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Entry
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- #169100 - CHAR SYNDROME; CHAR
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- OMIM
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<p>
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<span class="h4">#169100</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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<li role="presentation">
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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/169100"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<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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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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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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</div>
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<span class="panel-title">
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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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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=CHAR 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=10602&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/NBK1106/" 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/1275" 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/char-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=169100[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=46627" 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/73531c2e-506f-4ae9-903a-e148830ba989/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:0060563" 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/169100" 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/OMIA000779/" 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:0060563" 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>
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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> 703534001<br />
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<strong>ORPHA:</strong> 46627<br />
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<strong>DO:</strong> 0060563<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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169100
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</span>
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</span>
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</div>
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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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CHAR SYNDROME; CHAR
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</span>
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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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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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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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</span>
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</p>
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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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PATENT DUCTUS ARTERIOSUS WITH FACIAL DYSMORPHISM AND ABNORMAL FIFTH DIGITS
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</span>
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</h4>
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</div>
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</div>
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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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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/6/578?start=-3&limit=10&highlight=578">
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6p12.3
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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Char syndrome
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/169100"> 169100 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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TFAP2B
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/601601"> 601601 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/169100" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
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</button>
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/169100" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/169100" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<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>
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<div>
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<p />
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Face </em>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Broad forehead <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849089&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849089</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000337" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000337</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000337" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000337</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=40e77945a1b2a5742a89317aeb604f00" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Forehead,Broad-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=40e77945a1b2a5742a89317aeb604f00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
|
|
Short philtrum <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861324&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861324</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000322</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000322" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000322</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=16ecf2e0f23dddf7b8b7cf447ceb827b" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Philtrum,Short-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=16ecf2e0f23dddf7b8b7cf447ceb827b" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ears </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Prominent ears <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/275478007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">275478007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q17.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q17.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1305420&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1305420</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000411" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000411</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000411" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000411</a>]</span><br /> -
|
|
Low-set ears <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95515009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95515009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q17.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q17.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239234&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239234</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000369" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000369</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000369" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000369</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9f0956aaa4fd45c34f94336afbbdc931" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Ear,Low-Set-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9f0956aaa4fd45c34f94336afbbdc931" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Ptosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/11934000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">11934000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29696001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29696001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.409" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.409</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.40</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/374.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">374.3</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/374.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">374.30</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0005745&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0005745</a>, <a href="https://bioportal.bioontology.org/search?q=C0033377&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0033377</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000508</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000508</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=76abf29563d4adc64d21da86221224b1" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Ptosis-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=76abf29563d4adc64d21da86221224b1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
|
|
Hypertelorism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22006008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22006008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/376.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">376.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020534&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020534</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Eyes,Widely_Spaced-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
|
|
Thick, flared eyebrows <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1868571&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868571</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002553" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002553</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002553" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002553</a>]</span><br /> -
|
|
Strabismus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22066006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22066006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.40</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038379&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038379</a>, <a href="https://bioportal.bioontology.org/search?q=C2020541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2020541</a>, <a href="https://bioportal.bioontology.org/search?q=C1423541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1423541</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000486" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000486</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000486" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000486</a>]</span><br />
|
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|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Nose </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Broad nasal tip <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249327002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249327002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0426429&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0426429</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000455" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000455</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000455" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000455</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=6ddac380d031baefd82dea5c5d13ca2a" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Nasal_Tip,Broad-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=6ddac380d031baefd82dea5c5d13ca2a" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
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</span>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Mouth </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Prominent 'duckbill' lips <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1868572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868572</a>]</span><br /> -
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Triangular mouth <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849341&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849341</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000207" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000207</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000207" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000207</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Teeth </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Retention of primary teeth (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1231153007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1231153007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1852222&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1852222</a>]</span><br /> -
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Partial or complete absence of secondary teeth (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4315882&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4315882</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> CARDIOVASCULAR </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Vascular </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Patent ductus arteriosus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/83330001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">83330001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q25.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q25.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/747.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">747.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013274&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013274</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001643" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001643</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001643" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001643</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Skull </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
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|
|
- Protuberant occipital bone <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4315888&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4315888</a>]</span><br /> -
|
|
Sharp elevated ridge at border of occipital bone <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4315887&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4315887</a>]</span><br />
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</span>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<em> Hands </em>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
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<span class="mim-font">
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|
|
- Fifth finger clinodactyly <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850049&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850049</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004209" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004209</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004209" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004209</a>]</span><br /> -
|
|
Fifth finger distal interphalangeal joint symphalangism <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1868573&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1868573</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009244" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009244</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009244" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009244</a>]</span><br />
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</span>
|
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</div>
|
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Feet </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
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|
|
- Clinodactyly of fourth and fifth toes (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4315886&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4315886</a>]</span><br /> -
|
|
Syndactyly of fourth and fifth toes (rare) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4315885&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4315885</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
|
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
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<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Developmental delay, mild <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1848735&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1848735</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248290002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248290002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/224958001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">224958001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F88" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F88</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/315.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">315.9</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span><br />
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</span>
|
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</div>
|
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</div>
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<div>
|
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Behavioral Psychiatric Manifestations </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Parasomnia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/58690002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">58690002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G47.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G47.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/G47.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G47.50</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0030508&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0030508</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025234" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025234</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0025234" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0025234</a>]</span><br /> -
|
|
Sleepwalking associated with food-seeking behavior <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4315889&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4315889</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
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</div>
|
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<div style="margin-left: 2em;">
|
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<div>
|
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<span class="mim-font">
|
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|
|
- Intrafamilial variability, with some family members exhibiting only facial dysmorphism and clinodactyly<br />
|
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|
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</span>
|
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</div>
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</div>
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</div>
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<div>
|
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
|
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<span class="mim-font">
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|
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- Caused by mutations in the transcription factor AP-2 beta gene (TFAP2B, <a href="/entry/601601#0001">601601.0001</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div class="text-right">
|
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
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</div>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
|
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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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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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that Char syndrome (CHAR) is caused by heterozygous mutation in the TFAP2B (<a href="/entry/601601">601601</a>) gene on chromosome 6p12.</p>
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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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<a id="description" class="mim-anchor"></a>
|
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Char syndrome (CHAR) is an autosomal dominant disorder characterized by patent ductus arteriosus (PDA), facial dysmorphism, and abnormal fifth digits of the hands (summary by <a href="#5" class="mim-tip-reference" title="Satoda, M., Pierpont, M. E. M., Diaz, G. A., Bornemeier, R. A., Gelb, B. D. <strong>Char syndrome, an inherited disorder with patent ductus arteriosus, maps to chromosome 6p12-p21.</strong> Circulation 99: 3036-3042, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10368122/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10368122</a>] [<a href="https://doi.org/10.1161/01.cir.99.23.3036" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10368122">Satoda et al., 1999</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10368122" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Davidson, H. R. <strong>A large family with patent ductus arteriosus and unusual face.</strong> J. Med. Genet. 30: 503-505, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8326495/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8326495</a>] [<a href="https://doi.org/10.1136/jmg.30.6.503" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8326495">Davidson (1993)</a> described a large family in which 9 members in 6 sibships in 3 generations had patent ductus arteriosus (see <a href="/entry/607411">607411</a>) in association with unusual facial features, namely, broad, high forehead, flat profile, and short nose with a broad, flattened tip. The facial features appeared to follow an autosomal dominant pedigree pattern with at least 1 instance of male-to-male transmission; PDA showed incomplete penetrance. PDA was reported by the family to be present in 2 other members, one of whom was said to have the facial features and one not. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8326495" 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="Pierpoint, M. E., Sletten, L. J. <strong>Char syndrome: a cause of familial patent ductus arteriosus. (Abstract)</strong> Am. J. Hum. Genet. 55 (suppl.): A89 only, 1994."None>Pierpoint and Sletten (1994)</a> used the eponym Char syndrome for familial PDA with unusual facial features, including long philtrum, downslanting palpebral fissures, and thick lips. They reported a new family in which 7 members had PDA. Premature birth was not a factor in any of these individuals. PDA had been the only form of congenital heart anomaly present in family members except for one 8-year-old boy who had a small muscular ventricular septal defect. Three generations were affected in an autosomal dominant pedigree pattern.</p><p><a href="#8" class="mim-tip-reference" title="Sletten, L. J., Pierpont, M. E. M. <strong>Familial occurrence of patent ductus arteriosus.</strong> Am. J. Med. Genet. 57: 27-30, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7645594/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7645594</a>] [<a href="https://doi.org/10.1002/ajmg.1320570108" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7645594">Sletten and Pierpont (1995)</a> observed 7 relatives in 5 sibships in 3 generations of a family with patent ductus arteriosus and a slightly unusual facial appearance with prominent midface with nose elongation and flattening of the nasal bridge, wide-set eyes, downturned palpebral fissures, mild ptosis, thick lips, and apparently slightly low-set ears. The pattern was consistent with autosomal dominant inheritance although no male-to-male transmission was observed. <a href="#8" class="mim-tip-reference" title="Sletten, L. J., Pierpont, M. E. M. <strong>Familial occurrence of patent ductus arteriosus.</strong> Am. J. Med. Genet. 57: 27-30, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7645594/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7645594</a>] [<a href="https://doi.org/10.1002/ajmg.1320570108" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7645594">Sletten and Pierpont (1995)</a> gave an extensive tabulation of reports of familial PDA. They pointed to the syndrome reported by <a href="#1" class="mim-tip-reference" title="Char, F. <strong>Peculiar facies with short philtrum, duck-bill lips, ptosis and low-set ears--a new syndrome?</strong> Birth Defects Orig. Art. Ser. XIV(6B): 303-305, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/728571/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">728571</a>]" pmid="728571">Char (1978)</a> in which patent ductus arteriosus was associated with a much more unusual facies with short philtrum, 'duck-bill' lips, ptosis, and low-set ears. <a href="#10" class="mim-tip-reference" title="Temple, I. K. <strong>Char syndrome (unusual mouth, patent ductus arteriosus, phalangeal anomalies).</strong> Clin. Dysmorph. 1: 17-21, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1342853/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1342853</a>]" pmid="1342853">Temple (1992)</a> also described this syndrome, referring to it as Char syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1342853+728571+7645594" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Slavotinek, A., Clayton-Smith, J., Super, M. <strong>Familial patent ductus arteriosus: a further case of CHAR syndrome.</strong> Am. J. Med. Genet. 71: 229-232, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9217229/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9217229</a>]" pmid="9217229">Slavotinek et al. (1997)</a> described a family with PDA, a distinctive facial appearance (eyebrow flare, short nose, and 'duck-bill' lips), polydactyly, and fifth finger clinodactyly. The facial features were considered consistent with CHAR syndrome. Seven members of 3 generations were affected, with 2 instances of male-to-male transmission. This was the first report of associated polydactyly that was interstitial in type. The foot of 1 patient with 2 toes attached to the fourth metatarsal was illustrated. Evolution of the phenotype with age was noted; the facial findings in older relatives were less pronounced and the 'duck-bill' lips less prominent. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9217229" 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="#5" class="mim-tip-reference" title="Satoda, M., Pierpont, M. E. M., Diaz, G. A., Bornemeier, R. A., Gelb, B. D. <strong>Char syndrome, an inherited disorder with patent ductus arteriosus, maps to chromosome 6p12-p21.</strong> Circulation 99: 3036-3042, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10368122/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10368122</a>] [<a href="https://doi.org/10.1161/01.cir.99.23.3036" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10368122">Satoda et al. (1999)</a> pictured characteristic facial features, including short philtrum, prominent lips, flat nasal bridge with upturned nares, and ptosis. They also illustrated the changes in the hand: absent fifth middle phalanges with hypoplasia of the fifth proximal and distal phalanges. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10368122" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Zannolli, R., Mostardini, R., Matera, M., Pucci, L., Gelb, B. D., Morgese, G. <strong>Char syndrome: an additional family with polythelia, a new finding.</strong> Am. J. Med. Genet. 95: 201-203, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11102923/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11102923</a>] [<a href="https://doi.org/10.1002/1096-8628(20001127)95:3<201::aid-ajmg3>3.0.co;2-w" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11102923">Zannolli et al. (2000)</a> reported a father and daughter with Char syndrome. Both had the typical facial features as well as strabismus and foot anomalies. The daughter also had patent ductus arteriosus. Both patients had supernumerary nipples (<a href="/entry/163700">163700</a>), a finding not described before in Char syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11102923" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Sweeney, E., Fryer, A., Walters, M. <strong>Char syndrome: a new family and review of the literature emphasising (sic) the presence of symphalangism and the variable phenotype.</strong> Clin. Dysmorph. 9: 177-182, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10955477/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10955477</a>] [<a href="https://doi.org/10.1097/00019605-200009030-00005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10955477">Sweeney et al. (2000)</a> reported a mother, son, and daughter with the typical facial features of Char syndrome. The son had symphalangism of the distal interphalangeal joints of the fifth fingers with loss of overlying skin creases and clinodactyly. The mother had similar digital features, and the daughter was said to have had them but was not personally examined by the authors. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10955477" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Mani, A., Radhakrishnan, J., Farhi, A., Carew, K. S., Warnes, C. A., Nelson-Williams, C., Day, R. W., Pober, B., State, M. W., Lifton, R. P. <strong>Syndromic patent ductus arteriosus : evidence for haploinsufficient TFAP2B mutations and identification of a linked sleep disorder.</strong> Proc. Nat. Acad. Sci. 102: 2975-2979, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15684060/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15684060</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15684060[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/10.1073/pnas.0409852102" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15684060">Mani et al. (2005)</a> studied a large 3-generation family with Char syndrome (family K144) in which there were 22 affected individuals, including 9 with PDA, facial dysmorphism, and clinodactyly, and 13 who showed dysmorphology and clinodactyly without PDA. In addition, there was 1 obligate carrier who was nonpenetrant for all features, and 1 infant died in the neonatal period from heart failure, with coarctation of the aorta, bicuspid aortic valve, and a large PDA. All 9 PDA patients, including the deceased infant, were born at term from a normal gestation, and were diagnosed between the neonatal period and age 30 years. Thus, in this family, PDA showed incomplete penetrance, whereas dysmorphic facies and clinodactyly showed evidence of high penetrance. Further evaluation of family members revealed additional features segregating with the disorder, including hypodontia in 14 affected individuals, who retained their primary teeth and either partially or completely lacked secondary teeth, and parasomnia in 13, involving sleepwalking associated with food-seeking behavior. There were also 10 affected family members who exhibited protuberant occipital bone with overlying coarse hair; in each case, the border of the occiput had a sharp ridge, suggestive of craniosynostosis. None of these additional features was observed in any unaffected family member. <a href="#3" class="mim-tip-reference" title="Mani, A., Radhakrishnan, J., Farhi, A., Carew, K. S., Warnes, C. A., Nelson-Williams, C., Day, R. W., Pober, B., State, M. W., Lifton, R. P. <strong>Syndromic patent ductus arteriosus : evidence for haploinsufficient TFAP2B mutations and identification of a linked sleep disorder.</strong> Proc. Nat. Acad. Sci. 102: 2975-2979, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15684060/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15684060</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15684060[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/10.1073/pnas.0409852102" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15684060">Mani et al. (2005)</a> also studied an affected father and 2 daughters from an unrelated family with Char syndrome (family K145). All exhibited PDA, dysmorphic facies, and clinodactyly; the father's sister was also reported to be affected. <a href="#3" class="mim-tip-reference" title="Mani, A., Radhakrishnan, J., Farhi, A., Carew, K. S., Warnes, C. A., Nelson-Williams, C., Day, R. W., Pober, B., State, M. W., Lifton, R. P. <strong>Syndromic patent ductus arteriosus : evidence for haploinsufficient TFAP2B mutations and identification of a linked sleep disorder.</strong> Proc. Nat. Acad. Sci. 102: 2975-2979, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15684060/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15684060</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15684060[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/10.1073/pnas.0409852102" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15684060">Mani et al. (2005)</a> noted that in addition to finger clinodactyly, affected members of both kindreds had varying degrees of clinodactyly of the fourth and fifth toes, and syndactyly of the fourth and fifth toes was seen in 4 affected individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15684060" 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 Char syndrome in the family reported by <a href="#3" class="mim-tip-reference" title="Mani, A., Radhakrishnan, J., Farhi, A., Carew, K. S., Warnes, C. A., Nelson-Williams, C., Day, R. W., Pober, B., State, M. W., Lifton, R. P. <strong>Syndromic patent ductus arteriosus : evidence for haploinsufficient TFAP2B mutations and identification of a linked sleep disorder.</strong> Proc. Nat. Acad. Sci. 102: 2975-2979, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15684060/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15684060</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15684060[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/10.1073/pnas.0409852102" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15684060">Mani et al. (2005)</a> was consistent with autosomal dominant inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15684060" 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="Satoda, M., Pierpont, M. E. M., Diaz, G. A., Bornemeier, R. A., Gelb, B. D. <strong>Char syndrome, an inherited disorder with patent ductus arteriosus, maps to chromosome 6p12-p21.</strong> Circulation 99: 3036-3042, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10368122/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10368122</a>] [<a href="https://doi.org/10.1161/01.cir.99.23.3036" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10368122">Satoda et al. (1999)</a> performed linkage analysis in 2 previously reported multigenerational kindreds with Char syndrome (<a href="#1" class="mim-tip-reference" title="Char, F. <strong>Peculiar facies with short philtrum, duck-bill lips, ptosis and low-set ears--a new syndrome?</strong> Birth Defects Orig. Art. Ser. XIV(6B): 303-305, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/728571/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">728571</a>]" pmid="728571">Char, 1978</a>; <a href="#8" class="mim-tip-reference" title="Sletten, L. J., Pierpont, M. E. M. <strong>Familial occurrence of patent ductus arteriosus.</strong> Am. J. Med. Genet. 57: 27-30, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7645594/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7645594</a>] [<a href="https://doi.org/10.1002/ajmg.1320570108" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7645594">Sletten and Pierpont, 1995</a>). Linkage was found with several polymorphic DNA markers mapping to 6p21-p12. A maximum 2-point lod score of 8.39 was observed with D6S1638 at theta = 0.00. Haplotype analysis identified recombinant events that defined the Char syndrome locus with high probability to a 3.1-cM region. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=728571+7645594+10368122" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#6" class="mim-tip-reference" title="Satoda, M., Zhao, F., Diaz, G. A., Burn, J., Goodship, J., Davidson, H. R., Pierpont, M. E. M., Gelb, B. D. <strong>Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus.</strong> Nature Genet. 25: 42-46, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10802654/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10802654</a>] [<a href="https://doi.org/10.1038/75578" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10802654">Satoda et al. (2000)</a> used a positional candidate gene strategy and mapped TFAP2B (<a href="/entry/601601">601601</a>), encoding a transcription factor expressing neural crest cells, to the Char syndrome critical region and identified heterozygous missense mutations altering conserved residues in 2 affected families (<a href="/entry/601601#0001">601601.0001</a>-<a href="/entry/601601#0002">601601.0002</a>). Mutant TFAP2B proteins dimerized properly in vitro but showed abnormal binding to TFAP2 target sequence. Dimerization of both mutants with normal TFAP2B adversely affected transactivation, demonstrating a dominant-negative mechanism. <a href="#6" class="mim-tip-reference" title="Satoda, M., Zhao, F., Diaz, G. A., Burn, J., Goodship, J., Davidson, H. R., Pierpont, M. E. M., Gelb, B. D. <strong>Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus.</strong> Nature Genet. 25: 42-46, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10802654/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10802654</a>] [<a href="https://doi.org/10.1038/75578" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10802654">Satoda et al. (2000)</a> concluded that their work shows that TFAP2B has a role in ductal, facial, and limb development and suggests that Char syndrome results from derangement of neural crest cell derivatives. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10802654" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Zhao, F., Weismann, C. G., Satoda, M., Pierpont, M. E. M., Sweeney, E., Thompson, E. M., Gelb, B. D. <strong>Novel TFAP2B mutations that cause Char syndrome provide a genotype-phenotype correlation.</strong> Am. J. Hum. Genet. 69: 695-703, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11505339/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11505339</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11505339[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/10.1086/323410" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11505339">Zhao et al. (2001)</a> studied 8 patients with Char syndrome and identified 4 novel mutations in the TFAP2B gene; 3 occurred in the basic domain (<a href="/entry/601601#0003">601601.0003</a>-<a href="/entry/601601#0005">601601.0005</a>) and the other affected a conserved PY motif in the transactivation domain (<a href="/entry/601601#0006">601601.0006</a>). <a href="#12" class="mim-tip-reference" title="Zhao, F., Weismann, C. G., Satoda, M., Pierpont, M. E. M., Sweeney, E., Thompson, E. M., Gelb, B. D. <strong>Novel TFAP2B mutations that cause Char syndrome provide a genotype-phenotype correlation.</strong> Am. J. Hum. Genet. 69: 695-703, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11505339/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11505339</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11505339[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/10.1086/323410" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11505339">Zhao et al. (2001)</a> found that all 4 mutations, as well as 2 previously identified mutations in the basic domain, had dominant-negative effects when expressed in eukaryotic cells. Affected individuals with the PY motif mutation had a high prevalence of patent ductus arteriosus, but only mild facial and hand abnormalities as compared to individuals with basic domain (DNA-binding) mutations. The authors concluded that this correlation supports the existence of TFAP2 coactivators that have tissue specificity and are important for ductal development but less critical for craniofacial and limb development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11505339" 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 large 3-generation family segregating autosomal dominant Char syndrome, <a href="#3" class="mim-tip-reference" title="Mani, A., Radhakrishnan, J., Farhi, A., Carew, K. S., Warnes, C. A., Nelson-Williams, C., Day, R. W., Pober, B., State, M. W., Lifton, R. P. <strong>Syndromic patent ductus arteriosus : evidence for haploinsufficient TFAP2B mutations and identification of a linked sleep disorder.</strong> Proc. Nat. Acad. Sci. 102: 2975-2979, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15684060/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15684060</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15684060[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/10.1073/pnas.0409852102" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15684060">Mani et al. (2005)</a> identified heterozygosity for a splice site mutation (<a href="/entry/601601#0007">601601.0007</a>) in the TFAP2B gene that segregated with disease in the family and was not found in 200 unrelated control chromosomes. In addition, heterozygosity for a different splice site mutation in TFAP2B was identified in an unrelated family with Char syndrome. The authors noted that in contrast to previously reported dominant-negative TFAP2B mutations in Char syndrome, the mechanism of disease in these 2 kindreds was likely to be haploinsufficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15684060" 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="https://doi.org/10.1136/jmg.30.6.503" target="_blank">Full Text</a>]
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Mani, A., Radhakrishnan, J., Farhi, A., Carew, K. S., Warnes, C. A., Nelson-Williams, C., Day, R. W., Pober, B., State, M. W., Lifton, R. P.
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<strong>Syndromic patent ductus arteriosus : evidence for haploinsufficient TFAP2B mutations and identification of a linked sleep disorder.</strong>
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Proc. Nat. Acad. Sci. 102: 2975-2979, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15684060/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15684060</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15684060[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=15684060" 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/10.1073/pnas.0409852102" target="_blank">Full Text</a>]
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Pierpoint, M. E., Sletten, L. J.
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<strong>Char syndrome: a cause of familial patent ductus arteriosus. (Abstract)</strong>
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Satoda, M., Pierpont, M. E. M., Diaz, G. A., Bornemeier, R. A., Gelb, B. D.
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<strong>Char syndrome, an inherited disorder with patent ductus arteriosus, maps to chromosome 6p12-p21.</strong>
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Circulation 99: 3036-3042, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10368122/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10368122</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10368122" 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/10.1161/01.cir.99.23.3036" target="_blank">Full Text</a>]
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Satoda, M., Zhao, F., Diaz, G. A., Burn, J., Goodship, J., Davidson, H. R., Pierpont, M. E. M., Gelb, B. D.
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<strong>Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus.</strong>
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Nature Genet. 25: 42-46, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10802654/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10802654</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10802654" 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/10.1038/75578" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9217229/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9217229</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9217229" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Sletten1995" class="mim-anchor"></a>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7645594/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7645594</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7645594" 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.1320570108" target="_blank">Full Text</a>]
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Sweeney, E., Fryer, A., Walters, M.
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<strong>Char syndrome: a new family and review of the literature emphasising (sic) the presence of symphalangism and the variable phenotype.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10955477/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10955477</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10955477" 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/10.1097/00019605-200009030-00005" target="_blank">Full Text</a>]
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<strong>Char syndrome (unusual mouth, patent ductus arteriosus, phalangeal anomalies).</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1342853/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1342853</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1342853" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Zannolli, R., Mostardini, R., Matera, M., Pucci, L., Gelb, B. D., Morgese, G.
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<strong>Char syndrome: an additional family with polythelia, a new finding.</strong>
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Am. J. Med. Genet. 95: 201-203, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11102923/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11102923</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11102923" 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/10.1002/1096-8628(20001127)95:3<201::aid-ajmg3>3.0.co;2-w" target="_blank">Full Text</a>]
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<a id="Zhao2001" class="mim-anchor"></a>
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Zhao, F., Weismann, C. G., Satoda, M., Pierpont, M. E. M., Sweeney, E., Thompson, E. M., Gelb, B. D.
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<strong>Novel TFAP2B mutations that cause Char syndrome provide a genotype-phenotype correlation.</strong>
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Am. J. Hum. Genet. 69: 695-703, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11505339/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11505339</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11505339[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=11505339" 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/10.1086/323410" target="_blank">Full Text</a>]
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Marla J. F. O'Neill - updated : 07/14/2016
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Deborah L. Stone - updated : 1/31/2002<br>Deborah L. Stone - updated : 11/6/2001<br>Victor A. McKusick - updated : 11/10/2000<br>Ada Hamosh - updated : 4/28/2000<br>Victor A. McKusick - updated : 1/31/2000<br>Victor A. McKusick - updated : 9/3/1997
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<span class="mim-text-font">
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Victor A. McKusick : 6/2/1986
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alopez : 02/01/2024
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alopez : 12/07/2023<br>carol : 07/11/2023<br>carol : 06/05/2019<br>carol : 06/04/2019<br>alopez : 10/10/2016<br>alopez : 07/14/2016<br>carol : 5/23/2016<br>terry : 4/9/2012<br>mgross : 12/10/2002<br>carol : 2/12/2002<br>terry : 1/31/2002<br>carol : 11/6/2001<br>carol : 11/13/2000<br>terry : 11/10/2000<br>terry : 4/28/2000<br>carol : 1/31/2000<br>carol : 1/31/2000<br>terry : 1/31/2000<br>terry : 5/5/1999<br>jenny : 9/9/1997<br>terry : 9/3/1997<br>mark : 7/12/1995<br>terry : 6/24/1995<br>mimadm : 1/14/1995<br>carol : 8/10/1993<br>supermim : 3/16/1992<br>supermim : 3/20/1990
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<span class="mim-font">
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<strong>#</strong> 169100
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CHAR SYNDROME; CHAR
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<em>Alternative titles; symbols</em>
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PATENT DUCTUS ARTERIOSUS WITH FACIAL DYSMORPHISM AND ABNORMAL FIFTH DIGITS
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<strong>SNOMEDCT:</strong> 703534001;
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<strong>ORPHA:</strong> 46627;
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<strong>DO:</strong> 0060563;
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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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<span class="mim-font">
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6p12.3
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Char syndrome
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<span class="mim-font">
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169100
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Autosomal dominant
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<span class="mim-font">
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3
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TFAP2B
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601601
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that Char syndrome (CHAR) is caused by heterozygous mutation in the TFAP2B (601601) gene on chromosome 6p12.</p>
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<span class="mim-font">
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<strong>Description</strong>
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<p>Char syndrome (CHAR) is an autosomal dominant disorder characterized by patent ductus arteriosus (PDA), facial dysmorphism, and abnormal fifth digits of the hands (summary by Satoda et al., 1999). </p>
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<strong>Clinical Features</strong>
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<p>Davidson (1993) described a large family in which 9 members in 6 sibships in 3 generations had patent ductus arteriosus (see 607411) in association with unusual facial features, namely, broad, high forehead, flat profile, and short nose with a broad, flattened tip. The facial features appeared to follow an autosomal dominant pedigree pattern with at least 1 instance of male-to-male transmission; PDA showed incomplete penetrance. PDA was reported by the family to be present in 2 other members, one of whom was said to have the facial features and one not. </p><p>Pierpoint and Sletten (1994) used the eponym Char syndrome for familial PDA with unusual facial features, including long philtrum, downslanting palpebral fissures, and thick lips. They reported a new family in which 7 members had PDA. Premature birth was not a factor in any of these individuals. PDA had been the only form of congenital heart anomaly present in family members except for one 8-year-old boy who had a small muscular ventricular septal defect. Three generations were affected in an autosomal dominant pedigree pattern.</p><p>Sletten and Pierpont (1995) observed 7 relatives in 5 sibships in 3 generations of a family with patent ductus arteriosus and a slightly unusual facial appearance with prominent midface with nose elongation and flattening of the nasal bridge, wide-set eyes, downturned palpebral fissures, mild ptosis, thick lips, and apparently slightly low-set ears. The pattern was consistent with autosomal dominant inheritance although no male-to-male transmission was observed. Sletten and Pierpont (1995) gave an extensive tabulation of reports of familial PDA. They pointed to the syndrome reported by Char (1978) in which patent ductus arteriosus was associated with a much more unusual facies with short philtrum, 'duck-bill' lips, ptosis, and low-set ears. Temple (1992) also described this syndrome, referring to it as Char syndrome. </p><p>Slavotinek et al. (1997) described a family with PDA, a distinctive facial appearance (eyebrow flare, short nose, and 'duck-bill' lips), polydactyly, and fifth finger clinodactyly. The facial features were considered consistent with CHAR syndrome. Seven members of 3 generations were affected, with 2 instances of male-to-male transmission. This was the first report of associated polydactyly that was interstitial in type. The foot of 1 patient with 2 toes attached to the fourth metatarsal was illustrated. Evolution of the phenotype with age was noted; the facial findings in older relatives were less pronounced and the 'duck-bill' lips less prominent. </p><p>Satoda et al. (1999) pictured characteristic facial features, including short philtrum, prominent lips, flat nasal bridge with upturned nares, and ptosis. They also illustrated the changes in the hand: absent fifth middle phalanges with hypoplasia of the fifth proximal and distal phalanges. </p><p>Zannolli et al. (2000) reported a father and daughter with Char syndrome. Both had the typical facial features as well as strabismus and foot anomalies. The daughter also had patent ductus arteriosus. Both patients had supernumerary nipples (163700), a finding not described before in Char syndrome. </p><p>Sweeney et al. (2000) reported a mother, son, and daughter with the typical facial features of Char syndrome. The son had symphalangism of the distal interphalangeal joints of the fifth fingers with loss of overlying skin creases and clinodactyly. The mother had similar digital features, and the daughter was said to have had them but was not personally examined by the authors. </p><p>Mani et al. (2005) studied a large 3-generation family with Char syndrome (family K144) in which there were 22 affected individuals, including 9 with PDA, facial dysmorphism, and clinodactyly, and 13 who showed dysmorphology and clinodactyly without PDA. In addition, there was 1 obligate carrier who was nonpenetrant for all features, and 1 infant died in the neonatal period from heart failure, with coarctation of the aorta, bicuspid aortic valve, and a large PDA. All 9 PDA patients, including the deceased infant, were born at term from a normal gestation, and were diagnosed between the neonatal period and age 30 years. Thus, in this family, PDA showed incomplete penetrance, whereas dysmorphic facies and clinodactyly showed evidence of high penetrance. Further evaluation of family members revealed additional features segregating with the disorder, including hypodontia in 14 affected individuals, who retained their primary teeth and either partially or completely lacked secondary teeth, and parasomnia in 13, involving sleepwalking associated with food-seeking behavior. There were also 10 affected family members who exhibited protuberant occipital bone with overlying coarse hair; in each case, the border of the occiput had a sharp ridge, suggestive of craniosynostosis. None of these additional features was observed in any unaffected family member. Mani et al. (2005) also studied an affected father and 2 daughters from an unrelated family with Char syndrome (family K145). All exhibited PDA, dysmorphic facies, and clinodactyly; the father's sister was also reported to be affected. Mani et al. (2005) noted that in addition to finger clinodactyly, affected members of both kindreds had varying degrees of clinodactyly of the fourth and fifth toes, and syndactyly of the fourth and fifth toes was seen in 4 affected individuals. </p>
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<h4>
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<span class="mim-font">
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<strong>Inheritance</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>The transmission pattern of Char syndrome in the family reported by Mani et al. (2005) was consistent with autosomal dominant inheritance. </p>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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<span class="mim-text-font">
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<p>Satoda et al. (1999) performed linkage analysis in 2 previously reported multigenerational kindreds with Char syndrome (Char, 1978; Sletten and Pierpont, 1995). Linkage was found with several polymorphic DNA markers mapping to 6p21-p12. A maximum 2-point lod score of 8.39 was observed with D6S1638 at theta = 0.00. Haplotype analysis identified recombinant events that defined the Char syndrome locus with high probability to a 3.1-cM region. </p>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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<span class="mim-text-font">
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<p>Satoda et al. (2000) used a positional candidate gene strategy and mapped TFAP2B (601601), encoding a transcription factor expressing neural crest cells, to the Char syndrome critical region and identified heterozygous missense mutations altering conserved residues in 2 affected families (601601.0001-601601.0002). Mutant TFAP2B proteins dimerized properly in vitro but showed abnormal binding to TFAP2 target sequence. Dimerization of both mutants with normal TFAP2B adversely affected transactivation, demonstrating a dominant-negative mechanism. Satoda et al. (2000) concluded that their work shows that TFAP2B has a role in ductal, facial, and limb development and suggests that Char syndrome results from derangement of neural crest cell derivatives. </p><p>Zhao et al. (2001) studied 8 patients with Char syndrome and identified 4 novel mutations in the TFAP2B gene; 3 occurred in the basic domain (601601.0003-601601.0005) and the other affected a conserved PY motif in the transactivation domain (601601.0006). Zhao et al. (2001) found that all 4 mutations, as well as 2 previously identified mutations in the basic domain, had dominant-negative effects when expressed in eukaryotic cells. Affected individuals with the PY motif mutation had a high prevalence of patent ductus arteriosus, but only mild facial and hand abnormalities as compared to individuals with basic domain (DNA-binding) mutations. The authors concluded that this correlation supports the existence of TFAP2 coactivators that have tissue specificity and are important for ductal development but less critical for craniofacial and limb development. </p><p>In a large 3-generation family segregating autosomal dominant Char syndrome, Mani et al. (2005) identified heterozygosity for a splice site mutation (601601.0007) in the TFAP2B gene that segregated with disease in the family and was not found in 200 unrelated control chromosomes. In addition, heterozygosity for a different splice site mutation in TFAP2B was identified in an unrelated family with Char syndrome. The authors noted that in contrast to previously reported dominant-negative TFAP2B mutations in Char syndrome, the mechanism of disease in these 2 kindreds was likely to be haploinsufficiency. </p>
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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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Char, F.
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<strong>Peculiar facies with short philtrum, duck-bill lips, ptosis and low-set ears--a new syndrome?</strong>
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Birth Defects Orig. Art. Ser. XIV(6B): 303-305, 1978.
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[PubMed: 728571]
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<p class="mim-text-font">
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Davidson, H. R.
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<strong>A large family with patent ductus arteriosus and unusual face.</strong>
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J. Med. Genet. 30: 503-505, 1993.
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[PubMed: 8326495]
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[Full Text: https://doi.org/10.1136/jmg.30.6.503]
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<li>
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<p class="mim-text-font">
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Mani, A., Radhakrishnan, J., Farhi, A., Carew, K. S., Warnes, C. A., Nelson-Williams, C., Day, R. W., Pober, B., State, M. W., Lifton, R. P.
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<strong>Syndromic patent ductus arteriosus : evidence for haploinsufficient TFAP2B mutations and identification of a linked sleep disorder.</strong>
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Proc. Nat. Acad. Sci. 102: 2975-2979, 2005.
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[PubMed: 15684060]
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[Full Text: https://doi.org/10.1073/pnas.0409852102]
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<li>
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<p class="mim-text-font">
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Pierpoint, M. E., Sletten, L. J.
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<strong>Char syndrome: a cause of familial patent ductus arteriosus. (Abstract)</strong>
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Am. J. Hum. Genet. 55 (suppl.): A89 only, 1994.
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<p class="mim-text-font">
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Satoda, M., Pierpont, M. E. M., Diaz, G. A., Bornemeier, R. A., Gelb, B. D.
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<strong>Char syndrome, an inherited disorder with patent ductus arteriosus, maps to chromosome 6p12-p21.</strong>
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Circulation 99: 3036-3042, 1999.
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[PubMed: 10368122]
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[Full Text: https://doi.org/10.1161/01.cir.99.23.3036]
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Satoda, M., Zhao, F., Diaz, G. A., Burn, J., Goodship, J., Davidson, H. R., Pierpont, M. E. M., Gelb, B. D.
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<strong>Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus.</strong>
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Slavotinek, A., Clayton-Smith, J., Super, M.
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Sletten, L. J., Pierpont, M. E. M.
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Sweeney, E., Fryer, A., Walters, M.
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Temple, I. K.
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<strong>Char syndrome (unusual mouth, patent ductus arteriosus, phalangeal anomalies).</strong>
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<strong>Char syndrome: an additional family with polythelia, a new finding.</strong>
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Zhao, F., Weismann, C. G., Satoda, M., Pierpont, M. E. M., Sweeney, E., Thompson, E. M., Gelb, B. D.
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<strong>Novel TFAP2B mutations that cause Char syndrome provide a genotype-phenotype correlation.</strong>
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[PubMed: 11505339]
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[Full Text: https://doi.org/10.1086/323410]
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