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Entry
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- #236700 - MCKUSICK-KAUFMAN SYNDROME; MKKS
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- OMIM
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<p>
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<span class="h4">#236700</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/236700"><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="#mapping">Mapping</a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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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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<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 style="display: table-cell;">Clinical Resources</div>
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</a>
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<div><a href="https://clinicaltrials.gov/search?cond=MCKUSICK-KAUFMAN 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=2286&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/NBK1502/" 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/4529" 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/mckusick-kaufman-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=236700[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=2473" 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/c1772054-5cde-4dc5-be71-1bcabcd77065/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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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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</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:0111255" 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/236700" 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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<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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<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> 702407009<br />
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<strong>ORPHA:</strong> 2473<br />
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<strong>DO:</strong> 0111255<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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236700
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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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MCKUSICK-KAUFMAN SYNDROME; MKKS
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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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HYDROMETROCOLPOS SYNDROME<br />
|
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HYDROMETROCOLPOS, POSTAXIAL POLYDACTYLY, AND CONGENITAL HEART MALFORMATION; HMCS<br />
|
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KAUFMAN-MCKUSICK 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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<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/20/97?start=-3&limit=10&highlight=97">
|
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20p12.2
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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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McKusick-Kaufman syndrome
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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<a href="/entry/236700"> 236700 </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 recessive">AR</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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MKKS
|
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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/604896"> 604896 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group ">
|
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<a href="/clinicalSynopsis/236700" 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')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/236700" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/236700" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
|
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<p />
|
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</div>
|
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|
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small" style="margin: 5px">
|
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
|
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<span class="mim-font">
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|
|
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br />
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|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
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|
|
</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Heart </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Congenital heart disease <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13213009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13213009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q24.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q24.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/746.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">746.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0152021&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0152021</a>, <a href="https://bioportal.bioontology.org/search?q=C0018798&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018798</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001627" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001627</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> RESPIRATORY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Lung </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hypoplastic lungs <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80825009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80825009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0265783&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265783</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002089" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002089</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002089" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002089</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Gastrointestinal </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hirschsprung disease (12%) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204739008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204739008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q43.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q43.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019569&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019569</a>, <a href="https://bioportal.bioontology.org/search?q=C3888239&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3888239</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002251" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002251</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002251" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002251</a>]</span><br /> -
|
|
Imperforate anus (8%) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204712000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204712000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q42.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q42.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003466&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003466</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002023" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002023</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002023" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002023</a>]</span><br /> -
|
|
Rectovaginal fistula <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/65619001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">65619001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N82.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N82.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0034895&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0034895</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000143" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000143</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000143" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000143</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> 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">
|
|
|
|
- Hydrometrocolpos <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60023006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60023006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0269209&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0269209</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030010" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030010</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030010" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030010</a>]</span><br /> -
|
|
Transverse vaginal membrane <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q52.11" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q52.11</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/752.46" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">752.46</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856006&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856006</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000145" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000145</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000145" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000145</a>]</span><br /> -
|
|
Vaginal atresia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1321884&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1321884</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003250</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000148" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000148</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000148" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000148</a>]</span><br /> -
|
|
Vaginal stenosis <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N89.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N89.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856007&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856007</a>]</span><br /> -
|
|
Rectovaginal fistula <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/65619001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">65619001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N82.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N82.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0034895&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0034895</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000143" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000143</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000143" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000143</a>]</span><br /> -
|
|
Vesicovaginal fistula <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/89405008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">89405008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N82.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N82.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0042582&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0042582</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001586" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001586</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001586" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001586</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
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|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Kidneys </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hydronephrosis (secondary to ureteral compression from hydrometrocolpos) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856008&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856008</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/43064006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">43064006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N13.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N13.30</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/591" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">591</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000126" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000126</a>]</span><br /> -
|
|
Polycystic kidney <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/82525005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">82525005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q61.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q61.3</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/753.12" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">753.12</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1567435&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1567435</a>, <a href="https://bioportal.bioontology.org/search?q=C0022680&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022680</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000113" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000113</a>]</span><br />
|
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|
</span>
|
|
</div>
|
|
</div>
|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ureters </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hydroureter <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/69758005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">69758005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95576001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95576001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N28.82" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N28.82</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N13.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N13.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/593.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">593.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0521620&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0521620</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000072" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000072</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000072" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000072</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Bladder </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Vesicovaginal fistula <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/89405008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">89405008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N82.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N82.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0042582&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0042582</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001586" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001586</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001586" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001586</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
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|
|
|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Pelvis </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Congenital dislocation of the hip <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48334007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48334007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q65.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q65.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/754.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">754.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0019555&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0019555</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001374" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001374</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001374" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001374</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Hands </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Mesoaxial polydactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/205130008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">205130008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0431903&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0431903</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100260</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100260" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100260</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=0bd7caf43e48899064d5f6569f72a6d9" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/vWEhEpqKQUBAq_DvuhSWyngtar4Du7hF-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=0bd7caf43e48899064d5f6569f72a6d9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
|
|
Postaxial polydactyly <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0220697&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0220697</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100259" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100259</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100259" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100259</a>]</span><br /> -
|
|
Syndactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/373413006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">373413006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q70.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q70.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q70" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q70</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/755.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">755.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2117411&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2117411</a>, <a href="https://bioportal.bioontology.org/search?q=C0039075&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0039075</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001159" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001159</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001159" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001159</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=bcc47de729f2f227ecf8427f5adf6d12" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Foot,Osseous_Syndactyly_of-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=bcc47de729f2f227ecf8427f5adf6d12" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
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|
|
</span>
|
|
</div>
|
|
</div>
|
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|
|
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</div>
|
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|
|
</div>
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|
|
|
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|
|
|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MUSCLE, SOFT TISSUES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Leg edema <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0235886&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0235886</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010741" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010741</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010741" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010741</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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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
|
|
<span class="mim-font">
|
|
|
|
- Because of overlap with Bardet-Biedl syndrome (<a href="/entry/209900">209900</a>), patients should be followed by ophthalmology for development of cone-rod dystrophy until at least 10 years of age<br /> -
|
|
Found predominantly in the Amish population<br /> -
|
|
Allelic to Bardet-Biedl syndrome 6 (<a href="/entry/209900">209900</a>)<br />
|
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|
|
</span>
|
|
</div>
|
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</div>
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</div>
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<div>
|
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<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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|
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<div>
|
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<span class="mim-font">
|
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|
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- Caused by mutation in the MKKS gene (MKKS, <a href="/entry/604896#0001">604896.0001</a>)<br />
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<p>A number sign (#) is used with this entry because of evidence that the McKusick-Kaufman syndrome (MKKS) is caused by homozygous or compound heterozygous mutation in the MKKS gene (<a href="/entry/604896">604896</a>) on chromosome 20p12.</p><p>Mutation in the MKKS gene also causes Bardet-Biedl syndrome-6 (BBS6; <a href="/entry/605231">605231</a>).</p>
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<p>McKusick-Kaufman syndrome (MKKS) is an autosomal recessive disorder characterized by genitourinary malformations, especially hydrometrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations (summary by <a href="#28" class="mim-tip-reference" title="Schaefer, E., Durand, M., Stoetzel, C., Doray, B., Viville, B., Helle, S., Danse, J.-M., Hamel, C., Bitoun, P., Goldenberg, A., Finck, S., Faivre, L., and 9 others. <strong>Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes.</strong> Europ. J. Med. Genet. 54: 157-160, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21044901/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21044901</a>] [<a href="https://doi.org/10.1016/j.ejmg.2010.10.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21044901">Schaefer et al., 2011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21044901" 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>Hydrometrocolpos develops in the female fetus as a result of transverse vaginal membrane and excessive cervical secretions in response to maternal hormone. <a href="#17" class="mim-tip-reference" title="McKusick, V. A., Bauer, R. L., Koop, C. E., Scott, R. B. <strong>Hydrometrocolpos as a simply inherited malformation.</strong> JAMA 189: 813-816, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14172277/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14172277</a>] [<a href="https://doi.org/10.1001/jama.1964.03070110015003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14172277">McKusick et al. (1964)</a> presented evidence that at least one form is inherited as an autosomal recessive. Birth of another affected female in a third sibship closely related to 1 of the 2 reported in 1964 further strengthened the conclusion (<a href="#18" class="mim-tip-reference" title="McKusick, V. A., Weilbaecher, R. G., Gragg, G. W. <strong>Recessive inheritance of a congenital malformation syndrome.</strong> JAMA 204: 113-118, 1968.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5694533/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5694533</a>]" pmid="5694533">McKusick et al., 1968</a>). The observation of 3 more affected sibships among the Amish and further studies of the earlier 3 sibships corroborated the validity of this syndrome (<a href="#19" class="mim-tip-reference" title="McKusick, V. A. <strong>Medical Genetic Studies of the Amish: Selected Papers.</strong> Baltimore: Johns Hopkins Univ. Press (pub.) 1978. Pp. 318-323."None>McKusick, 1978</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14172277+5694533" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Kaufman, R. L., Hartmann, A. F., McAlister, W. H. <strong>Family studies in congenital heart disease, II: A syndrome of hydrometrocolpos, postaxial polydactyly and congenital heart disease.</strong> Birth Defects Orig. Art. Ser. VIII(5): 85-87, 1972."None>Kaufman et al. (1972)</a> suggested that postaxial polydactyly and/or congenital heart disease may sometimes accompany hydrometrocolpos. In the kindred of <a href="#17" class="mim-tip-reference" title="McKusick, V. A., Bauer, R. L., Koop, C. E., Scott, R. B. <strong>Hydrometrocolpos as a simply inherited malformation.</strong> JAMA 189: 813-816, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14172277/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14172277</a>] [<a href="https://doi.org/10.1001/jama.1964.03070110015003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14172277">McKusick et al. (1964)</a>, one of the girls with hydrometrocolpos had postaxial polydactyly and another girl in the same sibship had polydactyly and congenital heart disease without hydrometrocolpos. Others have reported hydrometrocolpos and polydactyly in isolated cases (e.g., <a href="#22" class="mim-tip-reference" title="Pare, C., Elhilali, M. <strong>Hydrometrocolpos, polydactylie, hemihypertrophie.</strong> Un. Med. Canada 101: 1311-1315, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5042188/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5042188</a>]" pmid="5042188">Pare and Elhilali, 1972</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14172277+5042188" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Dungy, C. I., Aptekar, R. G., Cann, H. M. <strong>Hereditary hydrometrocolpos with polydactyly in infancy.</strong> Pediatrics 47: 138-141, 1971.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5545396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5545396</a>]" pmid="5545396">Dungy et al. (1971)</a> found hydrometrocolpos secondary to vaginal atresia and bilateral postaxial hexadactyly in an offspring of first-cousin parents. A comparable disorder, imperforate vagina, is autosomal recessive in the mouse (<a href="#8" class="mim-tip-reference" title="Gowen, J. W., Heidenthal, G. <strong>Imperforate vagina in the mouse, its inheritance and relation to endocrine function.</strong> J. Exp. Zool. 89: 433-450, 1942."None>Gowen and Heidenthal, 1942</a>; <a href="#1" class="mim-tip-reference" title="Chase, E. B. <strong>Inheritance of imperforate vagina of the mouse.</strong> J. Hered. 35: 363-364, 1944."None>Chase, 1944</a>). If the membrane which closes the vagina is removed surgically, the mouse is fully viable and fertile. If untreated, the malformation leads to death about the time of puberty. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5545396" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Goecke, T., Dopfer, R., Huenges, R., Conzelmann, W., Feller, A., Majewski, F. <strong>Hydrometrocolpos, postaxial polydactyly, congenital heart disease, and anomalies of the gastrointestinal and genitourinary tracts: a rare autosomal recessive syndrome.</strong> Europ. J. Pediat. 136: 297-305, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7262101/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7262101</a>] [<a href="https://doi.org/10.1007/BF00442998" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7262101">Goecke et al. (1981)</a> made the important observation that glanular hypospadias and prominent scrotal raphe are manifestations in the male. Postaxial polydactyly is an expression of the syndrome in males. The polydactyly may be limited to one limb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7262101" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#36" class="mim-tip-reference" title="Vince, J. D., Martin, N. J. <strong>McKusick-Kaufman syndrome: report of an instructive family.</strong> Am. J. Med. Genet. 32: 174-177, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2564737/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2564737</a>] [<a href="https://doi.org/10.1002/ajmg.1320320206" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2564737">Vince and Martin (1989)</a> described 3 affected sibs (2 females and 1 male) in a presumably nonconsanguineous Melanesian family. All 3 had anomalies of the urogenital and cardiovascular systems as well as polydactyly. The brother showed micropenis, glanular hypospadias, and bilaterally undescended testes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2564737" 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 Beirut, <a href="#34" class="mim-tip-reference" title="Suidan, F. G., Azoury, R. S. <strong>The transverse vaginal septum: a clinicopathologic evaluation.</strong> Obstet. Gynec. 54: 278-283, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/471367/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">471367</a>]" pmid="471367">Suidan and Azoury (1979)</a> observed 12 cases of transverse vaginal septum. They suggested that a high frequency might be related to a high frequency of consanguinity in the population they served. All their patients presented in adulthood; the 2 youngest were 16. Only 1 had a complete vaginal septum. <a href="#20" class="mim-tip-reference" title="McKusick, V. A. <strong>Personal Communication.</strong> Baltimore, Md. 1980."None>McKusick (1980)</a> noted that incomplete vaginal septum as a forme fruste had not been observed in the Amish families. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=471367" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#13" class="mim-tip-reference" title="Knowles, J. C., Brandt, I. K., Bull, M. J. <strong>Kaufman syndrome (hydrometrocolpos, polydactyly, and congenital heart disease) with pituitary dysplasia, choanal atresia, and vertebral anomalies.</strong> Am. J. Med. Genet. 8: 389-393, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7246610/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7246610</a>] [<a href="https://doi.org/10.1002/ajmg.1320080404" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7246610">Knowles et al. (1981)</a> observed choanal atresia, pituitary dysplasia, and vertebral anomalies in a patient with this syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7246610" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#26" class="mim-tip-reference" title="Rosen, R. S., Bocian, M. E. <strong>Non-immune hydrops fetalis in the McKusick-Kaufman syndrome. (Abstract)</strong> Am. J. Hum. Genet. 45 (suppl.): A61 only, 1989."None>Rosen and Bocian (1989)</a> presented evidence that in this disorder nonimmune hydrops fetalis can be a cause of the edema that is mistakenly attributed to inferior vena cava compression and lymphatic obstruction by a large pelvic mass.</p><p><a href="#2" class="mim-tip-reference" title="Davenport, M., Taitz, L. S., Dickson, J. A. S. <strong>The Kaufman-McKusick syndrome: another association.</strong> J. Pediat. Surg. 24: 1192-1194, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2681663/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2681663</a>] [<a href="https://doi.org/10.1016/s0022-3468(89)80118-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2681663">Davenport et al. (1989)</a> described a male infant with polydactyly, consisting of partial duplication of the third metacarpal and a postaxial accessory digit on both hands and postaxial accessory digits on the feet, as well as penoscrotal hypospadias with chordee. There was no evidence of congenital heart disease. Hirschsprung disease (<a href="/entry/142623">142623</a>) was established by rectal biopsy. A previous pregnancy had resulted in the intrauterine death of a female fetus with typical features of the Kaufman-McKusick syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2681663" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#27" class="mim-tip-reference" title="Schaap, C., de Die-Smulders, C. E. M., Kuijten, R. H., Fryns, J. P. <strong>McKusick-Kaufman syndrome: the diagnostic challenge of abdominal distension in the neonatal period.</strong> Europ. J. Pediat. 151: 583-585, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1505577/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1505577</a>] [<a href="https://doi.org/10.1007/BF01957727" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1505577">Schaap et al. (1992)</a> described a patient. <a href="#24" class="mim-tip-reference" title="Pul, N., Pul, M., Gedik, Y. <strong>McKusick-Kaufman syndrome associated with esophageal atresia and distal tracheoesophageal fistula: a case report and review of the literature.</strong> Am. J. Med. Genet. 49: 341-343, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8209897/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8209897</a>] [<a href="https://doi.org/10.1002/ajmg.1320490320" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8209897">Pul et al. (1994)</a> described a female infant, the offspring of a first-cousin marriage, who, in addition to the other features of the Kaufman-McKusick syndrome, had esophageal atresia and distal tracheoesophageal fistula. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8209897+1505577" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#30" class="mim-tip-reference" title="Slavotinek, A. M., Dutra, A., Kpodzo, D., Pak, E., Nakane, T., Turner, J., Whiteford, M., Biesecker, L. G., Stratton, P. <strong>A female with complete lack of mullerian fusion, postaxial polydactyly, and tetralogy of Fallot: genetic heterogeneity of McKusick-Kaufman syndrome or a unique syndrome?</strong> Am. J. Med. Genet. 129A: 69-72, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15266619/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15266619</a>] [<a href="https://doi.org/10.1002/ajmg.a.30071" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15266619">Slavotinek et al. (2004)</a> reported a 19-year-old, non-Amish Caucasian female patient with a triad of anomalies: primary amenorrhea caused by complete lack of mullerian fusion with vaginal agenesis or mullerian aplasia, postaxial polydactyly, and tetralogy of Fallot. The genital tract anomaly of mullerian aplasia with or without renal or skeletal anomalies comprises Mayer-Rokitansky-Kuster-Hauser syndrome (<a href="/entry/277000">277000</a>), which had never been reported with tetralogy of Fallot. The phenotypic triad of anomalies was thought to resemble most closely McKusick-Kaufman syndrome. The dual midline fusion defects of tetralogy of Fallot and mullerian aplasia suggested that either this patient had a unique syndrome with a distinct genetic etiology or that she had a genetically heterogeneous or variant form of McKusick-Kaufman syndrome. No mutation was found in the MKKS/BBS6 gene on 20p12, nor in other genes associated with Bardet-Biedl syndrome, BBS1 (<a href="/entry/209901">209901</a>), BBS2 (<a href="/entry/606151">606151</a>), BBS4 (<a href="/entry/600374">600374</a>), and BBS7 (<a href="/entry/607590">607590</a>). Fluorescence in situ hybridization excluded large deletions of 20p12, and microsatellite marker studies confirmed biparental inheritance for all known BBS loci. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15266619" 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>Studying Amish individuals with what they called the hydrometrocolpos syndrome (HMCS) originally reported by <a href="#17" class="mim-tip-reference" title="McKusick, V. A., Bauer, R. L., Koop, C. E., Scott, R. B. <strong>Hydrometrocolpos as a simply inherited malformation.</strong> JAMA 189: 813-816, 1964.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14172277/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14172277</a>] [<a href="https://doi.org/10.1001/jama.1964.03070110015003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14172277">McKusick et al. (1964)</a>, Stone et al. (<a href="#33" class="mim-tip-reference" title="Stone, D., Schaffer, A., Agarwala, R., Francomano, C. A., Biesecker, L. G. <strong>Genetic and physical mapping of the McKusick-Kaufmann (sic) (hydrometrocolpos-polydactyly) syndrome. (Abstract)</strong> Am. J. Hum. Genet. 61 (suppl.): A13 only, 1997."None>1997</a>, <a href="#31" class="mim-tip-reference" title="Stone, D. L., Agarwala, R., Schaffer, A. A., Weber, J. L., Vaske, D., Oda, T., Chandrasekharappa, S. C., Francomano, C. A., Biesecker, L. G. <strong>Genetic and physical mapping of the McKusick-Kaufman syndrome.</strong> Hum. Molec. Genet. 7: 475-481, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9467007/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9467007</a>] [<a href="https://doi.org/10.1093/hmg/7.3.475" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9467007">1998</a>) used homozygosity mapping to locate the gene for this disorder to 20p12, bounded by markers D20S894 and D20S175. The linkage data showed that 3 individuals (2 females and 1 male) were homozygous for the disease-carrying haplotype but had no apparent manifestations of the disorder. One was the mother of an affected sibship and the other 2 were sibs of affected persons. It is possible that the homozygous, apparently unaffected, sibs had a minor cardiac defect or, in the case of the female, an undiagnosed uterine anomaly. The mapping region included the jagged-1 gene (JAG1; <a href="/entry/601920">601920</a>), which is mutant in Alagille syndrome-1 (<a href="/entry/118450">118450</a>). <a href="#31" class="mim-tip-reference" title="Stone, D. L., Agarwala, R., Schaffer, A. A., Weber, J. L., Vaske, D., Oda, T., Chandrasekharappa, S. C., Francomano, C. A., Biesecker, L. G. <strong>Genetic and physical mapping of the McKusick-Kaufman syndrome.</strong> Hum. Molec. Genet. 7: 475-481, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9467007/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9467007</a>] [<a href="https://doi.org/10.1093/hmg/7.3.475" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9467007">Stone et al. (1998)</a> sequenced the JAG1 gene in 2 unrelated individuals with McKusick-Kaufman syndrome and found no disease-causing mutations. <a href="#31" class="mim-tip-reference" title="Stone, D. L., Agarwala, R., Schaffer, A. A., Weber, J. L., Vaske, D., Oda, T., Chandrasekharappa, S. C., Francomano, C. A., Biesecker, L. G. <strong>Genetic and physical mapping of the McKusick-Kaufman syndrome.</strong> Hum. Molec. Genet. 7: 475-481, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9467007/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9467007</a>] [<a href="https://doi.org/10.1093/hmg/7.3.475" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9467007">Stone et al. (1998)</a> stated that the peak 2-point lod score was 3.33, and the peak 3-point lod score was 5.21. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14172277+9467007" 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="#3" class="mim-tip-reference" title="David, A., Bitoun, P., Lacombe, D., Lambert, J.-C., Nivelon, A., Vigneron, J., Verloes, A. <strong>Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes.</strong> J. Med. Genet. 36: 599-603, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10465109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10465109</a>]" pmid="10465109">David et al. (1999)</a> reported 9 patients who, because of the presence of vaginal atresia and postaxial polydactyly, were diagnosed in infancy with McKusick-Kaufman syndrome; these patients later developed obesity and retinal dystrophy and were diagnosed with Bardet-Biedl syndrome. <a href="#3" class="mim-tip-reference" title="David, A., Bitoun, P., Lacombe, D., Lambert, J.-C., Nivelon, A., Vigneron, J., Verloes, A. <strong>Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes.</strong> J. Med. Genet. 36: 599-603, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10465109/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10465109</a>]" pmid="10465109">David et al. (1999)</a> suggested that the phenotypic overlap between McKusick-Kaufman syndrome and Bardet-Biedl syndrome is a diagnostic pitfall, and that all children in whom a diagnosis of McKusick-Kaufman syndrome is made in infancy should be reevaluated for retinitis pigmentosa and other signs of Bardet-Biedl in later childhood. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10465109" 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>Hydrometrocolpos and postaxial polydactyly are common to both McKusick-Kaufman syndrome and Bardet-Biedl syndrome. <a href="#29" class="mim-tip-reference" title="Slavotinek, A. M., Biesecker, L. G. <strong>Phenotypic overlap of McKusick-Kaufman syndrome with Bardet-Biedl syndrome: a literature review.</strong> Am. J. Med. Genet. 95: 208-215, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11102925/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11102925</a>]" pmid="11102925">Slavotinek and Biesecker (2000)</a> reviewed reported cases of both syndromes presenting with hydrometrocolpos and postaxial polydactyly early in life, to determine if there are clinical features that allow discrimination between the 2 syndromes, as the primary features of retinitis pigmentosa, obesity, and learning disability in Bardet-Biedl syndrome are age-dependent. They did not find any phenotypic features that allowed reliable differentiation between the 2 syndromes in the neonatal period. However, uterine, ovarian, and fallopian tube anomalies were more common in BBS patients. <a href="#29" class="mim-tip-reference" title="Slavotinek, A. M., Biesecker, L. G. <strong>Phenotypic overlap of McKusick-Kaufman syndrome with Bardet-Biedl syndrome: a literature review.</strong> Am. J. Med. Genet. 95: 208-215, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11102925/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11102925</a>]" pmid="11102925">Slavotinek and Biesecker (2000)</a> concluded that sporadic cases of hydrometrocolpos and postaxial polydactyly in female patients cannot be diagnosed with MKKS until at least age 5 years and that monitoring for the complications of BBS should be performed in these patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11102925" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#28" class="mim-tip-reference" title="Schaefer, E., Durand, M., Stoetzel, C., Doray, B., Viville, B., Helle, S., Danse, J.-M., Hamel, C., Bitoun, P., Goldenberg, A., Finck, S., Faivre, L., and 9 others. <strong>Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes.</strong> Europ. J. Med. Genet. 54: 157-160, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21044901/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21044901</a>] [<a href="https://doi.org/10.1016/j.ejmg.2010.10.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21044901">Schaefer et al. (2011)</a> suggested that MKKS may be an extremely rare presentation of BBS (absence of retinal degeneration, obesity, and cognitive impairment) linked to rare specific allelic variants of the MKKS gene (possibly hypomorphic alleles) or a condition implying one or more other genes (as modifiers or major genes). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21044901" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#35" class="mim-tip-reference" title="Unsinn, K. M., Neu, N., Krejci, A., Posch, A., Menardi, G., Gassner, I. <strong>Pallister-Hall syndrome and McKusick-Kaufmann (sic) syndrome: one entity?</strong> J. Med. Genet. 32: 125-128, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7760322/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7760322</a>] [<a href="https://doi.org/10.1136/jmg.32.2.125" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7760322">Unsinn et al. (1995)</a> described a patient who had hydrocolpos and postaxial polydactyly as well as hypothalamic hamartoblastoma, raising the possibility that the Pallister-Hall syndrome (PHS; <a href="/entry/146510">146510</a>) and the McKusick-Kaufman syndrome are one entity. The Pallister-Hall syndrome is characterized by specific facial anomalies, postaxial polydactyly, imperforate anus, and brain anomalies, including a diencephalic hamartoblastoma. <a href="#21" class="mim-tip-reference" title="McKusick, V. A. <strong>Personal Communication.</strong> Baltimore, Md. 1995."None>McKusick (1995)</a> stated that in his judgment these were not the same entity. <a href="#15" class="mim-tip-reference" title="Lurie, I. W. <strong>Pallister-Hall and McKusick-Kaufman syndromes. (Letter)</strong> J. Med. Genet. 32: 668-672, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7473667/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7473667</a>] [<a href="https://doi.org/10.1136/jmg.32.8.668-a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7473667">Lurie (1995)</a> also questioned that the Kaufman-McKusick syndrome and the Pallister-Hall syndrome can be considered one entity. <a href="#14" class="mim-tip-reference" title="Lurie, I. W., Wulfsberg, E. A. <strong>The McKusick-Kaufmann syndrome: phenotypic variation observed in familial cases as a clue for the evaluation of sporadic cases.</strong> Genet. Counsel. 5: 275-281, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7811428/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7811428</a>]" pmid="7811428">Lurie and Wulfsberg (1994)</a> found in a survey of 43 reported familial cases neither preaxial nor central forms of polydactyly. <a href="#15" class="mim-tip-reference" title="Lurie, I. W. <strong>Pallister-Hall and McKusick-Kaufman syndromes. (Letter)</strong> J. Med. Genet. 32: 668-672, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7473667/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7473667</a>] [<a href="https://doi.org/10.1136/jmg.32.8.668-a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7473667">Lurie (1995)</a> stated that he also did not remember vaginourethral fistula as occurring in these patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7473667+7811428+7760322" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Prenatal Diagnosis</em></strong></p><p>
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<a href="#5" class="mim-tip-reference" title="Farrell, S. A., Davidson, R. G., DeMaria, J. E., Grant, L., Toi, A. <strong>Abdominal distension in Kaufman-McKusick syndrome.</strong> Am. J. Med. Genet. 25: 205-210, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3535500/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3535500</a>] [<a href="https://doi.org/10.1002/ajmg.1320250202" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3535500">Farrell et al. (1986)</a> described prenatal diagnosis of MKKS by ultrasonography and recurrence of abdominal distention due to peritoneal cysts. They suggested that retrograde flow of secretions from the uterus may be a factor in the abdominal distention of hydrometrocolpos. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3535500" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The transmission pattern of MKKS in the patients reported by <a href="#32" class="mim-tip-reference" title="Stone, D. L., Slavotinek, A., Bouffard, G. G., Banerjee-Basu, S., Baxevanis, A. D., Barr, M., Biesecker, L. G. <strong>Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome.</strong> Nature Genet. 25: 79-82, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10802661/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10802661</a>] [<a href="https://doi.org/10.1038/75637" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10802661">Stone et al. (2000)</a> was consistent with autosomal recessive inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10802661" 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="#32" class="mim-tip-reference" title="Stone, D. L., Slavotinek, A., Bouffard, G. G., Banerjee-Basu, S., Baxevanis, A. D., Barr, M., Biesecker, L. G. <strong>Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome.</strong> Nature Genet. 25: 79-82, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10802661/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10802661</a>] [<a href="https://doi.org/10.1038/75637" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10802661">Stone et al. (2000)</a> analyzed the approximately 450-kb candidate region on chromosome 20p12 by sample sequencing, which revealed the presence of several known genes and EST clusters. Candidate transcripts were evaluated by Northern blot analysis of adult and fetal tissues. One transcript with widespread expression was selected for analysis in a patient from the Amish pedigree and a sporadic non-Amish case. The Old Order Amish patient was found to be homozygous for 2 missense substitutions in cis (<a href="/entry/604896#0001">604896.0001</a>) and the non-Amish patient was a compound heterozygote for a frameshift mutation predicting premature protein truncation (<a href="/entry/604896#0004">604896.0004</a>) and a distinct missense mutation (<a href="/entry/604896#0003">604896.0003</a>). The MKKS predicted protein showed amino acid similarity to the chaperonin family of proteins, suggesting a role for protein processing in limb, cardiac, and reproductive system development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10802661" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#6" class="mim-tip-reference" title="Fath, M. A., Mullins, R. F., Searby, C., Nishimura, D. Y., Wei, J., Rahmouni, K., Davis, R. E., Tayeh, M. K., Andrews, M., Yang, B., Sigmund, C. D., Stone, E. M., Sheffield, V. C. <strong>Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome.</strong> Hum. Molec. Genet. 14: 1109-1118, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15772095/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15772095</a>] [<a href="https://doi.org/10.1093/hmg/ddi123" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15772095">Fath et al. (2005)</a> developed an Mkks -/- mouse model in which affected animals demonstrated retinal degeneration, failure of spermatozoa flagella formation, elevated blood pressure, olfactory deficits, and social dominance, but no polydactyly nor vaginal abnormalities. The phenotype of the Mkks -/- mice closely resembled the phenotype of other mouse models of Bardet-Biedl syndrome (Bbs2 -/- and Bbs4 -/-). <a href="#6" class="mim-tip-reference" title="Fath, M. A., Mullins, R. F., Searby, C., Nishimura, D. Y., Wei, J., Rahmouni, K., Davis, R. E., Tayeh, M. K., Andrews, M., Yang, B., Sigmund, C. D., Stone, E. M., Sheffield, V. C. <strong>Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome.</strong> Hum. Molec. Genet. 14: 1109-1118, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15772095/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15772095</a>] [<a href="https://doi.org/10.1093/hmg/ddi123" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15772095">Fath et al. (2005)</a> suggested that the complete absence of the MKKS gene leads to BBS while the MKKS phenotype is likely to be due to specific mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15772095" 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="#Hall1981" class="mim-tip-reference" title="Hall, J. G. <strong>Kaufman syndrome. (Editorial)</strong> Am. J. Med. Genet. 8: 395-396, 1981.">Hall (1981)</a>; <a href="#Haspeslagh1981" class="mim-tip-reference" title="Haspeslagh, M., Fryns, J. P., Van den Berghe, K., Goddeeris, P., Lauweryns, J., Van den Berghe, H. <strong>Hydrometrocolpos--polydactyly syndrome in a macerated female foetus.</strong> Europ. J. Pediat. 136: 307-309, 1981.">Haspeslagh et al. (1981)</a>; <a href="#Jabs1982" class="mim-tip-reference" title="Jabs, E. W., Leonard, C. O., Phillips, J. A. <strong>New features of the McKusick-Kaufman syndrome.</strong> Birth Defects Orig. Art. Ser. XVIII(3B): 161-166, 1982.">Jabs et al. (1982)</a>; <a href="#MacLachlan1980" class="mim-tip-reference" title="MacLachlan, A. K., Houston, C. S., Chudley, A. E. <strong>Hydrometrocolpos in Kaufman syndrome.</strong> J. Canad. Assoc. Radiol. 31: 193-195, 1980.">MacLachlan
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et al. (1980)</a>; <a href="#Pinsky1983" class="mim-tip-reference" title="Pinsky, L. <strong>Origin of the 'associated' anomalies in Kaufman-McKusick syndrome. (Letter)</strong> Am. J. Med. Genet. 14: 791-792, 1983.">Pinsky (1983)</a>; <a href="#Robinow1979" class="mim-tip-reference" title="Robinow, M., Shaw, A. <strong>The McKusick-Kaufman syndrome: recessively inherited vaginal atresia, hydrometrocolpos, uterovaginal duplications, anorectal anomalies, postaxial polydactyly, and congenital heart disease.</strong> J. Pediat. 94: 776-778, 1979.">Robinow and Shaw (1979)</a>
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[<a href="https://doi.org/10.1002/ajmg.1320250202" target="_blank">Full Text</a>]
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Fath, M. A., Mullins, R. F., Searby, C., Nishimura, D. Y., Wei, J., Rahmouni, K., Davis, R. E., Tayeh, M. K., Andrews, M., Yang, B., Sigmund, C. D., Stone, E. M., Sheffield, V. C.
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[<a href="https://doi.org/10.1093/hmg/ddi123" target="_blank">Full Text</a>]
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<strong>Hydrometrocolpos, postaxial polydactyly, congenital heart disease, and anomalies of the gastrointestinal and genitourinary tracts: a rare autosomal recessive syndrome.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7262101/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7262101</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7262101" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00442998" target="_blank">Full Text</a>]
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<strong>Kaufman syndrome. (Editorial)</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7246611/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7246611</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7246611" 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.1320080405" target="_blank">Full Text</a>]
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<a id="Haspeslagh1981" class="mim-anchor"></a>
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<div class="">
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Haspeslagh, M., Fryns, J. P., Van den Berghe, K., Goddeeris, P., Lauweryns, J., Van den Berghe, H.
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<strong>Hydrometrocolpos--polydactyly syndrome in a macerated female foetus.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7262102/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7262102</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7262102" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00442999" target="_blank">Full Text</a>]
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<strong>New features of the McKusick-Kaufman syndrome.</strong>
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[<a href="https://doi.org/10.1002/ajmg.1320080404" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.32.8.668-a" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7419550/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7419550</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7419550" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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McKusick, V. A., Bauer, R. L., Koop, C. E., Scott, R. B.
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JAMA 189: 813-816, 1964.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14172277/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14172277</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14172277" 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/10.1001/jama.1964.03070110015003" target="_blank">Full Text</a>]
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<a id="McKusick1968" class="mim-anchor"></a>
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<a id="McKusick1978" class="mim-anchor"></a>
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<p class="mim-text-font">
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[<a href="https://doi.org/10.1002/ajmg.1320140424" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320490320" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(79)80155-9" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1505577/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1505577</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1505577" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF01957727" target="_blank">Full Text</a>]
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<a id="Schaefer2011" class="mim-anchor"></a>
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<div class="">
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Schaefer, E., Durand, M., Stoetzel, C., Doray, B., Viville, B., Helle, S., Danse, J.-M., Hamel, C., Bitoun, P., Goldenberg, A., Finck, S., Faivre, L., and 9 others.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21044901/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21044901</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21044901" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ejmg.2010.10.004" target="_blank">Full Text</a>]
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<a id="Slavotinek2000" class="mim-anchor"></a>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11102925/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11102925</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11102925" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Slavotinek2004" class="mim-anchor"></a>
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Slavotinek, A. M., Dutra, A., Kpodzo, D., Pak, E., Nakane, T., Turner, J., Whiteford, M., Biesecker, L. G., Stratton, P.
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<strong>A female with complete lack of mullerian fusion, postaxial polydactyly, and tetralogy of Fallot: genetic heterogeneity of McKusick-Kaufman syndrome or a unique syndrome?</strong>
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Am. J. Med. Genet. 129A: 69-72, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15266619/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15266619</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15266619" 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.30071" target="_blank">Full Text</a>]
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<a id="Stone1998" class="mim-anchor"></a>
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<div class="">
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Stone, D. L., Agarwala, R., Schaffer, A. A., Weber, J. L., Vaske, D., Oda, T., Chandrasekharappa, S. C., Francomano, C. A., Biesecker, L. G.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9467007/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9467007</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9467007" 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/10.1093/hmg/7.3.475" target="_blank">Full Text</a>]
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<a id="Stone2000" class="mim-anchor"></a>
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Stone, D. L., Slavotinek, A., Bouffard, G. G., Banerjee-Basu, S., Baxevanis, A. D., Barr, M., Biesecker, L. G.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10802661/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10802661</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10802661" 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/10.1038/75637" target="_blank">Full Text</a>]
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<strong>Genetic and physical mapping of the McKusick-Kaufmann (sic) (hydrometrocolpos-polydactyly) syndrome. (Abstract)</strong>
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<a id="Suidan1979" class="mim-anchor"></a>
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<p class="mim-text-font">
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<strong>The transverse vaginal septum: a clinicopathologic evaluation.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/471367/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">471367</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=471367" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Unsinn1995" class="mim-anchor"></a>
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Unsinn, K. M., Neu, N., Krejci, A., Posch, A., Menardi, G., Gassner, I.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7760322/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7760322</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7760322" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1136/jmg.32.2.125" target="_blank">Full Text</a>]
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<a id="Vince1989" class="mim-anchor"></a>
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<div class="">
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Vince, J. D., Martin, N. J.
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<strong>McKusick-Kaufman syndrome: report of an instructive family.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2564737/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2564737</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2564737" 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.1320320206" target="_blank">Full Text</a>]
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<br />
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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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 A. Bocchini - updated : 6/24/2014
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George E. Tiller - updated : 5/19/2008<br>Victor A. McKusick - updated : 1/11/2005<br>Victor A. McKusick - updated : 11/10/2000<br>Ada Hamosh - updated : 4/28/2000<br>Michael J. Wright - updated : 10/27/1999<br>Victor A. McKusick - updated : 4/24/1998<br>Victor A. McKusick - updated : 10/22/1997
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Victor A. McKusick : 6/3/1986
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carol : 08/12/2023
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carol : 11/04/2022<br>alopez : 06/13/2017<br>carol : 12/11/2014<br>carol : 6/24/2014<br>carol : 6/24/2014<br>carol : 6/24/2014<br>carol : 6/19/2014<br>terry : 6/3/2009<br>alopez : 12/29/2008<br>wwang : 5/20/2008<br>terry : 5/19/2008<br>carol : 8/16/2006<br>carol : 10/5/2005<br>alopez : 1/19/2005<br>wwang : 1/18/2005<br>wwang : 1/14/2005<br>wwang : 1/12/2005<br>terry : 1/11/2005<br>carol : 11/18/2004<br>carol : 8/19/2004<br>cwells : 5/29/2002<br>terry : 5/10/2002<br>alopez : 10/5/2001<br>terry : 6/5/2001<br>mcapotos : 11/16/2000<br>mcapotos : 11/15/2000<br>terry : 11/10/2000<br>alopez : 4/29/2000<br>terry : 4/28/2000<br>alopez : 10/27/1999<br>alopez : 9/8/1998<br>carol : 4/24/1998<br>terry : 4/14/1998<br>terry : 4/9/1998<br>terry : 10/28/1997<br>alopez : 10/28/1997<br>terry : 10/22/1997<br>mark : 10/2/1995<br>terry : 8/1/1995<br>davew : 6/2/1994<br>carol : 6/1/1994<br>pfoster : 3/24/1994<br>warfield : 3/8/1994
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<strong>#</strong> 236700
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MCKUSICK-KAUFMAN SYNDROME; MKKS
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<em>Alternative titles; symbols</em>
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HYDROMETROCOLPOS SYNDROME<br />
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HYDROMETROCOLPOS, POSTAXIAL POLYDACTYLY, AND CONGENITAL HEART MALFORMATION; HMCS<br />
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KAUFMAN-MCKUSICK SYNDROME
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<strong>SNOMEDCT:</strong> 702407009;
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<strong>ORPHA:</strong> 2473;
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<strong>DO:</strong> 0111255;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus <br /> MIM number
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20p12.2
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McKusick-Kaufman syndrome
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<span class="mim-font">
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236700
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Autosomal recessive
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MKKS
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<span class="mim-font">
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604896
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that the McKusick-Kaufman syndrome (MKKS) is caused by homozygous or compound heterozygous mutation in the MKKS gene (604896) on chromosome 20p12.</p><p>Mutation in the MKKS gene also causes Bardet-Biedl syndrome-6 (BBS6; 605231).</p>
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<strong>Description</strong>
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<p>McKusick-Kaufman syndrome (MKKS) is an autosomal recessive disorder characterized by genitourinary malformations, especially hydrometrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations (summary by Schaefer et al., 2011). </p>
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<strong>Clinical Features</strong>
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<p>Hydrometrocolpos develops in the female fetus as a result of transverse vaginal membrane and excessive cervical secretions in response to maternal hormone. McKusick et al. (1964) presented evidence that at least one form is inherited as an autosomal recessive. Birth of another affected female in a third sibship closely related to 1 of the 2 reported in 1964 further strengthened the conclusion (McKusick et al., 1968). The observation of 3 more affected sibships among the Amish and further studies of the earlier 3 sibships corroborated the validity of this syndrome (McKusick, 1978). </p><p>Kaufman et al. (1972) suggested that postaxial polydactyly and/or congenital heart disease may sometimes accompany hydrometrocolpos. In the kindred of McKusick et al. (1964), one of the girls with hydrometrocolpos had postaxial polydactyly and another girl in the same sibship had polydactyly and congenital heart disease without hydrometrocolpos. Others have reported hydrometrocolpos and polydactyly in isolated cases (e.g., Pare and Elhilali, 1972). </p><p>Dungy et al. (1971) found hydrometrocolpos secondary to vaginal atresia and bilateral postaxial hexadactyly in an offspring of first-cousin parents. A comparable disorder, imperforate vagina, is autosomal recessive in the mouse (Gowen and Heidenthal, 1942; Chase, 1944). If the membrane which closes the vagina is removed surgically, the mouse is fully viable and fertile. If untreated, the malformation leads to death about the time of puberty. </p><p>Goecke et al. (1981) made the important observation that glanular hypospadias and prominent scrotal raphe are manifestations in the male. Postaxial polydactyly is an expression of the syndrome in males. The polydactyly may be limited to one limb. </p><p>Vince and Martin (1989) described 3 affected sibs (2 females and 1 male) in a presumably nonconsanguineous Melanesian family. All 3 had anomalies of the urogenital and cardiovascular systems as well as polydactyly. The brother showed micropenis, glanular hypospadias, and bilaterally undescended testes. </p><p>In Beirut, Suidan and Azoury (1979) observed 12 cases of transverse vaginal septum. They suggested that a high frequency might be related to a high frequency of consanguinity in the population they served. All their patients presented in adulthood; the 2 youngest were 16. Only 1 had a complete vaginal septum. McKusick (1980) noted that incomplete vaginal septum as a forme fruste had not been observed in the Amish families. </p><p>Knowles et al. (1981) observed choanal atresia, pituitary dysplasia, and vertebral anomalies in a patient with this syndrome. </p><p>Rosen and Bocian (1989) presented evidence that in this disorder nonimmune hydrops fetalis can be a cause of the edema that is mistakenly attributed to inferior vena cava compression and lymphatic obstruction by a large pelvic mass.</p><p>Davenport et al. (1989) described a male infant with polydactyly, consisting of partial duplication of the third metacarpal and a postaxial accessory digit on both hands and postaxial accessory digits on the feet, as well as penoscrotal hypospadias with chordee. There was no evidence of congenital heart disease. Hirschsprung disease (142623) was established by rectal biopsy. A previous pregnancy had resulted in the intrauterine death of a female fetus with typical features of the Kaufman-McKusick syndrome. </p><p>Schaap et al. (1992) described a patient. Pul et al. (1994) described a female infant, the offspring of a first-cousin marriage, who, in addition to the other features of the Kaufman-McKusick syndrome, had esophageal atresia and distal tracheoesophageal fistula. </p><p>Slavotinek et al. (2004) reported a 19-year-old, non-Amish Caucasian female patient with a triad of anomalies: primary amenorrhea caused by complete lack of mullerian fusion with vaginal agenesis or mullerian aplasia, postaxial polydactyly, and tetralogy of Fallot. The genital tract anomaly of mullerian aplasia with or without renal or skeletal anomalies comprises Mayer-Rokitansky-Kuster-Hauser syndrome (277000), which had never been reported with tetralogy of Fallot. The phenotypic triad of anomalies was thought to resemble most closely McKusick-Kaufman syndrome. The dual midline fusion defects of tetralogy of Fallot and mullerian aplasia suggested that either this patient had a unique syndrome with a distinct genetic etiology or that she had a genetically heterogeneous or variant form of McKusick-Kaufman syndrome. No mutation was found in the MKKS/BBS6 gene on 20p12, nor in other genes associated with Bardet-Biedl syndrome, BBS1 (209901), BBS2 (606151), BBS4 (600374), and BBS7 (607590). Fluorescence in situ hybridization excluded large deletions of 20p12, and microsatellite marker studies confirmed biparental inheritance for all known BBS loci. </p>
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<strong>Mapping</strong>
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<p>Studying Amish individuals with what they called the hydrometrocolpos syndrome (HMCS) originally reported by McKusick et al. (1964), Stone et al. (1997, 1998) used homozygosity mapping to locate the gene for this disorder to 20p12, bounded by markers D20S894 and D20S175. The linkage data showed that 3 individuals (2 females and 1 male) were homozygous for the disease-carrying haplotype but had no apparent manifestations of the disorder. One was the mother of an affected sibship and the other 2 were sibs of affected persons. It is possible that the homozygous, apparently unaffected, sibs had a minor cardiac defect or, in the case of the female, an undiagnosed uterine anomaly. The mapping region included the jagged-1 gene (JAG1; 601920), which is mutant in Alagille syndrome-1 (118450). Stone et al. (1998) sequenced the JAG1 gene in 2 unrelated individuals with McKusick-Kaufman syndrome and found no disease-causing mutations. Stone et al. (1998) stated that the peak 2-point lod score was 3.33, and the peak 3-point lod score was 5.21. </p>
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<strong>Diagnosis</strong>
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<p><strong><em>Differential Diagnosis</em></strong></p><p>
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David et al. (1999) reported 9 patients who, because of the presence of vaginal atresia and postaxial polydactyly, were diagnosed in infancy with McKusick-Kaufman syndrome; these patients later developed obesity and retinal dystrophy and were diagnosed with Bardet-Biedl syndrome. David et al. (1999) suggested that the phenotypic overlap between McKusick-Kaufman syndrome and Bardet-Biedl syndrome is a diagnostic pitfall, and that all children in whom a diagnosis of McKusick-Kaufman syndrome is made in infancy should be reevaluated for retinitis pigmentosa and other signs of Bardet-Biedl in later childhood. </p><p>Hydrometrocolpos and postaxial polydactyly are common to both McKusick-Kaufman syndrome and Bardet-Biedl syndrome. Slavotinek and Biesecker (2000) reviewed reported cases of both syndromes presenting with hydrometrocolpos and postaxial polydactyly early in life, to determine if there are clinical features that allow discrimination between the 2 syndromes, as the primary features of retinitis pigmentosa, obesity, and learning disability in Bardet-Biedl syndrome are age-dependent. They did not find any phenotypic features that allowed reliable differentiation between the 2 syndromes in the neonatal period. However, uterine, ovarian, and fallopian tube anomalies were more common in BBS patients. Slavotinek and Biesecker (2000) concluded that sporadic cases of hydrometrocolpos and postaxial polydactyly in female patients cannot be diagnosed with MKKS until at least age 5 years and that monitoring for the complications of BBS should be performed in these patients. </p><p>Schaefer et al. (2011) suggested that MKKS may be an extremely rare presentation of BBS (absence of retinal degeneration, obesity, and cognitive impairment) linked to rare specific allelic variants of the MKKS gene (possibly hypomorphic alleles) or a condition implying one or more other genes (as modifiers or major genes). </p><p>Unsinn et al. (1995) described a patient who had hydrocolpos and postaxial polydactyly as well as hypothalamic hamartoblastoma, raising the possibility that the Pallister-Hall syndrome (PHS; 146510) and the McKusick-Kaufman syndrome are one entity. The Pallister-Hall syndrome is characterized by specific facial anomalies, postaxial polydactyly, imperforate anus, and brain anomalies, including a diencephalic hamartoblastoma. McKusick (1995) stated that in his judgment these were not the same entity. Lurie (1995) also questioned that the Kaufman-McKusick syndrome and the Pallister-Hall syndrome can be considered one entity. Lurie and Wulfsberg (1994) found in a survey of 43 reported familial cases neither preaxial nor central forms of polydactyly. Lurie (1995) stated that he also did not remember vaginourethral fistula as occurring in these patients. </p><p><strong><em>Prenatal Diagnosis</em></strong></p><p>
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Farrell et al. (1986) described prenatal diagnosis of MKKS by ultrasonography and recurrence of abdominal distention due to peritoneal cysts. They suggested that retrograde flow of secretions from the uterus may be a factor in the abdominal distention of hydrometrocolpos. </p>
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<strong>Inheritance</strong>
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<p>The transmission pattern of MKKS in the patients reported by Stone et al. (2000) was consistent with autosomal recessive inheritance. </p>
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<strong>Molecular Genetics</strong>
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<p>Stone et al. (2000) analyzed the approximately 450-kb candidate region on chromosome 20p12 by sample sequencing, which revealed the presence of several known genes and EST clusters. Candidate transcripts were evaluated by Northern blot analysis of adult and fetal tissues. One transcript with widespread expression was selected for analysis in a patient from the Amish pedigree and a sporadic non-Amish case. The Old Order Amish patient was found to be homozygous for 2 missense substitutions in cis (604896.0001) and the non-Amish patient was a compound heterozygote for a frameshift mutation predicting premature protein truncation (604896.0004) and a distinct missense mutation (604896.0003). The MKKS predicted protein showed amino acid similarity to the chaperonin family of proteins, suggesting a role for protein processing in limb, cardiac, and reproductive system development. </p>
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<p>Fath et al. (2005) developed an Mkks -/- mouse model in which affected animals demonstrated retinal degeneration, failure of spermatozoa flagella formation, elevated blood pressure, olfactory deficits, and social dominance, but no polydactyly nor vaginal abnormalities. The phenotype of the Mkks -/- mice closely resembled the phenotype of other mouse models of Bardet-Biedl syndrome (Bbs2 -/- and Bbs4 -/-). Fath et al. (2005) suggested that the complete absence of the MKKS gene leads to BBS while the MKKS phenotype is likely to be due to specific mutations. </p>
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<strong>See Also:</strong>
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<span class="mim-text-font">
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Hall (1981); Haspeslagh et al. (1981); Jabs et al. (1982); MacLachlan
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et al. (1980); Pinsky (1983); Robinow and Shaw (1979)
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<strong>REFERENCES</strong>
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</h4>
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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 class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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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 A. Bocchini - updated : 6/24/2014<br>George E. Tiller - updated : 5/19/2008<br>Victor A. McKusick - updated : 1/11/2005<br>Victor A. McKusick - updated : 11/10/2000<br>Ada Hamosh - updated : 4/28/2000<br>Michael J. Wright - updated : 10/27/1999<br>Victor A. McKusick - updated : 4/24/1998<br>Victor A. McKusick - updated : 10/22/1997
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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 class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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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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<span class="mim-text-font">
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Victor A. McKusick : 6/3/1986
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carol : 08/12/2023<br>carol : 11/04/2022<br>alopez : 06/13/2017<br>carol : 12/11/2014<br>carol : 6/24/2014<br>carol : 6/24/2014<br>carol : 6/24/2014<br>carol : 6/19/2014<br>terry : 6/3/2009<br>alopez : 12/29/2008<br>wwang : 5/20/2008<br>terry : 5/19/2008<br>carol : 8/16/2006<br>carol : 10/5/2005<br>alopez : 1/19/2005<br>wwang : 1/18/2005<br>wwang : 1/14/2005<br>wwang : 1/12/2005<br>terry : 1/11/2005<br>carol : 11/18/2004<br>carol : 8/19/2004<br>cwells : 5/29/2002<br>terry : 5/10/2002<br>alopez : 10/5/2001<br>terry : 6/5/2001<br>mcapotos : 11/16/2000<br>mcapotos : 11/15/2000<br>terry : 11/10/2000<br>alopez : 4/29/2000<br>terry : 4/28/2000<br>alopez : 10/27/1999<br>alopez : 9/8/1998<br>carol : 4/24/1998<br>terry : 4/14/1998<br>terry : 4/9/1998<br>terry : 10/28/1997<br>alopez : 10/28/1997<br>terry : 10/22/1997<br>mark : 10/2/1995<br>terry : 8/1/1995<br>davew : 6/2/1994<br>carol : 6/1/1994<br>pfoster : 3/24/1994<br>warfield : 3/8/1994
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