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Entry
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- #121050 - CONTRACTURAL ARACHNODACTYLY, CONGENITAL; CCA
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- OMIM
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<p>
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<span class="h4">#121050</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/121050"><strong>Clinical Synopsis</strong></a>
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<a href="/phenotypicSeries/PS108120"> <strong>Phenotypic Series</strong> </a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#mapping">Mapping</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#nomenclature">Nomenclature</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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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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</li>
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</ul>
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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 class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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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=CONTRACTURAL ARACHNODACTYLY, CONGENITAL" 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=1481&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/NBK1386/" 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/1796" 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/congenital-contractural-arachnodactyly" 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=121050[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=115" 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/3e23ac39-2fea-404a-8fc7-858f0925b42b/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>
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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:0111595" 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/121050" 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://wormbase.org/resources/disease/DOID:0111595" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Disease Ontology', 'domain': 'wormbase.org'})">Wormbase Disease Ontology</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:121050" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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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> 205821003<br />
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<strong>ORPHA:</strong> 115<br />
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<strong>DO:</strong> 0111595<br />
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">ICD+</a>
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</div>
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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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121050
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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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CONTRACTURAL ARACHNODACTYLY, CONGENITAL; CCA
|
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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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ARTHROGRYPOSIS, DISTAL, TYPE 9; DA9<br />
|
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BEALS SYNDROME
|
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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">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/5/413?start=-3&limit=10&highlight=413">
|
|
5q23.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Contractural arachnodactyly, congenital
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/121050"> 121050 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
FBN2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612570"> 612570 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/121050" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS108120" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/121050" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/121050" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GROWTH </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Other </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Dolichostenomelia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/62250003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">62250003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003706&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003706</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001166" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001166</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001519" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001519</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001519" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001519</a>]</span><br /> -
|
|
Marfanoid habitus <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836996&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836996</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001519" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001519</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001519" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001519</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Head </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Scaphocephaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/109418001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">109418001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.01" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.01</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0265534&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265534</a>, <a href="https://bioportal.bioontology.org/search?q=C0432123&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0432123</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030799" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030799</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0004442" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004442</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030799" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030799</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=b49d4ad3bcb5a39e5263c4f1d7454a3e" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Dolichocephaly-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=b49d4ad3bcb5a39e5263c4f1d7454a3e" 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 /> -
|
|
Brachycephaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13649004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13649004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221356&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221356</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000248" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000248</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000248" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000248</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9ccc4d161e106e4d5543286323f007ce" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Brachycephaly-Large-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9ccc4d161e106e4d5543286323f007ce" 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 /> -
|
|
Dolichocephaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/72239002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">72239002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221358&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221358</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000268" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000268</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000268" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000268</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=b49d4ad3bcb5a39e5263c4f1d7454a3e" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Dolichocephaly-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=b49d4ad3bcb5a39e5263c4f1d7454a3e" 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> Face </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Micrognathia (27%) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32958008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32958008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M26.04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M26.04</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/524.04" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">524.04</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0025990&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025990</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000347</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000347" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000347</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9149eccae19753e96defbd69602ab882" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Micrognathia-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9149eccae19753e96defbd69602ab882" 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 /> -
|
|
Frontal bossing <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/90145001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">90145001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221354&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221354</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002007</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=3ab8802347404fb5ebf087fa6440bb25" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Frontal_Bossing-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=3ab8802347404fb5ebf087fa6440bb25" 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">
|
|
|
|
- Crumpled ear (76%) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4024166&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4024166</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009901" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009901</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009901" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009901</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=ae243d1cf5184f5ac339aec99cc0c830" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Ear,Crumpled-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=ae243d1cf5184f5ac339aec99cc0c830" 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 /> -
|
|
Poorly defined conchae <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0857379&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0857379</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000377" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000377</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000377" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000377</a>]</span><br /> -
|
|
Prominent crura <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3276532&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3276532</a>]</span><br /> -
|
|
Folded helices <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1860792&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1860792</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
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<div>
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|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Ectopia lentis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/74969002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">74969002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q12.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q12.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/743.37" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.37</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013581&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013581</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001083" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001083</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001083" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001083</a>]</span><br /> -
|
|
Myopia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/57190000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">57190000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H52.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H52.1</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/367.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">367.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027092&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027092</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000545" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000545</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000545" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000545</a>]</span><br />
|
|
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|
</span>
|
|
</div>
|
|
</div>
|
|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Mouth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- High-arched palate (28%) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/27272007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">27272007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q38.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q38.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240635&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240635</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000218" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000218</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000218" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000218</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Neck </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Relatively short neck <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1852612&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1852612</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Heart </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Mitral valve prolapse <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/409712001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">409712001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8074002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8074002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026267&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026267</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001634" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001634</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001634" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001634</a>]</span><br /> -
|
|
Mitral regurgitation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48724000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48724000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026266&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026266</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001653" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001653</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001653" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001653</a>]</span><br /> -
|
|
Atrial septal defect <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253366007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253366007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405752007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405752007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/70142008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">70142008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q21.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q21.1</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q21.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q21.10</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018817&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018817</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001631" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001631</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001631" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001631</a>]</span><br /> -
|
|
Ventricular septal defect <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/30288003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">30288003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253549006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253549006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/768552007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">768552007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q21.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q21.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/745.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">745.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018818&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018818</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001629" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001629</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001629" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001629</a>]</span><br /> -
|
|
Bicuspid aortic valve <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/72352009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">72352009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q23.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q23.81</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5193127&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5193127</a>, <a href="https://bioportal.bioontology.org/search?q=C0149630&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0149630</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001647" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001647</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001647" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001647</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Vascular </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Patent ductus arteriosus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/83330001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">83330001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q25.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q25.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/747.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">747.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013274&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013274</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001643" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001643</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001643" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001643</a>]</span><br /> -
|
|
Aortic root dilatation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/251036003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">251036003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0238669&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0238669</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002616" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002616</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002616" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002616</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CHEST </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ribs Sternum Clavicles & Scapulae </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Pectus carinatum <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/205101001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">205101001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/38774000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">38774000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q67.7" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q67.7</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/754.82" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.82</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2939416&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2939416</a>, <a href="https://bioportal.bioontology.org/search?q=C0158731&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0158731</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000768" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000768</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000768" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000768</a>]</span><br />
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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>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
|
|
<span class="mim-font">
|
|
|
|
- Osteopenia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/312894000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">312894000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0029453&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0029453</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000938" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000938</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000938" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000938</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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<span class="h5 mim-font">
|
|
<em> Spine </em>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Congenital kyphoscoliosis (45%) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/405772002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">405772002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0345392&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0345392</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008453" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008453</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008453" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008453</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> Pelvis </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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|
|
- Hip contractures (25%) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/202283002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">202283002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M24.55" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M24.55</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0409354&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0409354</a>, <a href="https://bioportal.bioontology.org/search?q=C0019553&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019553</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003273" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003273</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003273" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003273</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> Limbs </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Elbow contractures (86%) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/239734000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">239734000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M24.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M24.52</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1833142&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1833142</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034391" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034391</a>]</span><br /> -
|
|
Knee contractures (81%) <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M24.56" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M24.56</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837263&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837263</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034671" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034671</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034671" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034671</a>]</span><br /> -
|
|
Subluxation of patella <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0857276&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0857276</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010499" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010499</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010499" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010499</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Hands </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Arachnodactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/62250003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">62250003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003706&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003706</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001166" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001166</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001519" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001519</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001166" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001166</a>]</span><br /> -
|
|
Camptodactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29271008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29271008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221369&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221369</a>, <a href="https://bioportal.bioontology.org/search?q=C0685409&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0685409</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012385" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012385</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012385" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012385</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=56cd131f7e4abed85662f1f7e23b10a2" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Camptodactyly-large-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=56cd131f7e4abed85662f1f7e23b10a2" 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 /> -
|
|
Ulnar deviation of fingers <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1293023007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1293023007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/367510009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">367510009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0231679&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0231679</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009465" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009465</a>]</span><br /> -
|
|
Adducted thumbs <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/205273005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">205273005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0431886&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0431886</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001181" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001181</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001181" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001181</a>]</span><br /> -
|
|
Flexion contractures of proximal interphalangeal joints <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/202281000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">202281000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0409348&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0409348</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100490" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100490</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100490" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100490</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Feet </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Metatarsus varus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/23568008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">23568008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.22" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.22</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/754.53" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.53</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0265647&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265647</a>, <a href="https://bioportal.bioontology.org/search?q=C4082169&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4082169</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001840" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001840</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001840" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001840</a>]</span><br /> -
|
|
Talipes equinovarus (32%) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/397932003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">397932003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1156475005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1156475005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.89" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.89</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/754.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009081&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009081</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001762" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001762</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001762" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001762</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
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</div>
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</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MUSCLE, SOFT TISSUES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Hypoplastic calf muscles <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3805450&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3805450</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008962" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008962</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008962" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008962</a>]</span><br />
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|
|
|
</span>
|
|
</div>
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|
|
</div>
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|
|
|
</div>
|
|
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|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Motor developmental delay <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1854301&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1854301</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001270</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001270" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001270</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
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|
|
|
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|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutation in the fibrillin 2 gene (FBN2, <a href="/entry/612570#0001">612570.0001</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimPhenotypicSeriesFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
<h5>
|
|
Arthrogryposis, distal
|
|
- <a href="/phenotypicSeries/PS108120">PS108120</a>
|
|
- 18 Entries
|
|
</h5>
|
|
</div>
|
|
</div>
|
|
|
|
<div class="row" style="margin-left: 0.125em; margin-right: 0.125em;">
|
|
<table class="table table-bordered table-condensed table-hover mim-table-padding">
|
|
<thead>
|
|
<tr>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Location</strong>
|
|
</th>
|
|
<th class="col-lg-5 col-md-5 col-sm-5 col-xs-6 text-nowrap">
|
|
<strong>Phenotype</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Inheritance</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />mapping key</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Phenotype<br />MIM number</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus</strong>
|
|
</th>
|
|
<th class="col-lg-1 col-md-1 col-sm-1 col-xs-1 text-nowrap">
|
|
<strong>Gene/Locus<br />MIM number</strong>
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/827?start=-3&limit=10&highlight=827"> 2q31.3-q32.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/187370"> Arthrogryposis, distal, type 10 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="2 - The disorder was placed on the map by statistical methods"> 2 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/187370"> 187370 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/187370"> DA10 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/187370"> 187370 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/2/1111?start=-3&limit=10&highlight=1111"> 2q37.1 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615065"> Arthrogryposis, distal, type 5D </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/615065"> 615065 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605896"> ECEL1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/605896"> 605896 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/5/413?start=-3&limit=10&highlight=413"> 5q23.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/121050"> Contractural arachnodactyly, congenital </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/121050"> 121050 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612570"> FBN2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/612570"> 612570 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/7/604?start=-3&limit=10&highlight=604"> 7q31.2 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620019"> ?Arthrogryposis, distal, type 11 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620019"> 620019 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/164860"> MET </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/164860"> 164860 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/172?start=-3&limit=10&highlight=172"> 9p13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/108120"> Arthrogryposis, distal, type 1A </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/108120"> 108120 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/190990"> TPM2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/190990"> 190990 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/9/172?start=-3&limit=10&highlight=172"> 9p13.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/108120"> Arthrogryposis, distal, type 2B4 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/108120"> 108120 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/190990"> TPM2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/190990"> 190990 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/65?start=-3&limit=10&highlight=65"> 11p15.5 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601680"> Arthrogryposis, distal, type 2B1 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/601680"> 601680 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/191043"> TNNI2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/191043"> 191043 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/67?start=-3&limit=10&highlight=67"> 11p15.5 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618435"> Arthrogryposis, distal, type 2B2 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/618435"> 618435 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600692"> TNNT3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600692"> 600692 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/geneMap/11/1095?start=-3&limit=10&highlight=1095"> 11q24.3 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620545"> Arthrogryposis, distal, type 12 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/620545"> 620545 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607509"> ADAMTS15 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
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<span class="mim-font">
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<a href="/entry/607509"> 607509 </a>
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<span class="mim-font">
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<a href="/geneMap/12/728?start=-3&limit=10&highlight=728"> 12q23.2 </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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<a href="/entry/614335"> Arthrogryposis, distal, type 1B </a>
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</span>
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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 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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<span class="mim-font">
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<a href="/entry/614335"> 614335 </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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<a href="/entry/160794"> MYBPC1 </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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<a href="/entry/160794"> 160794 </a>
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</span>
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</td>
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<tr>
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<span class="mim-font">
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<a href="/geneMap/16/353?start=-3&limit=10&highlight=353"> 16p11.2 </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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<a href="/entry/619110"> Arthrogryposis, distal, type 1C </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>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</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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<a href="/entry/619110"> 619110 </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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<a href="/entry/617378"> MYL11 </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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<a href="/entry/617378"> 617378 </a>
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</span>
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</td>
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</tr>
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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/17/223?start=-3&limit=10&highlight=223"> 17p13.1 </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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<a href="/entry/158300"> Trismus-pseudocamptodactyly syndrome </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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<a href="/entry/158300"> 158300 </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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<a href="/entry/160741"> MYH8 </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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<a href="/entry/160741"> 160741 </a>
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</span>
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</td>
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</tr>
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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/17/227?start=-3&limit=10&highlight=227"> 17p13.1 </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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<a href="/entry/618436"> Arthrogryposis, distal, type 2B3 (Sheldon-Hall) </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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<a href="/entry/618436"> 618436 </a>
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
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<a href="/entry/160720"> MYH3 </a>
|
|
</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/160720"> 160720 </a>
|
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</span>
|
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</td>
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</tr>
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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/17/227?start=-3&limit=10&highlight=227"> 17p13.1 </a>
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/193700"> Arthrogryposis, distal, type 2A (Freeman-Sheldon) </a>
|
|
</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>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
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<span class="mim-font">
|
|
<a href="/entry/193700"> 193700 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
<a href="/entry/160720"> MYH3 </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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<a href="/entry/160720"> 160720 </a>
|
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</span>
|
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</td>
|
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</tr>
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<tr>
|
|
<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/geneMap/18/56?start=-3&limit=10&highlight=56"> 18p11.22-p11.21 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/114300"> Arthrogryposis, distal, type 3 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/114300"> 114300 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613629"> PIEZO2 </a>
|
|
</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/613629"> 613629 </a>
|
|
</span>
|
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</td>
|
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</tr>
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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/18/56?start=-3&limit=10&highlight=56"> 18p11.22-p11.21 </a>
|
|
|
|
</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/108145"> Arthrogryposis, distal, type 5 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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|
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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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|
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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/108145"> 108145 </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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<a href="/entry/613629"> PIEZO2 </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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<a href="/entry/613629"> 613629 </a>
|
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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Not Mapped
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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/108200"> Arthrogryposis, distal, type 6 </a>
|
|
</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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|
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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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</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/108200"> 108200 </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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<a href="/entry/108200"> DA6 </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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<a href="/entry/108200"> 108200 </a>
|
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</span>
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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Not Mapped
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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/609128"> Arthrogryposis, distal, type 4 </a>
|
|
</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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</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/609128"> 609128 </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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<a href="/entry/609128"> DA4 </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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<a href="/entry/609128"> 609128 </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 class="text-right small">
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<a href="#mimPhenotypicSeriesFold" data-toggle="collapse">▲ Close</a>
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<br />
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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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</h4>
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<p>A number sign (#) is used with this entry because of evidence that congenital contractural arachnodactyly (CCA) is caused by heterozygous mutation in the gene encoding fibrillin-2 (FBN2; <a href="/entry/612570">612570</a>) on chromosome 5q23.</p><p>For a phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (<a href="/entry/108120">108120</a>).</p>
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<br />
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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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<strong>Description</strong>
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</h4>
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<p>Congenital contractural arachnodactyly (CCA) is a rare, autosomal dominant connective tissue disorder characterized by contractures, arachnodactyly, scoliosis, and crumpled ears (<a href="#17" class="mim-tip-reference" title="Hecht, F., Beals, R. K. <strong>'New' syndrome of congenital contractural arachnodactyly originally described by Marfan in 1896.</strong> Pediatrics 49: 574-579, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4552107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4552107</a>]" pmid="4552107">Hecht and Beals, 1972</a>). It shares overlapping features with Marfan syndrome (<a href="/entry/154700">154700</a>), which is caused by mutation in the gene encoding fibrillin-1 (FBN1; <a href="/entry/134797">134797</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4552107" 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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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>Clinical Features</strong>
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</h4>
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<p><a href="#5" class="mim-tip-reference" title="Beals, R. K., Hecht, F. <strong>Congenital contractural arachnodactyly: a heritable disorder of connective tissue.</strong> J. Bone Joint Surg. Am. 53: 987-993, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5557609/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5557609</a>]" pmid="5557609">Beals and Hecht (1971)</a> described father and 2 sons affected in 1 kindred and father, daughter and son (by different mothers) affected in a second kindred. They proposed that the disorder be called 'contractural arachnodactyly' and further suggested that the patient reported by <a href="#25" class="mim-tip-reference" title="Marfan, M. A. B. <strong>Un cas de deformation congenitale des quatre membres plus prononcee aux extremites, caracterisee par l'allongement des os avec un certain degre d'amincissement.</strong> Bull. Mem. Soc. Med. Hop. Paris 13: 220-226, 1896."None>Marfan (1896)</a> had this disorder rather than the Marfan syndrome (<a href="/entry/154700">154700</a>) as presently delineated (<a href="#17" class="mim-tip-reference" title="Hecht, F., Beals, R. K. <strong>'New' syndrome of congenital contractural arachnodactyly originally described by Marfan in 1896.</strong> Pediatrics 49: 574-579, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4552107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4552107</a>]" pmid="4552107">Hecht and Beals, 1972</a>). They found several other reports, apparently of the same disorder. <a href="#7" class="mim-tip-reference" title="Beyer, P., Klein, M. L., Iszepy, E. <strong>Maladie de Marfan avec raideurs articulaires importantes atteignant les quatre enfants de la meme fratrie et leur mere.</strong> Arch. Franc. Pediat. 22: 210-216, 1965.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14335780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14335780</a>]" pmid="14335780">Beyer et al. (1965)</a> probably described the same condition in a mother and 4 children and some of the reports of combined Marfan syndrome and arthrogryposis multiplex congenita may be further examples (e.g., <a href="#33" class="mim-tip-reference" title="Reeve, R., Silver, H. K., Ferrier, P. <strong>Marfan's syndrome (arachnodactyly) with arthrogryposis (amyoplasia congenita).</strong> Am. J. Dis. Child. 99: 101-106, 1960.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14436927/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14436927</a>] [<a href="https://doi.org/10.1001/archpedi.1960.02070030103018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14436927">Reeve et al., 1960</a>; <a href="#20" class="mim-tip-reference" title="Kingsley-Pillers, E. M. <strong>Arachnodactyly with amyoplasia congenita.</strong> Proc. Roy. Soc. Med. 39: 696-697, 1946.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21065304/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21065304</a>]" pmid="21065304">Kingsley-Pillers, 1946</a>). <a href="#13" class="mim-tip-reference" title="Epstein, C. J., Graham, C. B., Hodgkin, W. E., Hecht, F., Motulsky, A. G. <strong>Hereditary dysplasia of bone with kyphoscoliosis, contractures, and abnormally shaped ears.</strong> J. Pediat. 73: 379-386, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5667420/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5667420</a>] [<a href="https://doi.org/10.1016/s0022-3476(68)80115-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5667420">Epstein et al. (1968)</a> described father and son with a connective tissue disorder with some features suggesting the Marfan syndrome and some suggesting osteogenesis imperfecta. Severe kyphoscoliosis, generalized osteopenia, flexion contractures of the fingers and abnormally shaped ears were among the characteristics. Abnormally shaped ('crumpled') ears have been emphasized by other students of CCA. According to <a href="#26" class="mim-tip-reference" title="Mirise, R. T., Shear, S. <strong>Congenital contractual arachnodactyly: description of a new kindred.</strong> Arthritis Rheum. 22: 542-546, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/444317/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">444317</a>] [<a href="https://doi.org/10.1002/art.1780220516" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="444317">Mirise and Shear (1979)</a>, the ocular and cardiovascular complications of the Marfan syndrome do not occur in contractural arachnodactyly (<a href="#26" class="mim-tip-reference" title="Mirise, R. T., Shear, S. <strong>Congenital contractual arachnodactyly: description of a new kindred.</strong> Arthritis Rheum. 22: 542-546, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/444317/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">444317</a>] [<a href="https://doi.org/10.1002/art.1780220516" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="444317">Mirise and Shear, 1979</a>). Hence, the correct diagnosis has prognostic significance. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21065304+4552107+5557609+5667420+14436927+14335780+444317" 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="Bass, H. N., Sparkes, R. S., Crandall, B. F., Marcy, S. M. <strong>Congenital contractural arachnodactyly, keratoconus, and probable Marfan syndrome in the same pedigree.</strong> J. Pediat. 98: 591-593, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7205489/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7205489</a>] [<a href="https://doi.org/10.1016/s0022-3476(81)80771-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7205489">Bass et al. (1981)</a> described CCA and Marfan syndrome in the same family. CCA was, however, the predominant finding in 4 generations of the family; the father of the propositus had keratoconus in addition to CCA. <a href="#31" class="mim-tip-reference" title="Pyeritz, R. E. <strong>Personal Communication.</strong> Baltimore, Md. 4/28/1986."None>Pyeritz (1986)</a> described several patients who had joint contractures and ear changes in the pinna seemingly characteristic of CCA but severe aortic changes typical of the Marfan syndrome. <a href="#4" class="mim-tip-reference" title="Bawle, E., Quigg, M. H. <strong>Ectopia lentis and aortic root dilatation in congenital contractural arachnodactyly.</strong> Am. J. Med. Genet. 42: 19-21, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1308360/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1308360</a>] [<a href="https://doi.org/10.1002/ajmg.1320420106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1308360">Bawle and Quigg (1992)</a> described a black male with 'crumpled ear' deformity, scoliosis, and arachnodactyly, who had dilatation of the aortic root and ectopia lentis. They pointed to the patient of <a href="#33" class="mim-tip-reference" title="Reeve, R., Silver, H. K., Ferrier, P. <strong>Marfan's syndrome (arachnodactyly) with arthrogryposis (amyoplasia congenita).</strong> Am. J. Dis. Child. 99: 101-106, 1960.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14436927/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14436927</a>] [<a href="https://doi.org/10.1001/archpedi.1960.02070030103018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14436927">Reeve et al. (1960)</a>, an infant described as having 'Marfan syndrome and arthrogryposis,' who showed ectopia lentis in the right eye and in whom autopsy showed dilatation of the ascending aorta. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1308360+14436927+7205489" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Anderson, R. A., Koch, S., Camerini-Otero, R. D. <strong>Cardiovascular findings in congenital contractural arachnodactyly: report of an affected kindred.</strong> Am. J. Med. Genet. 18: 265-271, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6465201/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6465201</a>] [<a href="https://doi.org/10.1002/ajmg.1320180210" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6465201">Anderson et al. (1984)</a> reported a kindred in which many members of 3 generations showed features consistent with CCA. Of the 7 affected persons they examined, 6 had mitral valve prolapse. Family members without CCA did not have mitral valve prolapse. Although enlargement of the aortic root was not found, a 9-year-old girl was said to have 'an aortic diameter at the upper limits of normal.' <a href="#15" class="mim-tip-reference" title="Gruber, M. A., Graham, T. P., Jr., Engel, E., Smith, C. <strong>Marfan syndrome with contractural arachnodactyly and severe mitral regurgitation in a premature infant.</strong> J. Pediat. 93: 80-82, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/650351/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">650351</a>] [<a href="https://doi.org/10.1016/s0022-3476(78)80608-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="650351">Gruber et al. (1978)</a> described severe mitral regurgitation in a premature infant with CCA. Reviewing 4 new families and 29 reported ones, <a href="#32" class="mim-tip-reference" title="Ramos Arroyo, M. A., Weaver, D. D., Beals, R. K. <strong>Congenital contractural arachnodactyly: report of four additional families and review of literature.</strong> Clin. Genet. 27: 570-581, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4017278/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4017278</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1985.tb02042.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4017278">Ramos Arroyo et al. (1985)</a> stated that no ocular problems and no aortic problems have been encountered but that congenital heart defects have occurred 'in 14.7%.' Mitral regurgitation is a well-established feature of CCA; involvement of the aorta remains to be documented. Involvement of the eyes is also unclear. <a href="#18" class="mim-tip-reference" title="Huggon, I. C., Burke, J. P., Talbot, J. F. <strong>Contractural arachnodactyly with mitral regurgitation and iridodonesis.</strong> Arch. Dis. Child. 65: 317-319, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2334215/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2334215</a>] [<a href="https://doi.org/10.1136/adc.65.3.317" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2334215">Huggon et al. (1990)</a> described an infant girl with CCA complicated by mitral regurgitation. Although slit-lamp biomicroscopy showed no evidence of lens subluxation, the infant had iridodonesis apparently caused by anterior megalophthalmos. <a href="#21" class="mim-tip-reference" title="Langenskiold, A. <strong>Congenital contractural arachnodactyly: report of a case and of an operation for knee contracture.</strong> J. Bone Joint Surg. Br. 67: 44-46, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3968142/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3968142</a>] [<a href="https://doi.org/10.1302/0301-620X.67B1.3968142" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3968142">Langenskiold (1985)</a> reported a case he followed for 37 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4017278+2334215+3968142+6465201+650351" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Currarino, G., Friedman, J. M. <strong>A severe form of congenital contractural arachnodactyly in two newborn infants.</strong> Am. J. Med. Genet. 25: 763-773, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3789025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3789025</a>] [<a href="https://doi.org/10.1002/ajmg.1320250414" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3789025">Currarino and Friedman (1986)</a> described 2 unrelated infants with severe CCA, both of whom died in the first year of life. <a href="#9" class="mim-tip-reference" title="Cole, T. R. P., Hughes, H. E. <strong>Congenital contractural arachnodactyly with unilateral lower limb deficiency.</strong> Am. J. Med. Genet. 44: 72-74, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1519656/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1519656</a>] [<a href="https://doi.org/10.1002/ajmg.1320440117" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1519656">Cole and Hughes (1992)</a> described an infant with presumed CCA who also had deficiency in the right lower limb. <a href="#35" class="mim-tip-reference" title="Viljoen, D., Ramesar, R., Behari, D. <strong>Beals syndrome: clinical and molecular investigations in a kindred of Indian descent.</strong> Clin. Genet. 39: 181-188, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1674682/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1674682</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1991.tb03009.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1674682">Viljoen et al. (1991)</a> observed 8 affected persons in a family of Asiatic Indian descent. No linkage could be demonstrated with type I collagen probes (<a href="/entry/120150">120150</a>, <a href="/entry/120160">120160</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1519656+3789025+1674682" 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="#36" class="mim-tip-reference" title="Viljoen, D. <strong>Congenital contractural arachnodactyly (Beals syndrome).</strong> J. Med. Genet. 31: 640-643, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7815423/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7815423</a>] [<a href="https://doi.org/10.1136/jmg.31.8.640" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7815423">Viljoen (1994)</a> published a review that included at least 40 families with more than 120 affected members with CCA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7815423" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Comparison of CCA and Marfan Syndrome</em></strong></p><p>
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<a href="#39" class="mim-tip-reference" title="Zhang, H., Apfelroth, S. D., Hu, W., Davis, E. C., Sanguineti, C., Bonadio, J., Mecham, R. P., Ramirez, F. <strong>Structure and expression of fibrillin-2, a novel microfibrillar component preferentially located in elastic matrices.</strong> J. Cell Biol. 124: 855-863, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8120105/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8120105</a>] [<a href="https://doi.org/10.1083/jcb.124.5.855" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8120105">Zhang et al. (1994)</a> showed differences of expression of fibrillin-1 and fibrillin-2 in human ear cartilage. They noted that this may account for the fact that abnormally shaped (i.e., crumpled) auricular helices are a hallmark of CCA. Most persons with Marfan syndrome do not have abnormally shaped ears, although some with neonatal Marfan syndrome may have crumpled ears (<a href="#14" class="mim-tip-reference" title="Godfrey, M., Raghunath, M., Cisler, J., Bevins, C. L., DePaepe, A., Di Rocco, M., Gregoritch, J., Imaizumi, K., Kaplan, P., Kuroki, Y., Silberbach, M., Superti-Furga, A., Van Thienen, M.-N., Vetter, U., Steinmann, B. <strong>Abnormal morphology of fibrillin microfibrils in fibroblast cultures from patients with neonatal Marfan syndrome.</strong> Am. J. Path. 146: 1414-1421, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7778680/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7778680</a>]" pmid="7778680">Godfrey et al., 1995</a>). Similarities between neonatal Marfan syndrome and severe lethal CCA include arachnodactyly, joint contractures, and some facial characteristics. Importantly, although both have severe cardiovascular abnormalities that lead to very early death, the specific cardiac changes are quite different. <a href="#37" class="mim-tip-reference" title="Wang, M., Clericuzio, C. L., Godfrey, M. <strong>Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2.</strong> Am. J. Hum. Genet. 59: 1027-1034, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8900230/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8900230</a>]" pmid="8900230">Wang et al. (1996)</a> tabulated the differences between the 2 syndromes with valvular insufficiency and aortic root dilatation in neonatal Marfan syndrome and structural defects in severe lethal CCA; scoliosis and vertebral anomalies predominantly in CCA; and duodenal atresia, esophageal atresia, and intestinal malrotation only in CCA. <a href="#40" class="mim-tip-reference" title="Zhang, H., Hu, W., Ramirez, F. <strong>Developmental expression of fibrillin genes suggests heterogeneity of extracellular microfibrils.</strong> J. Cell Biol. 129: 1165-1176, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7744963/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7744963</a>] [<a href="https://doi.org/10.1083/jcb.129.4.1165" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7744963">Zhang et al. (1995)</a> suggested that expression of fibrillin-2 directs the assembly of elastic fibers during early embryogenesis, whereas fibrillin-1 provides the major structural (i.e., load bearing) function of the microfibrils. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8900230+8120105+7744963+7778680" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In cloning the fibrillin gene (FBN1; <a href="/entry/134797">134797</a>), located on chromosome 15 and mutant in the Marfan syndrome, <a href="#22" class="mim-tip-reference" title="Lee, B., Godfrey, M., Vitale, E., Hori, H., Mattei, M.-G., Sarfarazi, M., Tsipouras, P., Ramirez, F., Hollister, D. W. <strong>Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes.</strong> Nature 352: 330-334, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1852206/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1852206</a>] [<a href="https://doi.org/10.1038/352330a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1852206">Lee et al. (1991)</a> isolated a cDNA for a second fibrillin locus, fibrillin-2 (FBN2; <a href="/entry/612570">612570</a>). Study of 2 families with CCA demonstrated linkage between the phenotype and FBN2; maximal combined lod score = 4.5 at theta = 0.00. For demonstrating linkage, a VNDR (variable number dinucleotide repeat) related to the FBN2 gene was used as the marker. The FBN2 gene was mapped to 5q23-q31 by in situ hybridization. The linkage between a candidate gene and a disease locus, although highly suggestive, does not constitute final proof of causal relationship. In this case, however, linkage between 2 structurally related genes (FBN1 and FBN2) and 2 phenotypically related disorders (Marfan syndrome and CCA, respectively) gave strong support to the causal association. Identification of mutations in the FBN2 gene in cases of CCA was required for final proof. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1852206" 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 CCA in the patients reported by <a href="#28" class="mim-tip-reference" title="Putnam, E. A., Milewicz, D. M. <strong>A mutation in the FBN2 gene in dermal fibroblasts from a congenital contractural arachnodactyly patient. (Abstract)</strong> Am. J. Hum. Genet. 57: A225, 1995."None>Putnam and Milewicz (1995)</a> and <a href="#38" class="mim-tip-reference" title="Wang, M., Tsipouras, P., Godfrey, M. <strong>Fibrillin-2 (FBN2) mutation in congenital contractural arachnodactyly. (Abstract)</strong> Am. J. Hum. Genet. 57: A231, 1995."None>Wang et al. (1995)</a> was consistent with autosomal dominant inheritance.</p>
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<p><a href="#28" class="mim-tip-reference" title="Putnam, E. A., Milewicz, D. M. <strong>A mutation in the FBN2 gene in dermal fibroblasts from a congenital contractural arachnodactyly patient. (Abstract)</strong> Am. J. Hum. Genet. 57: A225, 1995."None>Putnam and Milewicz (1995)</a> and <a href="#38" class="mim-tip-reference" title="Wang, M., Tsipouras, P., Godfrey, M. <strong>Fibrillin-2 (FBN2) mutation in congenital contractural arachnodactyly. (Abstract)</strong> Am. J. Hum. Genet. 57: A231, 1995."None>Wang et al. (1995)</a> identified heterozygous point mutations in the FBN2 gene in cases of CCA. A mutation in a calcium-binding EGF-like motif (<a href="/entry/612570#0001">612570.0001</a>) was found by the first authors and a mutation in a TGF-binding protein-like motif (<a href="/entry/612570#0002">612570.0002</a>) by the second group.</p><p>In the father of 2 sibs affected with CCA, <a href="#29" class="mim-tip-reference" title="Putnam, E. A., Park, E.-S., Aalfs, C. M., Hennekam, R. C. M., Milewicz, D. M. <strong>Parental somatic and germ-line mosaicism for a FBN2 mutation and analysis of FBN2 transcript levels in dermal fibroblasts.</strong> Am. J. Hum. Genet. 60: 818-827, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9106527/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9106527</a>]" pmid="9106527">Putnam et al. (1997)</a> demonstrated somatic mosaicism for an FBN2 mutation. The 2 sisters had been reported by <a href="#11" class="mim-tip-reference" title="Delemarre-van de Waal, H. A., van Benthem, L. H. B. M., Bleeker-Wagemakers, E. M. <strong>Congenitale contracturele arachnodactylie.</strong> Ned. Tijdschr. Geneeskd. 124: 348-351, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7053184/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7053184</a>]" pmid="7053184">Delemarre-van de Waal et al. (1980)</a>. The proband had arachnodactyly, contractures, crumpled ears, a highly arched palate, and mild retrognathia evident at birth. From the age of 4 years she had progressive thoracolumbar scoliosis, which required surgical correction at the age of 13 years. At 18 years of age, she was 173 cm tall, had crumpled ears, a preauricular tag on the right side, a low posterior hairline, slight bilateral ptosis, and mild retrognathia. She also had striae on her thighs, mild pectus carinatum, arachnodactyly, and contractures of elbows, knees, and fingers. Echocardiogram and ophthalmologic examinations were normal. The sister showed similar findings at birth. Like the sister she had normal mental development but delayed motor development. At 21 years of age, she was 176 cm tall and had crumpled ears, slight midthoracic scoliosis, striae on the upper thighs, arachnodactyly, and contractures. Echocardiogram and ophthalmologic examinations were normal. Both parents were unaffected. <a href="#29" class="mim-tip-reference" title="Putnam, E. A., Park, E.-S., Aalfs, C. M., Hennekam, R. C. M., Milewicz, D. M. <strong>Parental somatic and germ-line mosaicism for a FBN2 mutation and analysis of FBN2 transcript levels in dermal fibroblasts.</strong> Am. J. Hum. Genet. 60: 818-827, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9106527/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9106527</a>]" pmid="9106527">Putnam et al. (1997)</a> noted that the mutation (<a href="/entry/612570#0005">612570.0005</a>), resulting in abnormal splicing of the exon, was an unusual alteration that disrupted the invariant A in a putative branch point sequence found in the upstream intron. Exon 29 was deleted in the mutant allele. Analysis of FBN2 transcript levels by use of fibroblasts from one of the affected sibs indicated that the allele inherited from the mother, which did not contain the exon splicing mutation, was reduced in expression. This difference in FBN2 allele expression levels was also observed in CCA cell strains with previously characterized mutations, which showed greater expression of the mutated alleles (<a href="#30" class="mim-tip-reference" title="Putnam, E. A., Zhang, H., Ramirez, F., Milewicz, D. M. <strong>Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly.</strong> Nature Genet. 11: 456-458, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7493032/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7493032</a>] [<a href="https://doi.org/10.1038/ng1295-456" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7493032">Putnam et al., 1995</a>). These data expanded the spectrum of mutations that cause CCA. <a href="#29" class="mim-tip-reference" title="Putnam, E. A., Park, E.-S., Aalfs, C. M., Hennekam, R. C. M., Milewicz, D. M. <strong>Parental somatic and germ-line mosaicism for a FBN2 mutation and analysis of FBN2 transcript levels in dermal fibroblasts.</strong> Am. J. Hum. Genet. 60: 818-827, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9106527/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9106527</a>]" pmid="9106527">Putnam et al. (1997)</a> suggested that the effects of mutations on fibrillin-2 are similar to those observed in fibrillin-1 and Marfan syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7493032+9106527+7053184" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#27" class="mim-tip-reference" title="Park, E.-S., Putnam, E. A., Chitayat, D., Child, A., Milewicz, D. M. <strong>Clustering of FBN2 mutations in patients with congenital contractural arachnodactyly indicates an important role of the domains encoded by exons 24 through 34 during human development.</strong> Am. J. Med. Genet. 78: 350-355, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9714438/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9714438</a>]" pmid="9714438">Park et al. (1998)</a> identified FBN2 mutations in 6 of 12 unrelated CCA patient cell strains. All of the identified mutations were clustered in a limited region of the gene, a region corresponding to that in FBN1 where mutations produce the severe, congenital form of Marfan syndrome, so-called neonatal Marfan syndrome. Furthermore, 3 of the identified mutations occurred in the FBN2 locations exactly corresponding to FBN1 mutations that had been reported in cases of neonatal Marfan syndrome. These mutations indicate that this central region of both fibrillins plays a critical role in human embryogenesis. The limited region of FBN2 that can be mutated to cause CCA may also help explain the rarity of CCA compared to Marfan syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9714438" 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="#6" class="mim-tip-reference" title="Belleh, S., Zhou, G., Wang, M., Der Kaloustian, V. M., Pagon, R. A., Godfrey, M. <strong>Two novel fibrillin-2 mutations in congenital contractural arachnodactyly.</strong> Am. J. Med. Genet. 92: 7-12, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10797416/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10797416</a>]" pmid="10797416">Belleh et al. (2000)</a> reported 2 additional FBN2 mutations in CCA: C1141F in exon 26 (<a href="/entry/612570#0008">612570.0008</a>) and C1252W in exon 29 (<a href="/entry/612570#0009">612570.0009</a>). As in previous cases, mutations clustered in the region of fibrillin-2 homologous to the so-called neonatal Marfan syndrome region of fibrillin-1 (FBN1; <a href="/entry/134797">134797</a>) (<a href="#19" class="mim-tip-reference" title="Kainulainen, K., Karttunen, L., Puhakka, L., Sakai, L., Peltonen, L. <strong>Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome.</strong> Nature Genet. 6: 64-69, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8136837/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8136837</a>] [<a href="https://doi.org/10.1038/ng0194-64" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8136837">Kainulainen et al., 1994</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10797416+8136837" 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="#16" class="mim-tip-reference" title="Gupta, P. A., Putnam, E. A., Carmical, S. G., Kaitila, I., Steinmann, B., Child, A., Danesino, C., Metcalfe, K., Berry, S. A., Chen, E., Delorme, C. V., Thong, M.-K., Ades, L. C., Milewicz, D. M. <strong>Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype.</strong> Hum. Mutat. 19: 39-48, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11754102/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11754102</a>] [<a href="https://doi.org/10.1002/humu.10017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11754102">Gupta et al. (2002)</a> noted that all of the identified CCA mutations in FBN2 cluster in a limited region similar to that where severe Marfan syndrome mutations cluster in FBN1, specifically between exons 23 and 34. <a href="#16" class="mim-tip-reference" title="Gupta, P. A., Putnam, E. A., Carmical, S. G., Kaitila, I., Steinmann, B., Child, A., Danesino, C., Metcalfe, K., Berry, S. A., Chen, E., Delorme, C. V., Thong, M.-K., Ades, L. C., Milewicz, D. M. <strong>Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype.</strong> Hum. Mutat. 19: 39-48, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11754102/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11754102</a>] [<a href="https://doi.org/10.1002/humu.10017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11754102">Gupta et al. (2002)</a> screened exons 22 through 36 of FBN2 for mutations in 13 patients with classic CCA by single-stranded conformation polymorphism analysis followed by direct sequencing. They successfully identified 10 novel mutations in this critical region of FBN2 in these patients, indicating a mutation detection rate of 75% in this region. None of these identified FBN2 mutations alter amino acids in the calcium-binding consensus sequence in the EGF-like domains, whereas many of the FBN1 mutations alter the consensus sequence. <a href="#16" class="mim-tip-reference" title="Gupta, P. A., Putnam, E. A., Carmical, S. G., Kaitila, I., Steinmann, B., Child, A., Danesino, C., Metcalfe, K., Berry, S. A., Chen, E., Delorme, C. V., Thong, M.-K., Ades, L. C., Milewicz, D. M. <strong>Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype.</strong> Hum. Mutat. 19: 39-48, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11754102/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11754102</a>] [<a href="https://doi.org/10.1002/humu.10017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11754102">Gupta et al. (2002)</a> reviewed the 21 known CAA mutations in the FBN2 gene, along with available clinical information on the probands. They found that 3 of the 21 patients had dilatation of the aortic root. All 3 were young, and the degree of dilatation appeared to have been borderline in all. However, because of the lack of knowledge of the natural history of aortic involvement in CCA, <a href="#16" class="mim-tip-reference" title="Gupta, P. A., Putnam, E. A., Carmical, S. G., Kaitila, I., Steinmann, B., Child, A., Danesino, C., Metcalfe, K., Berry, S. A., Chen, E., Delorme, C. V., Thong, M.-K., Ades, L. C., Milewicz, D. M. <strong>Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype.</strong> Hum. Mutat. 19: 39-48, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11754102/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11754102</a>] [<a href="https://doi.org/10.1002/humu.10017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11754102">Gupta et al. (2002)</a> recommended that all CCA patients have an echocardiogram. They cited <a href="#34" class="mim-tip-reference" title="Su, P.-H., Hou, J.-W., Hwu, W.-L., Wu, M.-H., Wang, J.-K., Wang, T.-R. <strong>Congenital contractural arachnodactyly (Beals syndrome).</strong> Acta Paediat. Taiwan 41: 59-62, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10927940/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10927940</a>]" pmid="10927940">Su et al. (2000)</a> as indicating that approximately 15% of CCA patients have congenital heart defects. Their review did not support this conclusion, instead suggesting that congenital heart defects are only an occasional finding in these patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11754102+10927940" 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="#8" class="mim-tip-reference" title="Chaudhry, S. S., Gazzard, J., Baldock, C., Dixon, J., Rock, M. J., Skinner, G. C., Steel, K. P., Kielty, C. M., Dixon, M. J. <strong>Mutation of the gene encoding fibrillin-2 results in syndactyly in mice.</strong> Hum. Molec. Genet. 10: 835-843, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11285249/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11285249</a>] [<a href="https://doi.org/10.1093/hmg/10.8.835" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11285249">Chaudhry et al. (2001)</a> analyzed the classic mouse mutant 'Shaker-with-syndactylism' (sy) using a positional candidate approach. The authors demonstrated that several loss-of-function mutations, each located outside the 'neonatal region' of Fbn2, caused syndactyly in mice, rather than CCA as in man. The deafness in these animals is caused by mutations in the contiguous Na-K-2Cl cotransporter gene Slc12a2 (<a href="/entry/600840">600840</a>) (<a href="#12" class="mim-tip-reference" title="Dixon, M. J., Gazzard, J., Chaudhry, S. S., Sampson, N., Schulte, B. A., Steel, K. P. <strong>Mutation of the Na-K-Cl co-transporter gene Slc12a2 results in deafness in mice.</strong> Hum. Molec. Genet. 8: 1579-1584, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10401008/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10401008</a>] [<a href="https://doi.org/10.1093/hmg/8.8.1579" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10401008">Dixon et al., 1999</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11285249+10401008" 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="#Lipson1974" class="mim-tip-reference" title="Lipson, E. H., Viseskul, C., Herrmann, J. <strong>The clinical spectrum of congenital contractural arachnodactyly: a case with congenital heart disease.</strong> Z. Kinderheilk. 118: 1-8, 1974.">Lipson et al. (1974)</a>; <a href="#Lowry1972" class="mim-tip-reference" title="Lowry, R. B., Guichon, V. C. <strong>Congenital contractural arachnodactyly: a syndrome simulating Marfan's syndrome.</strong> Canad. Med. Assoc. J. 107: 531-533, 1972.">Lowry and Guichon (1972)</a>
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[<a href="https://doi.org/10.1002/ajmg.1320180210" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(81)80771-8" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320420106" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/10.8.835" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320440117" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320250414" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/8.8.1579" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(68)80115-5" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/humu.10017" target="_blank">Full Text</a>]
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<strong>Structure and expression of fibrillin-2, a novel microfibrillar component preferentially located in elastic matrices.</strong>
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J. Cell Biol. 124: 855-863, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8120105/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8120105</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8120105" 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/10.1083/jcb.124.5.855" target="_blank">Full Text</a>]
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<a id="40" class="mim-anchor"></a>
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<a id="Zhang1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zhang, H., Hu, W., Ramirez, F.
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<strong>Developmental expression of fibrillin genes suggests heterogeneity of extracellular microfibrils.</strong>
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J. Cell Biol. 129: 1165-1176, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7744963/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7744963</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7744963" 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/10.1083/jcb.129.4.1165" target="_blank">Full Text</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 12/29/2004
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Victor A. McKusick - updated : 1/15/2002<br>George E. Tiller - updated : 7/23/2001<br>Victor A. McKusick - updated : 4/25/2000<br>Victor A. McKusick - updated : 9/1/1998<br>Victor A. McKusick - updated : 8/19/1998<br>Victor A. McKusick - updated : 6/17/1997<br>Victor A. McKusick - updated : 6/12/1997
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 6/23/1986
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carol : 07/18/2023
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carol : 07/13/2023<br>carol : 05/21/2019<br>alopez : 09/20/2011<br>terry : 1/13/2011<br>carol : 2/2/2009<br>carol : 2/2/2009<br>carol : 1/3/2005<br>ckniffin : 12/29/2004<br>joanna : 3/17/2004<br>terry : 3/27/2002<br>carol : 1/19/2002<br>mcapotos : 1/17/2002<br>terry : 1/15/2002<br>cwells : 7/27/2001<br>cwells : 7/23/2001<br>carol : 8/1/2000<br>carol : 8/1/2000<br>mcapotos : 5/24/2000<br>mcapotos : 5/22/2000<br>terry : 4/25/2000<br>carol : 9/2/1998<br>terry : 9/1/1998<br>carol : 8/24/1998<br>terry : 8/19/1998<br>terry : 8/19/1998<br>dkim : 7/21/1998<br>terry : 6/23/1997<br>terry : 6/23/1997<br>terry : 6/17/1997<br>mark : 6/16/1997<br>alopez : 6/13/1997<br>alopez : 6/13/1997<br>terry : 6/12/1997<br>jamie : 1/6/1997<br>terry : 12/30/1996<br>terry : 12/19/1996<br>terry : 4/18/1996<br>mark : 12/20/1995<br>terry : 12/15/1995<br>mark : 10/16/1995<br>carol : 9/2/1994<br>pfoster : 8/18/1994<br>davew : 6/27/1994<br>mimadm : 6/25/1994<br>warfield : 4/8/1994
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<strong>#</strong> 121050
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<h3>
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CONTRACTURAL ARACHNODACTYLY, CONGENITAL; CCA
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<em>Alternative titles; symbols</em>
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ARTHROGRYPOSIS, DISTAL, TYPE 9; DA9<br />
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BEALS SYNDROME
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<strong>SNOMEDCT:</strong> 205821003;
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<strong>ORPHA:</strong> 115;
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<strong>DO:</strong> 0111595;
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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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5q23.3
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Contractural arachnodactyly, congenital
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<span class="mim-font">
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121050
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Autosomal dominant
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<span class="mim-font">
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3
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FBN2
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612570
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that congenital contractural arachnodactyly (CCA) is caused by heterozygous mutation in the gene encoding fibrillin-2 (FBN2; 612570) on chromosome 5q23.</p><p>For a phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (108120).</p>
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<strong>Description</strong>
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<p>Congenital contractural arachnodactyly (CCA) is a rare, autosomal dominant connective tissue disorder characterized by contractures, arachnodactyly, scoliosis, and crumpled ears (Hecht and Beals, 1972). It shares overlapping features with Marfan syndrome (154700), which is caused by mutation in the gene encoding fibrillin-1 (FBN1; 134797). </p>
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<strong>Clinical Features</strong>
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<p>Beals and Hecht (1971) described father and 2 sons affected in 1 kindred and father, daughter and son (by different mothers) affected in a second kindred. They proposed that the disorder be called 'contractural arachnodactyly' and further suggested that the patient reported by Marfan (1896) had this disorder rather than the Marfan syndrome (154700) as presently delineated (Hecht and Beals, 1972). They found several other reports, apparently of the same disorder. Beyer et al. (1965) probably described the same condition in a mother and 4 children and some of the reports of combined Marfan syndrome and arthrogryposis multiplex congenita may be further examples (e.g., Reeve et al., 1960; Kingsley-Pillers, 1946). Epstein et al. (1968) described father and son with a connective tissue disorder with some features suggesting the Marfan syndrome and some suggesting osteogenesis imperfecta. Severe kyphoscoliosis, generalized osteopenia, flexion contractures of the fingers and abnormally shaped ears were among the characteristics. Abnormally shaped ('crumpled') ears have been emphasized by other students of CCA. According to Mirise and Shear (1979), the ocular and cardiovascular complications of the Marfan syndrome do not occur in contractural arachnodactyly (Mirise and Shear, 1979). Hence, the correct diagnosis has prognostic significance. </p><p>Bass et al. (1981) described CCA and Marfan syndrome in the same family. CCA was, however, the predominant finding in 4 generations of the family; the father of the propositus had keratoconus in addition to CCA. Pyeritz (1986) described several patients who had joint contractures and ear changes in the pinna seemingly characteristic of CCA but severe aortic changes typical of the Marfan syndrome. Bawle and Quigg (1992) described a black male with 'crumpled ear' deformity, scoliosis, and arachnodactyly, who had dilatation of the aortic root and ectopia lentis. They pointed to the patient of Reeve et al. (1960), an infant described as having 'Marfan syndrome and arthrogryposis,' who showed ectopia lentis in the right eye and in whom autopsy showed dilatation of the ascending aorta. </p><p>Anderson et al. (1984) reported a kindred in which many members of 3 generations showed features consistent with CCA. Of the 7 affected persons they examined, 6 had mitral valve prolapse. Family members without CCA did not have mitral valve prolapse. Although enlargement of the aortic root was not found, a 9-year-old girl was said to have 'an aortic diameter at the upper limits of normal.' Gruber et al. (1978) described severe mitral regurgitation in a premature infant with CCA. Reviewing 4 new families and 29 reported ones, Ramos Arroyo et al. (1985) stated that no ocular problems and no aortic problems have been encountered but that congenital heart defects have occurred 'in 14.7%.' Mitral regurgitation is a well-established feature of CCA; involvement of the aorta remains to be documented. Involvement of the eyes is also unclear. Huggon et al. (1990) described an infant girl with CCA complicated by mitral regurgitation. Although slit-lamp biomicroscopy showed no evidence of lens subluxation, the infant had iridodonesis apparently caused by anterior megalophthalmos. Langenskiold (1985) reported a case he followed for 37 years. </p><p>Currarino and Friedman (1986) described 2 unrelated infants with severe CCA, both of whom died in the first year of life. Cole and Hughes (1992) described an infant with presumed CCA who also had deficiency in the right lower limb. Viljoen et al. (1991) observed 8 affected persons in a family of Asiatic Indian descent. No linkage could be demonstrated with type I collagen probes (120150, 120160). </p><p>Viljoen (1994) published a review that included at least 40 families with more than 120 affected members with CCA. </p><p><strong><em>Comparison of CCA and Marfan Syndrome</em></strong></p><p>
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Zhang et al. (1994) showed differences of expression of fibrillin-1 and fibrillin-2 in human ear cartilage. They noted that this may account for the fact that abnormally shaped (i.e., crumpled) auricular helices are a hallmark of CCA. Most persons with Marfan syndrome do not have abnormally shaped ears, although some with neonatal Marfan syndrome may have crumpled ears (Godfrey et al., 1995). Similarities between neonatal Marfan syndrome and severe lethal CCA include arachnodactyly, joint contractures, and some facial characteristics. Importantly, although both have severe cardiovascular abnormalities that lead to very early death, the specific cardiac changes are quite different. Wang et al. (1996) tabulated the differences between the 2 syndromes with valvular insufficiency and aortic root dilatation in neonatal Marfan syndrome and structural defects in severe lethal CCA; scoliosis and vertebral anomalies predominantly in CCA; and duodenal atresia, esophageal atresia, and intestinal malrotation only in CCA. Zhang et al. (1995) suggested that expression of fibrillin-2 directs the assembly of elastic fibers during early embryogenesis, whereas fibrillin-1 provides the major structural (i.e., load bearing) function of the microfibrils. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In cloning the fibrillin gene (FBN1; 134797), located on chromosome 15 and mutant in the Marfan syndrome, Lee et al. (1991) isolated a cDNA for a second fibrillin locus, fibrillin-2 (FBN2; 612570). Study of 2 families with CCA demonstrated linkage between the phenotype and FBN2; maximal combined lod score = 4.5 at theta = 0.00. For demonstrating linkage, a VNDR (variable number dinucleotide repeat) related to the FBN2 gene was used as the marker. The FBN2 gene was mapped to 5q23-q31 by in situ hybridization. The linkage between a candidate gene and a disease locus, although highly suggestive, does not constitute final proof of causal relationship. In this case, however, linkage between 2 structurally related genes (FBN1 and FBN2) and 2 phenotypically related disorders (Marfan syndrome and CCA, respectively) gave strong support to the causal association. Identification of mutations in the FBN2 gene in cases of CCA was required for final proof. </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 class="mim-text-font">
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<p>The transmission pattern of CCA in the patients reported by Putnam and Milewicz (1995) and Wang et al. (1995) was consistent with autosomal dominant inheritance.</p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</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>Putnam and Milewicz (1995) and Wang et al. (1995) identified heterozygous point mutations in the FBN2 gene in cases of CCA. A mutation in a calcium-binding EGF-like motif (612570.0001) was found by the first authors and a mutation in a TGF-binding protein-like motif (612570.0002) by the second group.</p><p>In the father of 2 sibs affected with CCA, Putnam et al. (1997) demonstrated somatic mosaicism for an FBN2 mutation. The 2 sisters had been reported by Delemarre-van de Waal et al. (1980). The proband had arachnodactyly, contractures, crumpled ears, a highly arched palate, and mild retrognathia evident at birth. From the age of 4 years she had progressive thoracolumbar scoliosis, which required surgical correction at the age of 13 years. At 18 years of age, she was 173 cm tall, had crumpled ears, a preauricular tag on the right side, a low posterior hairline, slight bilateral ptosis, and mild retrognathia. She also had striae on her thighs, mild pectus carinatum, arachnodactyly, and contractures of elbows, knees, and fingers. Echocardiogram and ophthalmologic examinations were normal. The sister showed similar findings at birth. Like the sister she had normal mental development but delayed motor development. At 21 years of age, she was 176 cm tall and had crumpled ears, slight midthoracic scoliosis, striae on the upper thighs, arachnodactyly, and contractures. Echocardiogram and ophthalmologic examinations were normal. Both parents were unaffected. Putnam et al. (1997) noted that the mutation (612570.0005), resulting in abnormal splicing of the exon, was an unusual alteration that disrupted the invariant A in a putative branch point sequence found in the upstream intron. Exon 29 was deleted in the mutant allele. Analysis of FBN2 transcript levels by use of fibroblasts from one of the affected sibs indicated that the allele inherited from the mother, which did not contain the exon splicing mutation, was reduced in expression. This difference in FBN2 allele expression levels was also observed in CCA cell strains with previously characterized mutations, which showed greater expression of the mutated alleles (Putnam et al., 1995). These data expanded the spectrum of mutations that cause CCA. Putnam et al. (1997) suggested that the effects of mutations on fibrillin-2 are similar to those observed in fibrillin-1 and Marfan syndrome. </p><p>Park et al. (1998) identified FBN2 mutations in 6 of 12 unrelated CCA patient cell strains. All of the identified mutations were clustered in a limited region of the gene, a region corresponding to that in FBN1 where mutations produce the severe, congenital form of Marfan syndrome, so-called neonatal Marfan syndrome. Furthermore, 3 of the identified mutations occurred in the FBN2 locations exactly corresponding to FBN1 mutations that had been reported in cases of neonatal Marfan syndrome. These mutations indicate that this central region of both fibrillins plays a critical role in human embryogenesis. The limited region of FBN2 that can be mutated to cause CCA may also help explain the rarity of CCA compared to Marfan syndrome. </p><p>Belleh et al. (2000) reported 2 additional FBN2 mutations in CCA: C1141F in exon 26 (612570.0008) and C1252W in exon 29 (612570.0009). As in previous cases, mutations clustered in the region of fibrillin-2 homologous to the so-called neonatal Marfan syndrome region of fibrillin-1 (FBN1; 134797) (Kainulainen et al., 1994). </p><p>Gupta et al. (2002) noted that all of the identified CCA mutations in FBN2 cluster in a limited region similar to that where severe Marfan syndrome mutations cluster in FBN1, specifically between exons 23 and 34. Gupta et al. (2002) screened exons 22 through 36 of FBN2 for mutations in 13 patients with classic CCA by single-stranded conformation polymorphism analysis followed by direct sequencing. They successfully identified 10 novel mutations in this critical region of FBN2 in these patients, indicating a mutation detection rate of 75% in this region. None of these identified FBN2 mutations alter amino acids in the calcium-binding consensus sequence in the EGF-like domains, whereas many of the FBN1 mutations alter the consensus sequence. Gupta et al. (2002) reviewed the 21 known CAA mutations in the FBN2 gene, along with available clinical information on the probands. They found that 3 of the 21 patients had dilatation of the aortic root. All 3 were young, and the degree of dilatation appeared to have been borderline in all. However, because of the lack of knowledge of the natural history of aortic involvement in CCA, Gupta et al. (2002) recommended that all CCA patients have an echocardiogram. They cited Su et al. (2000) as indicating that approximately 15% of CCA patients have congenital heart defects. Their review did not support this conclusion, instead suggesting that congenital heart defects are only an occasional finding in these patients. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Nomenclature</strong>
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</span>
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</div>
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<span class="mim-text-font">
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<p>In a revised and extended classification scheme of the distal arthrogryposes, Bamshad et al. (1996) referred to this disorder as distal arthrogryposis type 9 (DA9). </p>
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</span>
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<br />
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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<span class="mim-text-font">
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<p>Chaudhry et al. (2001) analyzed the classic mouse mutant 'Shaker-with-syndactylism' (sy) using a positional candidate approach. The authors demonstrated that several loss-of-function mutations, each located outside the 'neonatal region' of Fbn2, caused syndactyly in mice, rather than CCA as in man. The deafness in these animals is caused by mutations in the contiguous Na-K-2Cl cotransporter gene Slc12a2 (600840) (Dixon et al., 1999). </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Lipson et al. (1974); Lowry and Guichon (1972)
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</h4>
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<p class="mim-text-font">
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Park, E.-S., Putnam, E. A., Chitayat, D., Child, A., Milewicz, D. M.
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|
<strong>Clustering of FBN2 mutations in patients with congenital contractural arachnodactyly indicates an important role of the domains encoded by exons 24 through 34 during human development.</strong>
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|
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Putnam, E. A., Zhang, H., Ramirez, F., Milewicz, D. M.
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Su, P.-H., Hou, J.-W., Hwu, W.-L., Wu, M.-H., Wang, J.-K., Wang, T.-R.
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