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Entry
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- #119500 - POPLITEAL PTERYGIUM SYNDROME; PPS
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- OMIM
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<p>
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<span class="h4">#119500</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/119500"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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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=POPLITEAL PTERYGIUM SYNDROME" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=1534&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/NBK1407/" 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/5870" 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/popliteal-pterygium-syndrome" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=119500[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=1300" 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/b985f208-fc45-4ea4-82ca-72f8bb464ccf/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 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:0060055" 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/119500" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://omia.org/OMIA000197/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<div 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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<a id="title" class="mim-anchor"></a>
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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> 718222000<br />
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<strong>ORPHA:</strong> 1300<br />
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<strong>DO:</strong> 0060055<br />
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">ICD+</a>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
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119500
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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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POPLITEAL PTERYGIUM SYNDROME; PPS
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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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CLEFT LIP/PALATE, PARAMEDIAN MUCOUS CYSTS OF THE LOWER LIP, POPLITEAL PTERYGIUM, DIGITAL AND GENITAL ANOMALIES<br />
|
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FACIOGENITOPOPLITEAL 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>
|
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</span>
|
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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<a href="/geneMap/1/1670?start=-3&limit=10&highlight=1670">
|
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1q32.2
|
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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Popliteal pterygium syndrome 1
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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/119500"> 119500 </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">
|
|
IRF6
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/607199"> 607199 </a>
|
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</span>
|
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</td>
|
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</tr>
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</tbody>
|
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</table>
|
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</div>
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</div>
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<div>
|
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|
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<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/119500" 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>
|
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</button>
|
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</div>
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<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>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/119500" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/119500" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
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</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>
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<div>
|
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<p />
|
|
</div>
|
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|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
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<div>
|
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<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> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Congenital ankyloblepharon filiforme <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861543&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861543</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Mouth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Lower lip pits <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861544&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861544</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000196" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000196</a>]</span><br /> -
|
|
Cleft lip <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80281008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80281008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q36" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q36</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q36.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q36.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/749.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/749.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.10</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0008924&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0008924</a>, <a href="https://bioportal.bioontology.org/search?q=C4321245&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4321245</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000204" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000204</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0410030" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0410030</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0410030" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0410030</a>]</span><br /> -
|
|
Cleft palate <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/63567004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">63567004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/87979003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">87979003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q35.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q35.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/749.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/749.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">749.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1837218&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1837218</a>, <a href="https://bioportal.bioontology.org/search?q=C2981150&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2981150</a>, <a href="https://bioportal.bioontology.org/search?q=C2240378&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2240378</a>, <a href="https://bioportal.bioontology.org/search?q=C0008925&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0008925</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000175" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000175</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000175" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000175</a>]</span><br /> -
|
|
Lower lip cysts <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861545&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861545</a>]</span><br /> -
|
|
Syngnathia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/403772000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">403772000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0795898&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0795898</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> External Genitalia (Male) </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Bifid scrotum <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/236780002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">236780002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0341787&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0341787</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000048" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000048</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000048" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000048</a>]</span><br /> -
|
|
Hypoplastic scrotum <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204912007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204912007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/276332008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">276332008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0455792&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0455792</a>, <a href="https://bioportal.bioontology.org/search?q=C0431659&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0431659</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000046" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000046</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000046" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000046</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> External Genitalia (Female) </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hypoplastic labia majora <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/289469003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">289469003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0566899&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0566899</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000059" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000059</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000059" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000059</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Internal Genitalia (Male) </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cryptorchidism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204878001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204878001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q53.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q53.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/752.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">752.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0010417&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0010417</a>, <a href="https://bioportal.bioontology.org/search?q=C5441920&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5441920</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000028" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000028</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000028" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000028</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Internal Genitalia (Female) </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hypoplastic vagina <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253836009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253836009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0345309&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0345309</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008726" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008726</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008726" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008726</a>]</span><br /> -
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Hypoplastic uterus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/35850006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">35850006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q51.811" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q51.811</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/752.32" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">752.32</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266399&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266399</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000013" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000013</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000013" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000013</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> SKELETAL </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Spine </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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- Spina bifida occulta <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/76916001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">76916001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q76.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q76.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/756.17" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">756.17</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0080174&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0080174</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003298" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003298</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003298" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003298</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> Feet </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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- Talipes equinovarus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/397932003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">397932003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1156475005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1156475005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q66.89" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q66.89</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/754.51" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.51</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009081&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009081</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001762" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001762</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001762" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001762</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> SKIN, NAILS, & HAIR </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Skin </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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- Popliteal pterygium <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3805420&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3805420</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009756" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009756</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009756" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009756</a>]</span><br /> -
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Intercrural pterygium <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3810471&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3810471</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009757" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009757</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009757" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009757</a>]</span><br /> -
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Variable skin syndactyly fingers and toes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3805421&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3805421</a>]</span><br /> -
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Pyramidal skinfold of halluces <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3805422&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3805422</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> Hair </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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- Unusual distribution of pubic hair with extension to inner aspect of thigh <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3805423&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3805423</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Clinical variability<br /> -
|
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Incidence of 1 in 300,000<br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> MOLECULAR BASIS </strong>
|
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by mutation in the interferon regulatory factor 6 gene (IRF6, <a href="/entry/607199#0003">607199.0003</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because popliteal pterygium syndrome (PPS) is caused by heterozygous mutation in the gene encoding interferon regulatory factor-6 (IRF6; <a href="/entry/607199">607199</a>) on chromosome 1q32. One patient with a homozygous mutation in the IRF6 gene has been reported.</p><p>Van der Woude syndrome-1 (VWS1; <a href="/entry/119300">119300</a>) is an allelic disorder.</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Popliteal pterygium syndrome (PPS) is an autosomal dominant disorder with diverse clinical features including orofacial anomalies such as lower lip pits, cleft lip and/or palate, and syngnathia, and skin and genital abnormalities including webbing of the lower limbs, syndactyly, hypoplasia of the labia majora, and bifid or absent scrotum (summary by <a href="#19" class="mim-tip-reference" title="Matsuzawa, N., Kondo, S., Shimozato, K., Nagao, T., Nakano, M., Tsuda, M., Hirano, A., Niikawa, N., Yoshiura, K. <strong>Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome.</strong> Am. J. Med. Genet. 152A: 2262-2267, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20803643/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20803643</a>] [<a href="https://doi.org/10.1002/ajmg.a.33338" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20803643">Matsuzawa et al., 2010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20803643" 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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<br />
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<div>
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<a id="clinicalFeatures" class="mim-anchor"></a>
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Clinical Features</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><a href="#18" class="mim-tip-reference" title="Lewis, E. <strong>Congenital webbing of the lower limbs.</strong> Proc. Roy. Soc. Med. 41: 864 only, 1948."None>Lewis (1948)</a> described brother and sister with cleft palate and webbing of the lower limbs whose father had harelip and cleft palate. The webbing extended from the region of the ischial tuberosities to the heels. Surgeons must be aware that the sciatic nerve may be situated in the web. The girl was said to have 'bilateral incomplete harelip.'</p><p>Pterygium of the neck and arms does not occur in this syndrome. An intercrural pterygium, if present, causes distortion of the genitalia. Bifid scrotum and cryptorchidism are the rule in males and hypoplasia of the labia majora in females. Congenital ankyloblepharon filiforme occurs in some cases. The epithelial strands connecting the eyelids in ankyloblepharon filiforme have their counterpart in symmetrical epithelial strands running from the maxilla, as pictured by <a href="#22" class="mim-tip-reference" title="Rintala, A. E., Lahti, A. Y., Gylling, U. S. <strong>Congenital sinuses of the lower lip in connection with cleft lip and palate.</strong> Cleft Palate J. 7: 336-346, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5266345/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5266345</a>]" pmid="5266345">Rintala et al. (1970)</a>. <a href="#21" class="mim-tip-reference" title="Pfeiffer, R. A., Tunte, W., Reinken, M. <strong>Das Kniepterygium-Syndrom, ein autosomal-dominant vererbtes Missbildungssyndrom.</strong> Z. Kinderheilk. 108: 103-116, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4325529/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4325529</a>]" pmid="4325529">Pfeiffer et al. (1970)</a> described affected father and 2 sons with predominantly unilateral popliteal pterygium, anomalies of the skin around the nails, syndactyly, abnormality of the scrotum or cryptorchidism, cleft lip and palate, congenital fistulae of the lower lip, congenital bands of mucous membranes between jaws, and ankyloblepharon filiforme adnatum. <a href="#12" class="mim-tip-reference" title="Kind, H. P. <strong>Popliteales Pterygiumsyndrom.</strong> Helv. Paediat. Acta 25: 508-516, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5493566/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5493566</a>]" pmid="5493566">Kind (1970)</a> described affected mother and daughter. In addition to bilateral popliteal pterygium, aplasia of the labia majora, ankyloblepharon filiforme, filiform bands between the jaws, lip pits and cleft palate were present. See Noonan syndrome (<a href="/entry/163950">163950</a>). <a href="#5" class="mim-tip-reference" title="Froster-Iskenius, U. G. <strong>Popliteal pterygium syndrome.</strong> J. Med. Genet. 27: 320-326, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2352260/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2352260</a>] [<a href="https://doi.org/10.1136/jmg.27.5.320" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2352260">Froster-Iskenius (1990)</a> provided an extensive review. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5493566+2352260+4325529+5266345" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#15" class="mim-tip-reference" title="Kopits, E. <strong>Die als 'Flughaut' bezeichneten Missbildungen und deren operative Behandlung (Musculo-dysplasia congenita).</strong> Arch. Orthop. Unfallchir. 37: 539-541, 1937."None>Kopits (1937)</a> described 4 cases, 3 of them belonging to the same family, and gave details of the operative techniques used. Cleft palate with or without cleft lip is found in 91 to 97% of cases. Paramedian sinuses or pits of the lower lip are said to occur in 45.6%. These are feature of the lip-pit or Van der Woude syndrome-1 (VWS; <a href="/entry/119300">119300</a>), which had been mapped to 1q32. Over two-fifths of patients have intraoral tissue bands (syngnathia) impeding mouth opening. Ankyloblepharon filiforme adnatum occurs in about one-fifth of cases. About one-third of cases have a distinctive nail anomaly with a pyramidal skinfold extending from the base to the tip of the nails. Genital anomalies in females include hypoplastic labia majora as well as hypoplastic vagina and uterus. Males have cryptorchidism and bifid or absent scrotum; the penis is usually normal-sized.</p><p><a href="#11" class="mim-tip-reference" title="Hunter, A. <strong>The popliteal pterygium syndrome: report of a new family and review of the literature.</strong> Am. J. Med. Genet. 36: 196-208, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2164325/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2164325</a>] [<a href="https://doi.org/10.1002/ajmg.1320360213" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2164325">Hunter (1990)</a> described a family ascertained through an infant with most of the major signs of the popliteal pterygium syndrome. The mother, who had a repaired cleft palate and toe syndactyly, had been aware that her syndactyly was familial. She showed a hint of popliteal webbing. The infant proband showed ankyloblepharon, cleft lip, and oral synechiae, as well as lower lip pits, complete cleft palate, mild intracrural webbing and hypoplasia of the labia majora, popliteal webbing more marked on the right, and marked dimpling over the elbows and knees. Variable skin syndactyly involved the third and fourth fingers of both hands, fourth and fifth toes of both feet, and the second and third toes of the left foot. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2164325" 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>Syndactyly is a useful diagnostic sign in PPS because it is not seen in most of the syndromes that should be considered in the differential diagnosis. In the reported cases reviewed by <a href="#11" class="mim-tip-reference" title="Hunter, A. <strong>The popliteal pterygium syndrome: report of a new family and review of the literature.</strong> Am. J. Med. Genet. 36: 196-208, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2164325/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2164325</a>] [<a href="https://doi.org/10.1002/ajmg.1320360213" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2164325">Hunter (1990)</a>, syndactyly of the toes was reported in 57% and of the hands in 16%; overall, 59% of patients had some form of syndactyly. In the hands, fusion of fingers 3 and 4 was the most common type of syndactyly. Thus, the syndactyly in PPS most closely resembles type I (<a href="/entry/185900">185900</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2164325" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#23" class="mim-tip-reference" title="Soekarman, D., Cobben, J. M., Vogels, A., Spauwen, P. H., Fryns, J. P. <strong>Variable expression of the popliteal pterygium syndrome in two 3-generation families.</strong> Clin. Genet. 47: 169-174, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7628117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7628117</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1995.tb03954.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7628117">Soekarman et al. (1995)</a> described 2 families in which the popliteal pterygium syndrome occurred in 3 successive generations. While expression of the syndrome was relatively mild in the first and second generations, the patients in the third generation showed the full-blown syndrome. Differential diagnosis between mildly affected patients with the popliteal pterygium syndrome and those with Van der Woude syndrome is difficult and may even be impossible. Indeed, <a href="#23" class="mim-tip-reference" title="Soekarman, D., Cobben, J. M., Vogels, A., Spauwen, P. H., Fryns, J. P. <strong>Variable expression of the popliteal pterygium syndrome in two 3-generation families.</strong> Clin. Genet. 47: 169-174, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7628117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7628117</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1995.tb03954.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7628117">Soekarman et al. (1995)</a> suggested that their observations support the hypothesis that the 2 syndromes are variants of the same disorder. <a href="#7" class="mim-tip-reference" title="Gorlin, R. J., Cohen, M. M., Jr., Levin, L. S. <strong>Popliteal pterygium syndrome (facio-genito-popliteal syndrome). Syndromes of the Head and Neck. (3rd ed.)</strong> New York: Oxford Univ. Press (pub.) 1990. Pp. 629-631."None>Gorlin et al. (1990)</a> suggested that a pathognomonic sign is a typical, triangular overgrowth of skin over the nail of the first toe. They suggested that if this sign is present in a patient in combination with cleft palate and/or lip, even without popliteal webbing, the diagnosis of PPS should be made. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7628117" 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="Lees, M. M., Winter, R. M., Malcolm, S., Saal, H. M., Chitty, L. <strong>Popliteal pterygium syndrome: a clinical study of three families and report of linkage to the Van der Woude syndrome locus on 1q32.</strong> J. Med. Genet. 36: 888-892, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10593995/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10593995</a>]" pmid="10593995">Lees et al. (1999)</a> reported clinical features in 3 families and 1 isolated individual with PPS. There was both intra- and interfamilial variation, with the severity of popliteal webbing varying from severe, causing a 90-degree flexion contracture, to a functionally insignificant fibrous cord. Clefting varied from submucous to bilateral cleft lip and palate. Severity of clefting did not correlate with the severity of popliteal webbing. Lip pits were absent in 1 family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10593995" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#19" class="mim-tip-reference" title="Matsuzawa, N., Kondo, S., Shimozato, K., Nagao, T., Nakano, M., Tsuda, M., Hirano, A., Niikawa, N., Yoshiura, K. <strong>Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome.</strong> Am. J. Med. Genet. 152A: 2262-2267, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20803643/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20803643</a>] [<a href="https://doi.org/10.1002/ajmg.a.33338" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20803643">Matsuzawa et al. (2010)</a> reported 2 unrelated Japanese families with genetically confirmed PPS. The proband in 1 family had lip pits, bilateral cleft lip and palate, syngnathia, syndactyly, popliteal webbing, and atrophic testes. His father, who also carried the mutation, had bilateral cleft lip and palate only. Family history revealed a paternal grandfather and aunt with bifid uvula and cleft palate. Thus, variable expressivity was clinically evident in this family. In the second family, a boy had cleft palate, syngnathia, unclear scrotum, syndactyly, and mild popliteal webbing, whereas his mother had cleft lip and palate, syngnathia, syndactyly, and hypoplasia of the labia majora. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20803643" 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="#13" class="mim-tip-reference" title="Klein, D. <strong>Un curieux syndrome hereditaire: cheilo-palatoschizis avec fistules de la levre inferieure associe a une syndactylie, une onychodysplasie particuliere, un pterygion poplite unilateral et des pieds varus equins.</strong> J. Genet. Hum. 11: 65-71, 1962.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14041701/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14041701</a>]" pmid="14041701">Klein (1962)</a> described a mother and a daughter with the features of this syndrome and suggested dominant inheritance. <a href="#8" class="mim-tip-reference" title="Gorlin, R. J., Pindborg, J. J., Cohen, M. M., Jr. <strong>Cleft lip-palate, popliteal pterygium digital and genital anomalies. Syndromes of the Head and Neck. (2nd ed.)</strong> New York: Blakiston Division, McGraw-Hill (pub.) 1976. Pp. 121-124."None>Gorlin et al. (1976)</a> favored autosomal dominant inheritance with variable expressivity and incomplete penetrance; likewise, <a href="#3" class="mim-tip-reference" title="Escobar, V., Weaver, D. D. <strong>The facio-genito-popliteal syndrome.</strong> Birth Defects Orig. Art. Ser. XIV(6B): 185-192, 1978."None>Escobar and Weaver (1978)</a> concluded that autosomal dominant inheritance is usual. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14041701" 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="Hecht, F., Jarvinen, J. M. <strong>Heritable dysmorphic syndrome with normal intelligence.</strong> J. Pediat. 70: 927-935, 1967.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6026118/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6026118</a>] [<a href="https://doi.org/10.1016/s0022-3476(67)80265-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6026118">Hecht and Jarvinen (1967)</a> observed affected mother and 2 sons in one family and affected mother and son and daughter in a second. The observation of affected father and son by <a href="#18" class="mim-tip-reference" title="Lewis, E. <strong>Congenital webbing of the lower limbs.</strong> Proc. Roy. Soc. Med. 41: 864 only, 1948."None>Lewis (1948)</a> excludes X-linked inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6026118" 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="#16" class="mim-tip-reference" title="Lees, M. M., Winter, R. M., Malcolm, S., Saal, H. M., Chitty, L. <strong>Popliteal pterygium syndrome: a clinical study of three families and report of linkage to the Van der Woude syndrome locus on 1q32.</strong> J. Med. Genet. 36: 888-892, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10593995/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10593995</a>]" pmid="10593995">Lees et al. (1999)</a> performed linkage analysis using the markers D1S205, D1S491, and D1S3753 in the critical region for the Van der Woude syndrome on chromosome 1q32. They obtained a multipoint lod score of 2.7 with no evidence of recombination, supporting the hypothesis that these 2 conditions are allelic. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10593995" 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="#14" class="mim-tip-reference" title="Kondo, S., Schutte, B. C., Richardson, R. J., Bjork, B. C., Knight, A. S., Watanabe, Y., Howard, E., Ferreira de Lima, R. L. L., Daack-Hirsch, S., Sander, A., McDonald-McGinn, D. M., Zackai, E. H., and 14 others. <strong>Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. (Letter)</strong> Nature Genet. 32: 285-289, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12219090/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12219090</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12219090[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng985" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12219090">Kondo et al. (2002)</a> carried out direct sequence analysis of genes and presumptive transcripts in the critical region for popliteal pterygium syndrome and van der Woude syndrome (VWS1; <a href="/entry/119300">119300</a>) identified by linkage analysis on 1q32. They detected mutations in the IRF6 gene encoding interferon regulatory factor-6 (<a href="/entry/607199#0001">607199.0001</a>-<a href="/entry/607199#0005">607199.0005</a>) in both of these syndromes, which share phenotypic features. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12219090" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 4-generation VWS family in which affected individuals carried an L22P mutation in the IRF6 gene (<a href="/entry/607199#0014">607199.0014</a>), 2 of the patients displayed additional features: 1 had finger syndactyly, and the other had toe syndactyly and oral synechiae. <a href="#6" class="mim-tip-reference" title="Ghassibe, M., Revencu, N., Bayet, B., Gillerot, Y., Vanwijck, R., Verellen-Dumoulin, C., Vikkula, M. <strong>Six families with van der Woude and/or popliteal pterygium syndrome: all with a mutation in the IRF6 gene.</strong> J. Med. Genet. 41: e15, 2004. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14757865/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14757865</a>] [<a href="https://doi.org/10.1136/jmg.2003.009274" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14757865">Ghassibe et al. (2004)</a> stated that because syndactyly and synechiae are major signs for PPS, these 2 patients were considered to have PPS, whereas the 6 other affected family members were classified as VWS, thus demonstrating that a single mutation could be responsible for both syndromes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14757865" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of 2 unrelated Japanese families with PPS, <a href="#19" class="mim-tip-reference" title="Matsuzawa, N., Kondo, S., Shimozato, K., Nagao, T., Nakano, M., Tsuda, M., Hirano, A., Niikawa, N., Yoshiura, K. <strong>Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome.</strong> Am. J. Med. Genet. 152A: 2262-2267, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20803643/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20803643</a>] [<a href="https://doi.org/10.1002/ajmg.a.33338" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20803643">Matsuzawa et al. (2010)</a> identified 2 different heterozygous mutation in the IRF6 gene (<a href="/entry/607199#0015">607199.0015</a> and <a href="/entry/607199#0016">607199.0016</a>, respectively). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20803643" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a neonate with a clinical diagnosis of PPS, <a href="#17" class="mim-tip-reference" title="Leslie, E. J., O'Sullivan, J., Cunningham, M. L., Singh, A., Goudy, S. L., Ababneh, F., Alsubaie, L., Ch'ng, G.-S., van der Laar, I. M. B. H., Hoogeboom, A. J. M., Dunnwald, M., Kapoor, S., Jiramongkolchai, P., Standley, J., Manak, J. R., Murray, J. C., Dixon, M. J. <strong>Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders.</strong> Am. J. Med. Genet. 167A: 545-552, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25691407/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25691407</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25691407[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ajmg.a.36896" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25691407">Leslie et al. (2015)</a> identified a homozygous mutation in the IRF6 gene (<a href="/entry/607199#0019">607199.0019</a>). The unaffected consanguineous parents were heterozygous for the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25691407" 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>Van der Woude Syndrome-Popliteal Pterygium Syndrome Spectrum</em></strong></p><p>
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In a patient with overlapping features of VWS and PPS (unilateral cleft lip and palate, ankyloblepharon, paramedian lip pits) as well as unilateral renal aplasia and coronal hypospadias, <a href="#2" class="mim-tip-reference" title="de Medeiros, F., Hansen, L., Mawlad, E., Eiberg, H., Asklund, C., Tommerup, N., Jakobsen, L. P. <strong>A novel mutation in IRF6 resulting in VWS-PPS spectrum disorder with renal aplasia.</strong> Am. J. Med. Genet. 146A: 1605-1608, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18478600/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18478600</a>] [<a href="https://doi.org/10.1002/ajmg.a.32257" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18478600">de Medeiros et al. (2008)</a> identified a novel mutation in the IRF6 gene (<a href="/entry/607199#0013">607199.0013</a>). The patient and his brother, who had hypospadias and nephrocalcinosis but no IRF6 mutation, were both conceived by in vitro fertilization. <a href="#2" class="mim-tip-reference" title="de Medeiros, F., Hansen, L., Mawlad, E., Eiberg, H., Asklund, C., Tommerup, N., Jakobsen, L. P. <strong>A novel mutation in IRF6 resulting in VWS-PPS spectrum disorder with renal aplasia.</strong> Am. J. Med. Genet. 146A: 1605-1608, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18478600/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18478600</a>] [<a href="https://doi.org/10.1002/ajmg.a.32257" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18478600">De Medeiros et al. (2008)</a> suggested that the hypospadias and renal aplasia may have been due to the method of fertilization rather than the IRF6 mutation. They noted that a lethal PPS syndrome (<a href="/entry/263650">263650</a>) has renal aplasia as a feature. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18478600" 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="#Bixler1973" class="mim-tip-reference" title="Bixler, D., Poland, C., III, Nance, W. E. <strong>Phenotypic variation in the popliteal pterygium syndrome.</strong> Clin. Genet. 4: 220-228, 1973.">Bixler et al. (1973)</a>; <a href="#Frohlich1977" class="mim-tip-reference" title="Frohlich, G. S., Starzer, K. L., Tortora, J. M. <strong>Popliteal pterygium syndrome: report of a family.</strong> J. Pediat. 90: 91-93, 1977.">Frohlich et al. (1977)</a>; <a href="#Gorlin1968" class="mim-tip-reference" title="Gorlin, R. J., Sedano, H. O., Cervenka, J. <strong>Popliteal pterygium syndrome: a syndrome comprising cleft lip-palate, popliteal and intercrural pterygia, digital and genital anomalies.</strong> Pediatrics 41: 503-509, 1968.">Gorlin et al. (1968)</a>; <a href="#Pashayan1980" class="mim-tip-reference" title="Pashayan, H. M., Lewis, M. B. <strong>A family with the popliteal pterygium syndrome.</strong> Cleft Palate J. 17: 48-51, 1980.">Pashayan and Lewis (1980)</a>
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Bixler, D., Poland, C., III, Nance, W. E.
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<strong>Phenotypic variation in the popliteal pterygium syndrome.</strong>
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[<a href="https://doi.org/10.1111/j.1399-0004.1973.tb01146.x" target="_blank">Full Text</a>]
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de Medeiros, F., Hansen, L., Mawlad, E., Eiberg, H., Asklund, C., Tommerup, N., Jakobsen, L. P.
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<strong>A novel mutation in IRF6 resulting in VWS-PPS spectrum disorder with renal aplasia.</strong>
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Am. J. Med. Genet. 146A: 1605-1608, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18478600/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18478600</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18478600" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Popliteal pterygium syndrome: report of a family.</strong>
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J. Pediat. 90: 91-93, 1977.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/830904/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">830904</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=830904" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2352260/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2352260</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2352260" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14757865/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14757865</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14757865" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Gorlin, R. J., Sedano, H. O., Cervenka, J.
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<strong>Popliteal pterygium syndrome: a syndrome comprising cleft lip-palate, popliteal and intercrural pterygia, digital and genital anomalies.</strong>
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Pediatrics 41: 503-509, 1968.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4384166/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4384166</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4384166" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(67)80265-8" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2164325/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2164325</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2164325" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320360213" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5493566/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5493566</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5493566" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Klein, D.
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<strong>Un curieux syndrome hereditaire: cheilo-palatoschizis avec fistules de la levre inferieure associe a une syndactylie, une onychodysplasie particuliere, un pterygion poplite unilateral et des pieds varus equins.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14041701/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14041701</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14041701" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<p class="mim-text-font">
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Kondo, S., Schutte, B. C., Richardson, R. J., Bjork, B. C., Knight, A. S., Watanabe, Y., Howard, E., Ferreira de Lima, R. L. L., Daack-Hirsch, S., Sander, A., McDonald-McGinn, D. M., Zackai, E. H., and 14 others.
|
|
<strong>Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. (Letter)</strong>
|
|
Nature Genet. 32: 285-289, 2002.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12219090/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12219090</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12219090[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12219090" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng985" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="15" class="mim-anchor"></a>
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<a id="Kopits1937" class="mim-anchor"></a>
|
|
<div class="">
|
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<p class="mim-text-font">
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|
Kopits, E.
|
|
<strong>Die als 'Flughaut' bezeichneten Missbildungen und deren operative Behandlung (Musculo-dysplasia congenita).</strong>
|
|
Arch. Orthop. Unfallchir. 37: 539-541, 1937.
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</p>
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</div>
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</li>
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<li>
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<a id="16" class="mim-anchor"></a>
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<a id="Lees1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Lees, M. M., Winter, R. M., Malcolm, S., Saal, H. M., Chitty, L.
|
|
<strong>Popliteal pterygium syndrome: a clinical study of three families and report of linkage to the Van der Woude syndrome locus on 1q32.</strong>
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J. Med. Genet. 36: 888-892, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10593995/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10593995</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10593995" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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<li>
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<a id="17" class="mim-anchor"></a>
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<a id="Leslie2015" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Leslie, E. J., O'Sullivan, J., Cunningham, M. L., Singh, A., Goudy, S. L., Ababneh, F., Alsubaie, L., Ch'ng, G.-S., van der Laar, I. M. B. H., Hoogeboom, A. J. M., Dunnwald, M., Kapoor, S., Jiramongkolchai, P., Standley, J., Manak, J. R., Murray, J. C., Dixon, M. J.
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<strong>Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders.</strong>
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Am. J. Med. Genet. 167A: 545-552, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25691407/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25691407</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25691407[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25691407" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.36896" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="18" class="mim-anchor"></a>
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<a id="Lewis1948" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Lewis, E.
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|
<strong>Congenital webbing of the lower limbs.</strong>
|
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Proc. Roy. Soc. Med. 41: 864 only, 1948.
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</p>
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</div>
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</li>
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<li>
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<a id="19" class="mim-anchor"></a>
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<a id="Matsuzawa2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Matsuzawa, N., Kondo, S., Shimozato, K., Nagao, T., Nakano, M., Tsuda, M., Hirano, A., Niikawa, N., Yoshiura, K.
|
|
<strong>Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome.</strong>
|
|
Am. J. Med. Genet. 152A: 2262-2267, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20803643/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20803643</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20803643" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.33338" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="20" class="mim-anchor"></a>
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<a id="Pashayan1980" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Pashayan, H. M., Lewis, M. B.
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<strong>A family with the popliteal pterygium syndrome.</strong>
|
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Cleft Palate J. 17: 48-51, 1980.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6928117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6928117</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6928117" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="21" class="mim-anchor"></a>
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<a id="Pfeiffer1970" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Pfeiffer, R. A., Tunte, W., Reinken, M.
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<strong>Das Kniepterygium-Syndrom, ein autosomal-dominant vererbtes Missbildungssyndrom.</strong>
|
|
Z. Kinderheilk. 108: 103-116, 1970.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4325529/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4325529</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4325529" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="22" class="mim-anchor"></a>
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<a id="Rintala1970" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Rintala, A. E., Lahti, A. Y., Gylling, U. S.
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<strong>Congenital sinuses of the lower lip in connection with cleft lip and palate.</strong>
|
|
Cleft Palate J. 7: 336-346, 1970.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5266345/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5266345</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5266345" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="23" class="mim-anchor"></a>
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<a id="Soekarman1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Soekarman, D., Cobben, J. M., Vogels, A., Spauwen, P. H., Fryns, J. P.
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<strong>Variable expression of the popliteal pterygium syndrome in two 3-generation families.</strong>
|
|
Clin. Genet. 47: 169-174, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7628117/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7628117</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7628117" 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/10.1111/j.1399-0004.1995.tb03954.x" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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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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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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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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Nara Sobreira - updated : 09/23/2016
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 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 : 6/15/2011<br>Marla J. F. O'Neill - updated : 4/6/2011<br>Nara Sobreira - updated : 11/24/2009<br>Victor A. McKusick - updated : 9/4/2002<br>Michael J. Wright - updated : 3/9/2000
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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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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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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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Victor A. McKusick : 6/4/1986
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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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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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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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carol : 03/24/2022
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 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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alopez : 02/06/2020<br>alopez : 02/06/2020<br>carol : 09/23/2016<br>carol : 07/09/2016<br>carol : 10/20/2015<br>wwang : 7/22/2011<br>wwang : 6/30/2011<br>ckniffin : 6/15/2011<br>wwang : 4/19/2011<br>terry : 4/6/2011<br>carol : 11/24/2009<br>carol : 7/31/2009<br>carol : 4/21/2006<br>alopez : 10/18/2002<br>alopez : 9/16/2002<br>alopez : 9/6/2002<br>tkritzer : 9/5/2002<br>tkritzer : 9/4/2002<br>alopez : 3/9/2000<br>terry : 7/10/1995<br>mark : 6/27/1995<br>davew : 7/28/1994<br>mimadm : 6/25/1994<br>carol : 6/1/1994<br>supermim : 3/16/1992
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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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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>#</strong> 119500
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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POPLITEAL PTERYGIUM SYNDROME; PPS
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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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<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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CLEFT LIP/PALATE, PARAMEDIAN MUCOUS CYSTS OF THE LOWER LIP, POPLITEAL PTERYGIUM, DIGITAL AND GENITAL ANOMALIES<br />
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FACIOGENITOPOPLITEAL 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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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 718222000;
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<strong>ORPHA:</strong> 1300;
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<strong>DO:</strong> 0060055;
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</span>
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</p>
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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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<h4>
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
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</h4>
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<div>
|
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<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
|
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<tr class="active">
|
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<th>
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Location
|
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</th>
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<th>
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|
Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
|
Inheritance
|
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</th>
|
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<th>
|
|
Phenotype <br /> mapping key
|
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</th>
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<th>
|
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Gene/Locus
|
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</th>
|
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<th>
|
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Gene/Locus <br /> MIM number
|
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td>
|
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<span class="mim-font">
|
|
1q32.2
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
Popliteal pterygium syndrome 1
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
119500
|
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
Autosomal dominant
|
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</span>
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</td>
|
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<td>
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<span class="mim-font">
|
|
3
|
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</span>
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
IRF6
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
607199
|
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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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>TEXT</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>A number sign (#) is used with this entry because popliteal pterygium syndrome (PPS) is caused by heterozygous mutation in the gene encoding interferon regulatory factor-6 (IRF6; 607199) on chromosome 1q32. One patient with a homozygous mutation in the IRF6 gene has been reported.</p><p>Van der Woude syndrome-1 (VWS1; 119300) is an allelic disorder.</p>
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<strong>Description</strong>
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<p>Popliteal pterygium syndrome (PPS) is an autosomal dominant disorder with diverse clinical features including orofacial anomalies such as lower lip pits, cleft lip and/or palate, and syngnathia, and skin and genital abnormalities including webbing of the lower limbs, syndactyly, hypoplasia of the labia majora, and bifid or absent scrotum (summary by Matsuzawa et al., 2010). </p>
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<strong>Clinical Features</strong>
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<p>Lewis (1948) described brother and sister with cleft palate and webbing of the lower limbs whose father had harelip and cleft palate. The webbing extended from the region of the ischial tuberosities to the heels. Surgeons must be aware that the sciatic nerve may be situated in the web. The girl was said to have 'bilateral incomplete harelip.'</p><p>Pterygium of the neck and arms does not occur in this syndrome. An intercrural pterygium, if present, causes distortion of the genitalia. Bifid scrotum and cryptorchidism are the rule in males and hypoplasia of the labia majora in females. Congenital ankyloblepharon filiforme occurs in some cases. The epithelial strands connecting the eyelids in ankyloblepharon filiforme have their counterpart in symmetrical epithelial strands running from the maxilla, as pictured by Rintala et al. (1970). Pfeiffer et al. (1970) described affected father and 2 sons with predominantly unilateral popliteal pterygium, anomalies of the skin around the nails, syndactyly, abnormality of the scrotum or cryptorchidism, cleft lip and palate, congenital fistulae of the lower lip, congenital bands of mucous membranes between jaws, and ankyloblepharon filiforme adnatum. Kind (1970) described affected mother and daughter. In addition to bilateral popliteal pterygium, aplasia of the labia majora, ankyloblepharon filiforme, filiform bands between the jaws, lip pits and cleft palate were present. See Noonan syndrome (163950). Froster-Iskenius (1990) provided an extensive review. </p><p>Kopits (1937) described 4 cases, 3 of them belonging to the same family, and gave details of the operative techniques used. Cleft palate with or without cleft lip is found in 91 to 97% of cases. Paramedian sinuses or pits of the lower lip are said to occur in 45.6%. These are feature of the lip-pit or Van der Woude syndrome-1 (VWS; 119300), which had been mapped to 1q32. Over two-fifths of patients have intraoral tissue bands (syngnathia) impeding mouth opening. Ankyloblepharon filiforme adnatum occurs in about one-fifth of cases. About one-third of cases have a distinctive nail anomaly with a pyramidal skinfold extending from the base to the tip of the nails. Genital anomalies in females include hypoplastic labia majora as well as hypoplastic vagina and uterus. Males have cryptorchidism and bifid or absent scrotum; the penis is usually normal-sized.</p><p>Hunter (1990) described a family ascertained through an infant with most of the major signs of the popliteal pterygium syndrome. The mother, who had a repaired cleft palate and toe syndactyly, had been aware that her syndactyly was familial. She showed a hint of popliteal webbing. The infant proband showed ankyloblepharon, cleft lip, and oral synechiae, as well as lower lip pits, complete cleft palate, mild intracrural webbing and hypoplasia of the labia majora, popliteal webbing more marked on the right, and marked dimpling over the elbows and knees. Variable skin syndactyly involved the third and fourth fingers of both hands, fourth and fifth toes of both feet, and the second and third toes of the left foot. </p><p>Syndactyly is a useful diagnostic sign in PPS because it is not seen in most of the syndromes that should be considered in the differential diagnosis. In the reported cases reviewed by Hunter (1990), syndactyly of the toes was reported in 57% and of the hands in 16%; overall, 59% of patients had some form of syndactyly. In the hands, fusion of fingers 3 and 4 was the most common type of syndactyly. Thus, the syndactyly in PPS most closely resembles type I (185900). </p><p>Soekarman et al. (1995) described 2 families in which the popliteal pterygium syndrome occurred in 3 successive generations. While expression of the syndrome was relatively mild in the first and second generations, the patients in the third generation showed the full-blown syndrome. Differential diagnosis between mildly affected patients with the popliteal pterygium syndrome and those with Van der Woude syndrome is difficult and may even be impossible. Indeed, Soekarman et al. (1995) suggested that their observations support the hypothesis that the 2 syndromes are variants of the same disorder. Gorlin et al. (1990) suggested that a pathognomonic sign is a typical, triangular overgrowth of skin over the nail of the first toe. They suggested that if this sign is present in a patient in combination with cleft palate and/or lip, even without popliteal webbing, the diagnosis of PPS should be made. </p><p>Lees et al. (1999) reported clinical features in 3 families and 1 isolated individual with PPS. There was both intra- and interfamilial variation, with the severity of popliteal webbing varying from severe, causing a 90-degree flexion contracture, to a functionally insignificant fibrous cord. Clefting varied from submucous to bilateral cleft lip and palate. Severity of clefting did not correlate with the severity of popliteal webbing. Lip pits were absent in 1 family. </p><p>Matsuzawa et al. (2010) reported 2 unrelated Japanese families with genetically confirmed PPS. The proband in 1 family had lip pits, bilateral cleft lip and palate, syngnathia, syndactyly, popliteal webbing, and atrophic testes. His father, who also carried the mutation, had bilateral cleft lip and palate only. Family history revealed a paternal grandfather and aunt with bifid uvula and cleft palate. Thus, variable expressivity was clinically evident in this family. In the second family, a boy had cleft palate, syngnathia, unclear scrotum, syndactyly, and mild popliteal webbing, whereas his mother had cleft lip and palate, syngnathia, syndactyly, and hypoplasia of the labia majora. </p>
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<strong>Inheritance</strong>
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<p>Klein (1962) described a mother and a daughter with the features of this syndrome and suggested dominant inheritance. Gorlin et al. (1976) favored autosomal dominant inheritance with variable expressivity and incomplete penetrance; likewise, Escobar and Weaver (1978) concluded that autosomal dominant inheritance is usual. </p><p>Hecht and Jarvinen (1967) observed affected mother and 2 sons in one family and affected mother and son and daughter in a second. The observation of affected father and son by Lewis (1948) excludes X-linked inheritance. </p>
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<strong>Mapping</strong>
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<p>Lees et al. (1999) performed linkage analysis using the markers D1S205, D1S491, and D1S3753 in the critical region for the Van der Woude syndrome on chromosome 1q32. They obtained a multipoint lod score of 2.7 with no evidence of recombination, supporting the hypothesis that these 2 conditions are allelic. </p>
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<strong>Molecular Genetics</strong>
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<p>Kondo et al. (2002) carried out direct sequence analysis of genes and presumptive transcripts in the critical region for popliteal pterygium syndrome and van der Woude syndrome (VWS1; 119300) identified by linkage analysis on 1q32. They detected mutations in the IRF6 gene encoding interferon regulatory factor-6 (607199.0001-607199.0005) in both of these syndromes, which share phenotypic features. </p><p>In a 4-generation VWS family in which affected individuals carried an L22P mutation in the IRF6 gene (607199.0014), 2 of the patients displayed additional features: 1 had finger syndactyly, and the other had toe syndactyly and oral synechiae. Ghassibe et al. (2004) stated that because syndactyly and synechiae are major signs for PPS, these 2 patients were considered to have PPS, whereas the 6 other affected family members were classified as VWS, thus demonstrating that a single mutation could be responsible for both syndromes. </p><p>In affected members of 2 unrelated Japanese families with PPS, Matsuzawa et al. (2010) identified 2 different heterozygous mutation in the IRF6 gene (607199.0015 and 607199.0016, respectively). </p><p>In a neonate with a clinical diagnosis of PPS, Leslie et al. (2015) identified a homozygous mutation in the IRF6 gene (607199.0019). The unaffected consanguineous parents were heterozygous for the mutation. </p><p><strong><em>Van der Woude Syndrome-Popliteal Pterygium Syndrome Spectrum</em></strong></p><p>
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In a patient with overlapping features of VWS and PPS (unilateral cleft lip and palate, ankyloblepharon, paramedian lip pits) as well as unilateral renal aplasia and coronal hypospadias, de Medeiros et al. (2008) identified a novel mutation in the IRF6 gene (607199.0013). The patient and his brother, who had hypospadias and nephrocalcinosis but no IRF6 mutation, were both conceived by in vitro fertilization. De Medeiros et al. (2008) suggested that the hypospadias and renal aplasia may have been due to the method of fertilization rather than the IRF6 mutation. They noted that a lethal PPS syndrome (263650) has renal aplasia as a feature. </p>
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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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</h4>
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<span class="mim-text-font">
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Bixler et al. (1973); Frohlich et al. (1977); Gorlin et al. (1968);
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Pashayan and Lewis (1980)
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<p />
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<ol>
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<p class="mim-text-font">
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Bixler, D., Poland, C., III, Nance, W. E.
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<strong>Phenotypic variation in the popliteal pterygium syndrome.</strong>
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Clin. Genet. 4: 220-228, 1973.
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[PubMed: 4203060]
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[Full Text: https://doi.org/10.1111/j.1399-0004.1973.tb01146.x]
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de Medeiros, F., Hansen, L., Mawlad, E., Eiberg, H., Asklund, C., Tommerup, N., Jakobsen, L. P.
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<strong>A novel mutation in IRF6 resulting in VWS-PPS spectrum disorder with renal aplasia.</strong>
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Am. J. Med. Genet. 146A: 1605-1608, 2008.
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[Full Text: https://doi.org/10.1002/ajmg.a.32257]
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Escobar, V., Weaver, D. D.
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<strong>The facio-genito-popliteal syndrome.</strong>
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Birth Defects Orig. Art. Ser. XIV(6B): 185-192, 1978.
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Frohlich, G. S., Starzer, K. L., Tortora, J. M.
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<strong>Popliteal pterygium syndrome: report of a family.</strong>
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J. Pediat. 90: 91-93, 1977.
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[Full Text: https://doi.org/10.1016/s0022-3476(77)80775-0]
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Froster-Iskenius, U. G.
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<strong>Popliteal pterygium syndrome.</strong>
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J. Med. Genet. 27: 320-326, 1990.
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[PubMed: 2352260]
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[Full Text: https://doi.org/10.1136/jmg.27.5.320]
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Ghassibe, M., Revencu, N., Bayet, B., Gillerot, Y., Vanwijck, R., Verellen-Dumoulin, C., Vikkula, M.
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<strong>Six families with van der Woude and/or popliteal pterygium syndrome: all with a mutation in the IRF6 gene.</strong>
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J. Med. Genet. 41: e15, 2004. Note: Electronic Article.
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[PubMed: 14757865]
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[Full Text: https://doi.org/10.1136/jmg.2003.009274]
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Gorlin, R. J., Cohen, M. M., Jr., Levin, L. S.
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<strong>Popliteal pterygium syndrome (facio-genito-popliteal syndrome). Syndromes of the Head and Neck. (3rd ed.)</strong>
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New York: Oxford Univ. Press (pub.) 1990. Pp. 629-631.
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Gorlin, R. J., Pindborg, J. J., Cohen, M. M., Jr.
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<strong>Cleft lip-palate, popliteal pterygium digital and genital anomalies. Syndromes of the Head and Neck. (2nd ed.)</strong>
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New York: Blakiston Division, McGraw-Hill (pub.) 1976. Pp. 121-124.
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Gorlin, R. J., Sedano, H. O., Cervenka, J.
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<strong>Popliteal pterygium syndrome: a syndrome comprising cleft lip-palate, popliteal and intercrural pterygia, digital and genital anomalies.</strong>
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Pediatrics 41: 503-509, 1968.
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[PubMed: 4384166]
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Hecht, F., Jarvinen, J. M.
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<strong>Heritable dysmorphic syndrome with normal intelligence.</strong>
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J. Pediat. 70: 927-935, 1967.
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[PubMed: 6026118]
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Hunter, A.
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<strong>The popliteal pterygium syndrome: report of a new family and review of the literature.</strong>
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Am. J. Med. Genet. 36: 196-208, 1990.
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Kind, H. P.
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<strong>Popliteales Pterygiumsyndrom.</strong>
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Helv. Paediat. Acta 25: 508-516, 1970.
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<p class="mim-text-font">
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Klein, D.
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<strong>Un curieux syndrome hereditaire: cheilo-palatoschizis avec fistules de la levre inferieure associe a une syndactylie, une onychodysplasie particuliere, un pterygion poplite unilateral et des pieds varus equins.</strong>
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J. Genet. Hum. 11: 65-71, 1962.
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[PubMed: 14041701]
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Kondo, S., Schutte, B. C., Richardson, R. J., Bjork, B. C., Knight, A. S., Watanabe, Y., Howard, E., Ferreira de Lima, R. L. L., Daack-Hirsch, S., Sander, A., McDonald-McGinn, D. M., Zackai, E. H., and 14 others.
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<strong>Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. (Letter)</strong>
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Kopits, E.
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<strong>Die als 'Flughaut' bezeichneten Missbildungen und deren operative Behandlung (Musculo-dysplasia congenita).</strong>
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Lees, M. M., Winter, R. M., Malcolm, S., Saal, H. M., Chitty, L.
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[PubMed: 10593995]
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Leslie, E. J., O'Sullivan, J., Cunningham, M. L., Singh, A., Goudy, S. L., Ababneh, F., Alsubaie, L., Ch'ng, G.-S., van der Laar, I. M. B. H., Hoogeboom, A. J. M., Dunnwald, M., Kapoor, S., Jiramongkolchai, P., Standley, J., Manak, J. R., Murray, J. C., Dixon, M. J.
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<strong>Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders.</strong>
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Lewis, E.
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<strong>Congenital webbing of the lower limbs.</strong>
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Proc. Roy. Soc. Med. 41: 864 only, 1948.
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Matsuzawa, N., Kondo, S., Shimozato, K., Nagao, T., Nakano, M., Tsuda, M., Hirano, A., Niikawa, N., Yoshiura, K.
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<strong>Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome.</strong>
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Pashayan, H. M., Lewis, M. B.
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<strong>A family with the popliteal pterygium syndrome.</strong>
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[PubMed: 6928117]
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Pfeiffer, R. A., Tunte, W., Reinken, M.
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<strong>Das Kniepterygium-Syndrom, ein autosomal-dominant vererbtes Missbildungssyndrom.</strong>
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Z. Kinderheilk. 108: 103-116, 1970.
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[PubMed: 4325529]
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Rintala, A. E., Lahti, A. Y., Gylling, U. S.
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<strong>Congenital sinuses of the lower lip in connection with cleft lip and palate.</strong>
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Cleft Palate J. 7: 336-346, 1970.
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[PubMed: 5266345]
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Soekarman, D., Cobben, J. M., Vogels, A., Spauwen, P. H., Fryns, J. P.
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<strong>Variable expression of the popliteal pterygium syndrome in two 3-generation families.</strong>
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Clin. Genet. 47: 169-174, 1995.
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[PubMed: 7628117]
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[Full Text: https://doi.org/10.1111/j.1399-0004.1995.tb03954.x]
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Contributors:
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Nara Sobreira - updated : 09/23/2016<br>Cassandra L. Kniffin - updated : 6/15/2011<br>Marla J. F. O'Neill - updated : 4/6/2011<br>Nara Sobreira - updated : 11/24/2009<br>Victor A. McKusick - updated : 9/4/2002<br>Michael J. Wright - updated : 3/9/2000
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Victor A. McKusick : 6/4/1986
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Edit History:
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carol : 03/24/2022<br>alopez : 02/06/2020<br>alopez : 02/06/2020<br>carol : 09/23/2016<br>carol : 07/09/2016<br>carol : 10/20/2015<br>wwang : 7/22/2011<br>wwang : 6/30/2011<br>ckniffin : 6/15/2011<br>wwang : 4/19/2011<br>terry : 4/6/2011<br>carol : 11/24/2009<br>carol : 7/31/2009<br>carol : 4/21/2006<br>alopez : 10/18/2002<br>alopez : 9/16/2002<br>alopez : 9/6/2002<br>tkritzer : 9/5/2002<br>tkritzer : 9/4/2002<br>alopez : 3/9/2000<br>terry : 7/10/1995<br>mark : 6/27/1995<br>davew : 7/28/1994<br>mimadm : 6/25/1994<br>carol : 6/1/1994<br>supermim : 3/16/1992
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