resulted in the offspring with EVC and Dandy-Walker syndromes was presumably incestuous. Her father and 2 of her brothers, like the 18-year-old mother, had the 9qh+. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6938130" 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="Zangwill, K. M., Boal, D. K. B., Ladda, R. L. <strong>Dandy-Walker malformation in Ellis-van Creveld syndrome.</strong> Am. J. Med. Genet. 31: 123-129, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3223493/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3223493</a>] [<a href="https://doi.org/10.1002/ajmg.1320310114" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3223493">Zangwill et al. (1988)</a> described hydrocephalus and the Dandy-Walker anomaly in EVC. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3223493" 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="#33" class="mim-tip-reference" title="Rosemberg, S., Carneiro, P. C., Zerbini, M. C. N., Gonzalez, C. H. <strong>Chondroectodermal dysplasia (Ellis-van Creveld) with anomalies of CNS and urinary tract.</strong> Am. J. Med. Genet. 15: 291-295, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6881201/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6881201</a>] [<a href="https://doi.org/10.1002/ajmg.1320150212" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6881201">Rosemberg et al. (1983)</a> reported the fatal case of a 19-month-old daughter of consanguineous parents who in addition to cardiac defects, including single atrium, had cerebral heteropias, left renal agenesis, and right megaureter. <a href="#36" class="mim-tip-reference" title="Serotkin, A., Stamberg, J., Waber, L. <strong>Duplication 17q mosaicism: an infant with features of Ellis-van Creveld syndrome.</strong> J. Med. Genet. 25: 258-269, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3367352/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3367352</a>] [<a href="https://doi.org/10.1136/jmg.25.4.258" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3367352">Serotkin et al. (1988)</a> found features suggesting EVC in an infant who was mosaic for duplication 17q21.1-qter, owing to a direct tandem duplication. The child had bilateral polydactyly of the feet but not of the hands, dysplastic nails, and lip-tie. His gums had scalloped edges, and 2 neonatal teeth were evident. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6881201+3367352" 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 an observation of the radiologic features characteristic of Jeune syndrome (<a href="/entry/208500">208500</a>) and EVC in a Japanese boy with a de novo del(12)(p11.21p12.2) chromosomal aberration, <a href="#29" class="mim-tip-reference" title="Nagai, T., Nishimura, G., Kato, R., Hasegawa, T., Ohashi, H., Fukushima, Y. <strong>Del(12)(p11.21p12.2) associated with an asphyxiating thoracic dystrophy or chondroectodermal dysplasia-like syndrome.</strong> Am. J. Med. Genet. 55: 16-18, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7702088/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7702088</a>] [<a href="https://doi.org/10.1002/ajmg.1320550106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7702088">Nagai et al. (1995)</a> suggested that the EVC locus is situated on 12p. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7702088" 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>EVC and McKusick-Kaufman (MKKS; <a href="/entry/236700">236700</a>) syndromes are clinically similar, recessively inherited disorders sharing postaxial polydactyly of the hands and feet and a distinct congenital heart defect. Distinguishing characteristics are the osteochondrodysplasia and ectodermal anomalies in EVC syndrome, and hydrometrocolpos in MKKS. Hydrometrocolpos had been described in the Ellis-van Creveld syndrome by <a href="#1" class="mim-tip-reference" title="Akoun, R., Bagard, M. <strong>La maladie d'Ellis-van Creveld.</strong> Algerie Med. 60: 769-772, 1956.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13381673/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13381673</a>]" pmid="13381673">Akoun and Bagard (1956)</a>. <a href="#9" class="mim-tip-reference" title="Digilio, M. C., Marino, B., Giannotti, A., Dallapiccola, B. <strong>Atrioventricular canal defect and postaxial polydactyly indicating phenotypic overlap of Ellis-van Creveld and Kaufman-McKusick syndromes. (Letter)</strong> Pediat. Cardiol. 18: 74-75, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8960501/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8960501</a>] [<a href="https://doi.org/10.1007/s002469900116" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8960501">Digilio et al. (1997)</a> studied 2 sisters presenting with apparent EVC, 1 of whom also had hydrometrocolpos. <a href="#7" class="mim-tip-reference" title="Digilio, M. C., Giannotti, A., Torrente, I., Dallapiccola, B., Goodship, J. A., Marino, B., Novelli, G. <strong>Ellis-van Creveld syndrome with hydrometrocolpos is not linked to chromosome arm 4p or 20p. (Letter)</strong> Am. J. Med. Genet. 126A: 319-323, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15054850/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15054850</a>] [<a href="https://doi.org/10.1002/ajmg.a.20237" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15054850">Digilio et al. (2004)</a> restudied the sisters and excluded linkage to either 4p (where EVC maps) or 20p (where MKKS maps). The sisters were later found to have short-rib thoracic dysplasia-15 with polydactyly (SRTD15; <a href="/entry/617088">617088</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13381673+8960501+15054850" 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>'Six-fingered dwarfism' was an alternative designation used for this condition when it was being studied in the Amish (<a href="#26" class="mim-tip-reference" title="McKusick, V. A., Egeland, J. A., Eldridge, R., Krusen, D. E. <strong>Dwarfism in the Amish. I. The Ellis-van Creveld syndrome.</strong> Bull. Johns Hopkins Hosp. 115: 306-336, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14217223/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14217223</a>]" pmid="14217223">McKusick et al., 1964</a>) and may have served a useful function in defining this then little known condition for the medical profession, as well as the lay public. The term, however, has been found offensive by some, apparently not because of 'dwarfism,' but because of the reference to the polydactyly, which is seen as a 'freakish' labeling. For this reason, 6-fingered dwarfism has been removed as an alternative name for this entry. This leaves Ellis-van Creveld syndrome with its felicitous abbreviation, EVC, as the only satisfactory designation. Chondroectodermal dysplasia and mesoectodermal dysplasia do not well define the entity and are not satisfactory for general usage, either medical or lay. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14217223" 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="#Alvarez-Borja1960" class="mim-tip-reference" title="Alvarez-Borja, A. <strong>Ellis-van Creveld syndrome: report of two cases.</strong> Pediatrics 26: 301-309, 1960.">Alvarez-Borja (1960)</a>; <a href="#Da1980" class="mim-tip-reference" title="Da Silva, E. O., Janovitz, D., De Albuquerque, S. C. <strong>Ellis-van Creveld syndrome: report of 15 cases in an inbred kindred.</strong> J. Med. Genet. 17: 349-356, 1980.">Da Silva et al. (1980)</a>; <a href="#Donlan1969" class="mim-tip-reference" title="Donlan, M. A., Murphy, J. J., Brakel, C. A. <strong>Ellis-van Creveld syndrome associated with complete situs inversus.</strong> Clin. Pediat. 8: 366-368, 1969.">Donlan et al. (1969)</a>; <a href="#Douglas1959" class="mim-tip-reference" title="Douglas, W. F., Schonholtz, G. J., Geppert, L. J. <strong>Chondroectodermal dysplasia (Ellis-van Creveld syndrome).</strong> Am. J. Dis. Child. 97: 473-478, 1959.">Douglas et al. (1959)</a>; <a href="#Hirokawa1967" class="mim-tip-reference" title="Hirokawa, K., Suzuki, S. <strong>Ellis-van Creveld syndrome: report of an autopsy case.</strong> Acta Path. Jpn. 17: 139-143, 1967.">Hirokawa and Suzuki (1967)</a>; <a href="#Husson1961" class="mim-tip-reference" title="Husson, G. S., Parkman, P. <strong>Chondroectodermal dysplasia (Ellis-van Creveld syndrome) with a complex cardiac malformation.</strong> Pediatrics 28: 285-292, 1961.">Husson and Parkman
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(1961)</a>; <a href="#Leung1986" class="mim-tip-reference" title="Leung, A. K. C. <strong>Natal teeth.</strong> Am. J. Dis. Child. 140: 249-251, 1986.">Leung (1986)</a>; <a href="#Taylor1984" class="mim-tip-reference" title="Taylor, G. A., Jordan, C. E., Dorst, S. K., Dorst, J. P. <strong>Polycarpaly and other abnormalities of the wrist in chondroectodermal dysplasia: the Ellis-van Creveld syndrome.</strong> Radiology 151: 393-396, 1984.">Taylor et al. (1984)</a>; <a href="#Walls1959" class="mim-tip-reference" title="Walls, W. L., Altman, D. H., Winslow, O. P. <strong>Chondroectodermal dysplasia (Ellis-van Creveld syndrome): report of a case and review of the literature.</strong> Am. J. Dis. Child. 98: 242-248, 1959.">Walls et al. (1959)</a>
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Akoun, R., Bagard, M.
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<strong>La maladie d'Ellis-van Creveld.</strong>
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Algerie Med. 60: 769-772, 1956.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13381673/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13381673</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13381673" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Ellis-van Creveld syndrome: report of two cases.</strong>
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Pediatrics 26: 301-309, 1960.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13793041/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13793041</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13793041" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Ellis-van Creveld syndrome: a report of previously undescribed anomalies in two siblings.</strong>
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Am. J. Dis. Child. 122: 267-270, 1971.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5568596/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5568596</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5568596" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Christian, J. C., Dexter, R. N., Palmer, C. G., Muller, J.
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<strong>A family with three recessive traits and homozygosity for a long 9qh+ chromosome segment.</strong>
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Am. J. Med. Genet. 6: 301-308, 1980.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6938130/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6938130</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6938130" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320060407" target="_blank">Full Text</a>]
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D'Asdia, M. C., Torrente, I., Consoli, F., Ferese, R., Magliozzi, M., Bernardini, L., Guida, V., Digilio, M. C., Marino, B., Dallapicolla, B., De Luca, A.
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<strong>Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dysostosis.</strong>
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Europ. J. Med. Genet. 56: 80-87, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23220543/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23220543</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23220543" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ejmg.2012.11.005" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.17.5.349" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.20237" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF00207395" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/s002469900116" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1177/000992286900800613" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320390430" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s1096-7192(02)00178-6" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14217223/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14217223</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14217223" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/73389" target="_blank">Full Text</a>]
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<strong>Del(12)(p11.21p12.2) associated with an asphyxiating thoracic dystrophy or chondroectodermal dysplasia-like syndrome.</strong>
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[<a href="https://doi.org/10.1002/ajmg.1320550106" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF02272854" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1006/geno.1996.0315" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320450416" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320150212" target="_blank">Full Text</a>]
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<a id="Ruiz-Perez2000" class="mim-anchor"></a>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10700184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10700184</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10700184" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/73508" target="_blank">Full Text</a>]
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<a id="Ruiz-Perez2003" class="mim-anchor"></a>
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Ruiz-Perez, V. L., Tompson, S. W. J., Blair, H. J., Espinoza-Valdez, C., Lapunzina, P., Silva, E. O., Hamel, B., Gibbs, J. L., Young, I. D., Wright, M. J., Goodship, J. A.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12571802/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12571802</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12571802[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12571802" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.25.4.258" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.34125" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1399-0004.1995.tb03963.x" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6709909/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6709909</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6709909" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1148/radiology.151.2.6709909" target="_blank">Full Text</a>]
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<strong>Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17024374/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17024374</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17024374" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s00439-006-0237-7" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3223493/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3223493</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3223493" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320310114" target="_blank">Full Text</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 04/06/2018
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Marla J. F. O'Neill - updated : 9/30/2011<br>Marla J. F. O'Neill - updated : 8/24/2007<br>Marla J. F. O'Neill - updated : 4/20/2005<br>Victor A. McKusick - updated : 4/14/2004<br>Ada Hamosh - updated : 4/15/2003<br>Victor A. McKusick - updated : 2/26/2003<br>Victor A. McKusick - updated : 3/1/2000<br>Victor A. McKusick - updated : 2/29/2000<br>Victor A. McKusick - updated : 4/25/1998<br>Victor A. McKusick - updated : 2/16/1998<br>Moyra Smith - updated : 9/11/1996
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Creation Date:
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Victor A. McKusick : 6/3/1986
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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carol : 11/17/2022
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carol : 04/09/2018<br>carol : 04/06/2018<br>alopez : 05/01/2017<br>carol : 07/08/2016<br>carol : 6/24/2014<br>carol : 1/31/2014<br>carol : 1/31/2014<br>carol : 9/30/2011<br>terry : 9/30/2011<br>terry : 5/11/2010<br>wwang : 8/30/2007<br>terry : 8/24/2007<br>wwang : 5/22/2006<br>ckniffin : 5/16/2006<br>wwang : 4/28/2005<br>wwang : 4/26/2005<br>terry : 4/20/2005<br>tkritzer : 12/2/2004<br>terry : 12/1/2004<br>terry : 11/2/2004<br>alopez : 4/19/2004<br>terry : 4/14/2004<br>terry : 3/18/2004<br>alopez : 4/17/2003<br>terry : 4/15/2003<br>alopez : 2/27/2003<br>terry : 2/26/2003<br>mcapotos : 11/16/2000<br>carol : 8/17/2000<br>alopez : 5/9/2000<br>alopez : 4/18/2000<br>alopez : 4/14/2000<br>alopez : 3/1/2000<br>terry : 3/1/2000<br>terry : 2/29/2000<br>carol : 11/11/1999<br>carol : 11/11/1999<br>terry : 11/11/1999<br>terry : 11/11/1999<br>terry : 6/11/1999<br>carol : 5/1/1998<br>terry : 4/25/1998<br>terry : 2/27/1998<br>terry : 2/26/1998<br>terry : 2/26/1998<br>mark : 2/17/1998<br>terry : 2/16/1998<br>alopez : 7/29/1997<br>alopez : 7/29/1997<br>alopez : 7/9/1997<br>terry : 7/9/1997<br>mark : 7/3/1997<br>terry : 3/13/1997<br>mark : 9/11/1996<br>marlene : 9/5/1996<br>mark : 11/14/1995<br>terry : 9/11/1995<br>davew : 7/26/1994<br>jason : 6/16/1994<br>warfield : 4/15/1994<br>mimadm : 2/19/1994
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<strong>#</strong> 225500
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ELLIS-VAN CREVELD SYNDROME; EVC
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<em>Alternative titles; symbols</em>
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CHONDROECTODERMAL DYSPLASIA<br />
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MESOECTODERMAL DYSPLASIA
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<strong>SNOMEDCT:</strong> 62501005;
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<strong>ICD10CM:</strong> Q77.6;
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<strong>ICD9CM:</strong> 756.55;
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<strong>ORPHA:</strong> 289;
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<strong>DO:</strong> 12714;
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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 <br /> MIM number
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4p16.2
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Ellis-van Creveld syndrome
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225500
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Autosomal recessive
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<span class="mim-font">
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3
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EVC2
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607261
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4p16.2
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<span class="mim-font">
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Ellis-van Creveld syndrome
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<span class="mim-font">
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225500
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<span class="mim-font">
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Autosomal recessive
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<span class="mim-font">
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3
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EVC
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<span class="mim-font">
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604831
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because Ellis-van Creveld syndrome (EVC) is caused by homozygous or compound heterozygous mutation in the EVC gene (604831) on chromosome 4p16.</p><p>Ellis-van Creveld syndrome can also be caused by mutation in a nonhomologous gene, EVC2 (607261), located close to the EVC gene in a head-to-head configuration.</p><p>Mutations in the EVC and EVC2 genes also cause Weyers acrofacial dysostosis (WAD; 193530), an allelic disorder showing autosomal dominant inheritance.</p>
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<strong>Description</strong>
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<p>Ellis-van Creveld syndrome is an autosomal recessive skeletal dysplasia characterized by short limbs, short ribs, postaxial polydactyly, and dysplastic nails and teeth. Congenital cardiac defects, most commonly a defect of primary atrial septation producing a common atrium, occur in 60% of affected individuals (summary by Ruiz-Perez et al., 2000). </p><p>The clinical features of the Ellis-van Creveld syndrome appear to be identical regardless of whether the disorder is caused by mutation in the EVC gene (604831) or in the EVC2 gene (607261) (Ruiz-Perez et al., 2003, Galdzicka et al., 2002). </p>
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<strong>Clinical Features</strong>
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<p>The largest pedigree with EVC was that observed by McKusick et al. (1964) in an inbred religious isolate, the Old Order Amish, in Lancaster County, Pennsylvania. Almost as many persons were known in this one kindred as had been reported in all the medical literature up to that time. Features are dwarfism with most striking shortening in the distal part of the extremities, polydactyly, fusion of the hamate and capitate bones of the wrist, dystrophy of the fingernails, change in the upper lip variously called 'partial hare-lip,' 'lip-tie,' etc., and cardiac malformation, usually a septal defect and often single atrium. Teeth may already be erupted at birth ('natal teeth;' 187050) and exfoliate prematurely. </p><p>From observations in the large Amish kindred, McKusick et al. (1964) concluded that there are no heterozygous manifestations of EVC. However, Fryns (1991) noted the occurrence of unilateral postaxial polydactyly type A (complete extra finger and extra metacarpal) in one parent and one otherwise normal brother of 2 unrelated newborn infants with EVC. Goldblatt et al. (1992) described EVC in a Western Australian Aboriginal community in which 2 relatives were observed to have isolated postaxial polydactyly of the feet. They advanced this as evidence of heterozygous manifestation. In the 2 families reported by Goldblatt et al. (1992), each with 1 case of EVC, the postaxial polydactyly of the feet occurred in a first cousin and a first cousin once removed of the proband in 1 family only. </p><p>Engle and Ehlers (1969) described a case of EVC syndrome with unilateral polydactyly. The left hand and the right foot had an extra digit. A second child with EVC had been born in this family; polydactyly of the hands was bilateral (Engle, 1976).</p><p>Blackburn and Belliveau (1971) reported 2 sibs EVC with single atrium and hypoplastic left heart syndrome. </p><p>Onat (1994) described a patient with single atrium and postaxial hexodactyly. Since the patient had no additional anomalies, all known syndromes, including the EVC combination of malformations, were excluded and it was proposed that the association represented a previously undescribed syndrome. Digilio et al. (1995) described 2 children with this combination and referred to 2 children previously reported in an abstract. They raised the possibility that Ellis-van Creveld syndrome and single atrium/polydactyly syndrome may be related, possibly due to allelic mutations. The parents of one of the children reported by Digilio et al. (1995) were consanguineous, and the father, like the daughter, had postaxial polydactyly of the left hand and both feet, partial atrial ventricular canal with single atrium, and agenesis of the upper lateral incisors bilaterally with enamel abnormalities. His height was 165 cm. The father and daughter were later found to have a mutation in the EVC gene (604831.0005) (Ruiz-Perez et al., 2000). </p><p>Spranger and Tariverdian (1995) described a 13-month-old girl with apparently typical EVC whose 32-year-old father had some features that they suggested might be heterozygous manifestations. He had disproportionate short stature (162 cm). Polydactyly was not present either clinically or by x-ray examination. Hands and feet were broad and square with short fingers and toes. He could not make a tight fist. He had dysplastic finger- and toenails, which never needed to be cut and were quite typical of those of EVC. The teeth were conical in shape with side spaces. The father had previously been thought to have Weyers acrodental dysostosis. Spranger and Tariverdian (1995) reviewed other reports of possible heterozygous manifestations. </p><p>Howard et al. (1997) studied a 4-generation family with features of Weyers acrofacial dysostosis in which the proband had a more severe phenotype, resembling Ellis-van Creveld syndrome. Weyers acrofacial dysostosis is an autosomal dominant condition with dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature. EVC is a similar condition, with autosomal recessive inheritance and the additional features of disproportionate dwarfism, thoracic dysplasia, and congenital heart disease. </p><p>Mostafa et al. (2005) reported 6 cases of EVC in 3 Egyptian families. All of the families were consanguineous. Father to son or daughter transmission was observed in 2 of the families, thus demonstrating pseudodominant inheritance. None of the presumed heterozygotes in these families exhibited abnormalities of the body, limbs, or orodental structures. Bifid tip of the tongue was found in all affected individuals. Mostafa et al. (2005) suggested that midline orodental anomalies should be sought in cases of EVC and Weyers acrofacial dysostosis, and that their presence or absence might be a differentiating feature between the 2 disorders. </p>
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<h4>
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<span class="mim-font">
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<strong>Diagnosis</strong>
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<span class="mim-text-font">
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<p><strong><em>Prenatal Diagnosis</em></strong></p><p>
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Mahoney and Hobbins (1977) proposed fetoscopy and ultrasound as methods of prenatal diagnosis. Qureshi et al. (1993) described the skeletal histopathology in 3 fetuses with EVC. The diagnosis had been made in each of these cases on the basis of ultrasonography, and the pregnancies were terminated at 22 to 23 weeks. </p>
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<h4>
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<strong>Population Genetics</strong>
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</span>
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<span class="mim-text-font">
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<p>D'Asdia et al. (2013) stated that the incidence of Ellis-van Creveld syndrome is estimated at 1 in 60,000, whereas it is as high as 5 in 1000 in the Old Order Amish community of Lancaster County, Pa. </p>
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<strong>Mapping</strong>
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<p>In studies of 9 interrelated Amish pedigrees and 2 unrelated families from Mexico and Ecuador, Francomano et al. (1995) demonstrated linkage of the EVC gene to the distal short arm of chromosome 4 in an area proximal to the FGFR3 gene (134934), which is mutant in achondroplasia (100800) and hypochondroplasia (146000). The maximum lod score was 4.65 at theta = 0.05 for marker D4S431.</p><p>Polymeropoulos et al. (1996) reported the results of linkage analysis in 9 interrelated Amish pedigrees and 3 unrelated families from Mexico, Ecuador, and Brazil. Their analysis revealed linkage of the Ellis-van Creveld phenotype to genetic markers on the short arm of chromosome 4p with no evidence of heterogeneity. Polymeropoulos et al. (1996) reported that multipoint analysis places the gene between D4S3007 and D4S431, whereas haplotype analysis sublocalizes the gene in the interval between D4S2957 and D4S827. </p><p>By linkage and haplotype analysis in a 4-generation family with features of Weyers acrofacial dysostosis in which the proband had a more severe phenotype resembling Ellis-van Creveld syndrome, Howard et al. (1997) determined that the disease locus resided on 4p16, distal to the genetic marker D4S3007 and within a 17-cM region flanking the genetic locus D4S2366. This region includes the EVC locus, which had previously been mapped within a 3-cM region between genetic markers D4S2957 and D4S827. The authors concluded that either the genes for the condition in the family of Howard et al. (1997) and for EVC are near one another or these 2 conditions are allelic. The data also raised the possibility that Weyers acrofacial dysostosis is a heterozygous expression of the mutation that, in homozygous form, causes the autosomal recessive disorder EVC. </p><p><strong><em>Exclusion Studies</em></strong></p><p>
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Polymeropoulos et al. (1996) suggested that the HMX1 gene (142992) is most likely located in the 12-cM interval between D4S394 and D4S2362, excluding it as a candidate gene for Ellis-van Creveld syndrome. Ide et al. (1996) excluded the MSX1 gene (142983) as a candidate gene for this disorder in the Amish. </p>
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<strong>Inheritance</strong>
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<span class="mim-text-font">
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<p>The transmission pattern of Ellis-van Creveld syndrome in the families reported by Ruiz-Perez et al. (2000) was consistent with autosomal recessive inheritance. </p>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<span class="mim-text-font">
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<p>By positional cloning, Ruiz-Perez et al. (2000) identified a novel gene, EVC (604831), that is mutated in individuals with Ellis-van Creveld syndrome. They identified a splice-donor change in an Amish pedigree (604831.0001), and 6 truncating mutations and a single amino acid deletion in 7 pedigrees (see, e.g., 604831.0002-604831.0004). The heterozygous carriers of these mutations did not manifest features of EVC. </p><p>Ruiz-Perez et al. (2000) found 2 heterozygous missense mutations associated with a phenotype, one in a man with Weyers acrodental dysostosis (604831.0006) and another in a father and his daughter, who both had the heart defect characteristic of EVC and polydactyly, but not short stature (604831.0005). Ruiz-Perez et al. (2000) suggested that EVC and Weyers acrodental dysostosis are allelic conditions. </p><p>In a patient with Ellis-van Creveld syndrome of Ashkenazi Jewish origin, Galdzicka et al. (2002) identified 2 homozygous mutations in the EVC2 gene; see 607261.0007. </p><p>In a patient with Ellis-van Creveld syndrome in a consanguineous Gypsy pedigree, Ruiz-Perez et al. (2003) identified a frameshift mutation in the EVC2 gene (607261.0001). They found 4 other truncating mutations and a missense change. </p><p>Tompson et al. (2007) analyzed the EVC and EVC2 genes in 65 unrelated individuals with EVC syndrome, 19 of whom came from consanguineous families. Mutations in the EVC gene were identified in 20 patients (17 homozygotes and 3 compound heterozygotes); mutations in the EVC2 gene were identified in 25 patients (17 homozygotes, 5 compound heterozygotes, and 3 in whom only 1 mutation was identified). The majority of the mutations introduced a premature termination codon. The authors noted that no mutations were found in either gene in 20 (31%) cases and suggested that there may be further genetic heterogeneity. </p><p>In a 6-year-old Chinese girl with mild Ellis-van Creveld syndrome, Shen et al. (2011) identified compound heterozygosity for a splice site and a missense mutation in the EVC2 gene (607621.0010-607621.0011). The patient had mild short stature, postaxial polydactyly, dysplastic nails, abnormal teeth, and genus valgum; features not present in this patient included short ribs, narrow thorax, or cardiac defects. Her unaffected parents were each heterozygous for 1 of the mutations; neither mutation was found in 200 control chromosomes. Shen et al. (2011) noted that all 3 Weyers acrofacial dysostosis-associated mutations reported to date were located in exon 22 of EVC2, whereas this patient's mutations were in IVS5 and exon 15. </p>
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<h4>
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<span class="mim-font">
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<strong>History</strong>
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</span>
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<p>The disorder that now goes by the name of Ellis-van Creveld syndrome was described by Richard W. B. Ellis (1902-1966) of Edinburgh and Simon van Creveld (1895-1971) of Amsterdam. Each had a patient with this syndrome, as they had discovered when they met in the same train compartment on the way to a pediatrics conference in England in the late 1930s. A third patient had been referred to by L. Emmett Holt, Jr. and Rustin McIntosh in a textbook of pediatrics (Holt and McIntosh, 1933) and was included in full in the paper by Ellis and van Creveld (1940). </p><p>McKusick (2000) provided perspective on the classic study of dwarfism, including Ellis-van Creveld syndrome, in the Lancaster County Amish. </p><p>Christian et al. (1980) reported the unusual case of an infant with both Ellis-van Creveld and Dandy-Walker syndromes and with homozygosity for an unusually long heterochromatic segment of the long arm of chromosome 9 (9qh+). The 18-year-old mother was mentally retarded, the product of a first-cousin mating, and less than 4 feet tall. Although thelarche and menarche occurred on schedule, she developed no pubic or axillary hair. The authors suggested that she may have had a previously unknown recessive disorder. The mating that resulted in the offspring with EVC and Dandy-Walker syndromes was presumably incestuous. Her father and 2 of her brothers, like the 18-year-old mother, had the 9qh+. </p><p>Zangwill et al. (1988) described hydrocephalus and the Dandy-Walker anomaly in EVC. </p><p>Rosemberg et al. (1983) reported the fatal case of a 19-month-old daughter of consanguineous parents who in addition to cardiac defects, including single atrium, had cerebral heteropias, left renal agenesis, and right megaureter. Serotkin et al. (1988) found features suggesting EVC in an infant who was mosaic for duplication 17q21.1-qter, owing to a direct tandem duplication. The child had bilateral polydactyly of the feet but not of the hands, dysplastic nails, and lip-tie. His gums had scalloped edges, and 2 neonatal teeth were evident. </p><p>Because of an observation of the radiologic features characteristic of Jeune syndrome (208500) and EVC in a Japanese boy with a de novo del(12)(p11.21p12.2) chromosomal aberration, Nagai et al. (1995) suggested that the EVC locus is situated on 12p. </p><p>EVC and McKusick-Kaufman (MKKS; 236700) syndromes are clinically similar, recessively inherited disorders sharing postaxial polydactyly of the hands and feet and a distinct congenital heart defect. Distinguishing characteristics are the osteochondrodysplasia and ectodermal anomalies in EVC syndrome, and hydrometrocolpos in MKKS. Hydrometrocolpos had been described in the Ellis-van Creveld syndrome by Akoun and Bagard (1956). Digilio et al. (1997) studied 2 sisters presenting with apparent EVC, 1 of whom also had hydrometrocolpos. Digilio et al. (2004) restudied the sisters and excluded linkage to either 4p (where EVC maps) or 20p (where MKKS maps). The sisters were later found to have short-rib thoracic dysplasia-15 with polydactyly (SRTD15; 617088). </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Nomenclature</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>'Six-fingered dwarfism' was an alternative designation used for this condition when it was being studied in the Amish (McKusick et al., 1964) and may have served a useful function in defining this then little known condition for the medical profession, as well as the lay public. The term, however, has been found offensive by some, apparently not because of 'dwarfism,' but because of the reference to the polydactyly, which is seen as a 'freakish' labeling. For this reason, 6-fingered dwarfism has been removed as an alternative name for this entry. This leaves Ellis-van Creveld syndrome with its felicitous abbreviation, EVC, as the only satisfactory designation. Chondroectodermal dysplasia and mesoectodermal dysplasia do not well define the entity and are not satisfactory for general usage, either medical or lay. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Alvarez-Borja (1960); Da Silva et al. (1980); Donlan et al. (1969);
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Douglas et al. (1959); Hirokawa and Suzuki (1967); Husson and Parkman
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(1961); Leung (1986); Taylor et al. (1984); Walls et al. (1959)
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<ol>
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<li>
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<p class="mim-text-font">
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Akoun, R., Bagard, M.
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<strong>La maladie d'Ellis-van Creveld.</strong>
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Algerie Med. 60: 769-772, 1956.
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[PubMed: 13381673]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Alvarez-Borja, A.
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<strong>Ellis-van Creveld syndrome: report of two cases.</strong>
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Pediatrics 26: 301-309, 1960.
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[PubMed: 13793041]
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<p class="mim-text-font">
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Blackburn, M. G., Belliveau, R. E.
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<strong>Ellis-van Creveld syndrome: a report of previously undescribed anomalies in two siblings.</strong>
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Am. J. Dis. Child. 122: 267-270, 1971.
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[PubMed: 5568596]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Christian, J. C., Dexter, R. N., Palmer, C. G., Muller, J.
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<strong>A family with three recessive traits and homozygosity for a long 9qh+ chromosome segment.</strong>
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Am. J. Med. Genet. 6: 301-308, 1980.
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[PubMed: 6938130]
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[Full Text: https://doi.org/10.1002/ajmg.1320060407]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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D'Asdia, M. C., Torrente, I., Consoli, F., Ferese, R., Magliozzi, M., Bernardini, L., Guida, V., Digilio, M. C., Marino, B., Dallapicolla, B., De Luca, A.
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<strong>Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dysostosis.</strong>
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Europ. J. Med. Genet. 56: 80-87, 2013.
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[PubMed: 23220543]
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[Full Text: https://doi.org/10.1016/j.ejmg.2012.11.005]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Da Silva, E. O., Janovitz, D., De Albuquerque, S. C.
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<strong>Ellis-van Creveld syndrome: report of 15 cases in an inbred kindred.</strong>
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J. Med. Genet. 17: 349-356, 1980.
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[PubMed: 7218275]
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[Full Text: https://doi.org/10.1136/jmg.17.5.349]
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</p>
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<li>
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<p class="mim-text-font">
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Digilio, M. C., Giannotti, A., Torrente, I., Dallapiccola, B., Goodship, J. A., Marino, B., Novelli, G.
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<strong>Ellis-van Creveld syndrome with hydrometrocolpos is not linked to chromosome arm 4p or 20p. (Letter)</strong>
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Am. J. Med. Genet. 126A: 319-323, 2004.
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[PubMed: 15054850]
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[Full Text: https://doi.org/10.1002/ajmg.a.20237]
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</p>
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<li>
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<p class="mim-text-font">
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Digilio, M. C., Marino, B., Giannotti, A., Dallapiccola, B.
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<strong>Single atrium, atrioventricular canal/postaxial hexodactyly indicating Ellis-van Creveld syndrome.</strong>
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Hum. Genet. 96: 251-253, 1995.
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[PubMed: 7635486]
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[Full Text: https://doi.org/10.1007/BF00207395]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Digilio, M. C., Marino, B., Giannotti, A., Dallapiccola, B.
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<strong>Atrioventricular canal defect and postaxial polydactyly indicating phenotypic overlap of Ellis-van Creveld and Kaufman-McKusick syndromes. (Letter)</strong>
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Pediat. Cardiol. 18: 74-75, 1997.
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[PubMed: 8960501]
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[Full Text: https://doi.org/10.1007/s002469900116]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Donlan, M. A., Murphy, J. J., Brakel, C. A.
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<strong>Ellis-van Creveld syndrome associated with complete situs inversus.</strong>
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Clin. Pediat. 8: 366-368, 1969.
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[PubMed: 5770269]
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[Full Text: https://doi.org/10.1177/000992286900800613]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Douglas, W. F., Schonholtz, G. J., Geppert, L. J.
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<strong>Chondroectodermal dysplasia (Ellis-van Creveld syndrome).</strong>
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Am. J. Dis. Child. 97: 473-478, 1959.
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</p>
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<li>
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<p class="mim-text-font">
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Ellis, R. W. B., van Creveld, S.
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<strong>A syndrome characterized by ectodermal dysplasia, polydactyly, chondro-dysplasia and congenital morbus cordis: report of three cases.</strong>
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Arch. Dis. Child. 15: 65-84, 1940.
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[PubMed: 21032169]
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[Full Text: https://doi.org/10.1136/adc.15.82.65]
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</p>
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<li>
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<p class="mim-text-font">
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Engle, M. A., Ehlers, K. H.
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<strong>Ellis-van Creveld syndrome with asymmetric polydactyly and successful surgical correction of common atrium.</strong>
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Birth Defects Orig. Art. Ser. V(4): 65-67, 1969.
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</p>
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<li>
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<p class="mim-text-font">
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Engle, M. A.
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<strong>Personal Communication.</strong>
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New York, N. Y. 1976.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Francomano, C. A., Ortez deLuna, R. I., Ide, S. E., Pyeritz, R. E., Wright, M., Polymeropoulos, M. H.
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<strong>The gene for the Ellis-van Creveld syndrome maps to chromosome 4p16. (Abstract)</strong>
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Am. J. Hum. Genet. 57 (suppl.): A191 only, 1995.
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</p>
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<li>
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<p class="mim-text-font">
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Fryns, J.-P.
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<strong>Postaxial polydactyly as heterozygote manifestation in Ellis-van Creveld syndrome? (Letter)</strong>
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Am. J. Med. Genet. 39: 500 only, 1991.
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[PubMed: 1877634]
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[Full Text: https://doi.org/10.1002/ajmg.1320390430]
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</p>
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<li>
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<p class="mim-text-font">
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Galdzicka, M., Patnala, S., Hirshman, M. G., Cai, J.-F., Nitowsky, H., Egeland, J. A., Ginns, E. I.
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<strong>A new gene, EVC2, is mutated in Ellis-van Creveld syndrome.</strong>
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Molec. Genet. Metab. 77: 291-295, 2002.
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[PubMed: 12468274]
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[Full Text: https://doi.org/10.1016/s1096-7192(02)00178-6]
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<p class="mim-text-font">
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Goldblatt, J., Minutillo, C., Pemberton, P. J., Hurst, J.
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<strong>Ellis-van Creveld syndrome in a Western Australian Aboriginal community: postaxial polydactyly as a heterozygous manifestation?</strong>
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Med. J. Aust. 157: 271-272, 1992.
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[PubMed: 1435447]
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<li>
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<p class="mim-text-font">
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Hirokawa, K., Suzuki, S.
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<strong>Ellis-van Creveld syndrome: report of an autopsy case.</strong>
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Acta Path. Jpn. 17: 139-143, 1967.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Holt, L. E., Jr., McIntosh, R.
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<strong>Holt's Diseases of Infancy and Childhood: A Textbook for the Use of Students and Practitioners. (10th ed.)</strong>
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New York: Appleton and Co. (pub.) 1933. P. 362.
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</p>
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<li>
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<p class="mim-text-font">
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Howard, T. D., Guttmacher, A. E., McKinnon, W., Sharma, M., McKusick, V. A., Jabs, E. W.
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<strong>Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus.</strong>
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Am. J. Hum. Genet. 61: 1405-1412, 1997.
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[PubMed: 9399901]
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[Full Text: https://doi.org/10.1086/301643]
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</p>
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<li>
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<p class="mim-text-font">
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Husson, G. S., Parkman, P.
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<strong>Chondroectodermal dysplasia (Ellis-van Creveld syndrome) with a complex cardiac malformation.</strong>
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Pediatrics 28: 285-292, 1961.
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[PubMed: 13717019]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Ide, S. E., Ortiz De Luna, R. I., Francomano, C. A., Polymeropoulos, M. H.
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<strong>Exclusion of the MSX1 homeobox gene as the gene for the Ellis van Creveld syndrome in the Amish.</strong>
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Hum. Genet. 98: 572-575, 1996.
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[PubMed: 8882877]
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[Full Text: https://doi.org/10.1007/s004390050261]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Leung, A. K. C.
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<strong>Natal teeth.</strong>
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Am. J. Dis. Child. 140: 249-251, 1986.
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[PubMed: 3946356]
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[Full Text: https://doi.org/10.1001/archpedi.1986.02140170075033]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Mahoney, M. J., Hobbins, J. C.
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<strong>Prenatal diagnosis of chondroectodermal dysplasia (Ellis-van Creveld syndrome) with fetoscopy and ultrasound.</strong>
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New Eng. J. Med. 297: 258-260, 1977.
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[PubMed: 876300]
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[Full Text: https://doi.org/10.1056/NEJM197708042970507]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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McKusick, V. A., Egeland, J. A., Eldridge, R., Krusen, D. E.
|
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<strong>Dwarfism in the Amish. I. The Ellis-van Creveld syndrome.</strong>
|
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Bull. Johns Hopkins Hosp. 115: 306-336, 1964.
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[PubMed: 14217223]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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McKusick, V. A.
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<strong>Ellis-van Creveld syndrome and the Amish.</strong>
|
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Nature Genet. 24: 203-204, 2000.
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[PubMed: 10700162]
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[Full Text: https://doi.org/10.1038/73389]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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