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Entry
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- #103285 - ADULT SYNDROME
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- OMIM
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<p>
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<span class="h4">#103285</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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<li role="presentation">
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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</li>
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<li role="presentation">
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<a href="/clinicalSynopsis/103285"><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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<li role="presentation" style="margin-left: 1em">
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#mapping">Mapping</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div 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 id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=ADULT 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=1297&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/NBK43797/" 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/252" 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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=103285[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=978" 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/ec65464b-0eb2-4843-a020-7de6462e9010/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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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/disease/DOID:0050601" 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/103285" 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>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</div>
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 720464003<br />
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<strong>ORPHA:</strong> 978<br />
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<strong>DO:</strong> 0050601<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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103285
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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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ADULT SYNDROME
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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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ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
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</span>
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
|
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<a href="/geneMap/3/957?start=-3&limit=10&highlight=957">
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3q28
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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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ADULT 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/103285"> 103285 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<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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</td>
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<td>
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<span class="mim-font">
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TP63
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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/603273"> 603273 </a>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/103285" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/103285" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/103285" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
|
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
|
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<strong> INHERITANCE </strong>
|
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</span>
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</div>
|
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Lacrimal duct obstruction <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/416920000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">416920000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0022906&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0022906</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000579" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000579</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000579" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000579</a>]</span><br /> -
|
|
Conjunctivitis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/9826008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">9826008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H10</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H10.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H10.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/372.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">372.30</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0009763&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0009763</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000509" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000509</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000509" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000509</a>]</span><br />
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|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
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|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Teeth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hypodontia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/64969001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">64969001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K00.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K00.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020608&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020608</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000668" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000668</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000668" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000668</a>]</span><br /> -
|
|
Oligodontia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/787414001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">787414001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/64969001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">64969001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K00.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K00.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4082304&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4082304</a>, <a href="https://bioportal.bioontology.org/search?q=C0020608&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020608</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000668" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000668</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000677" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000677</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000677" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000677</a>]</span><br /> -
|
|
Small teeth <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/32337007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">32337007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K00.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K00.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240340&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240340</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000691" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000691</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000691" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000691</a>]</span><br /> -
|
|
Dysplastic teeth <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0281832&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0281832</a>]</span><br /> -
|
|
Premature loss of secondary teeth (<25 years) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1863205&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1863205</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006357" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006357</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
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|
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|
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|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> CHEST </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Breasts </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Breast hypoplasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8915006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8915006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N64.82" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N64.82</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/611.82" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">611.82</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266013&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266013</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003187" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003187</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003187" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003187</a>]</span><br /> -
|
|
Mammary gland hypoplasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8915006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8915006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N64.82" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N64.82</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/611.82" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">611.82</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266013&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266013</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003187" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003187</a>]</span><br /> -
|
|
Widely spaced nipples <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/423230008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">423230008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1827524&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1827524</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006610" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006610</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006610" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006610</a>]</span><br /> -
|
|
Absent nipples <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/75474006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">75474006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248820000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248820000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q83.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q83.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0175755&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0175755</a>, <a href="https://bioportal.bioontology.org/search?q=C0425795&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0425795</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002561" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002561</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002561" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002561</a>]</span><br /> -
|
|
Hypoplastic nipples <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/268290005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">268290005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0432355&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0432355</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002557" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002557</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002557" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002557</a>]</span><br />
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|
|
</span>
|
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</div>
|
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</div>
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</div>
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</div>
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<div>
|
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Hands </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Ectrodactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13624003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13624003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/81208006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">81208006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q71.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q71.6</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q71.60" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q71.60</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/755.58" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">755.58</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2931019&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2931019</a>, <a href="https://bioportal.bioontology.org/search?q=C0265554&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265554</a>, <a href="https://bioportal.bioontology.org/search?q=C2699510&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2699510</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001171" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001171</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0100257" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100257</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100257" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100257</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=55c8d7d8f005af0ba3e1fd0632b2418a" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Foot,Split-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=55c8d7d8f005af0ba3e1fd0632b2418a" 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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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>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<em> Feet </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Ectrodactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/13624003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">13624003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/81208006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">81208006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q71.6" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q71.6</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q71.60" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q71.60</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/755.58" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">755.58</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2931019&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2931019</a>, <a href="https://bioportal.bioontology.org/search?q=C0265554&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265554</a>, <a href="https://bioportal.bioontology.org/search?q=C2699510&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2699510</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001171" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001171</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0100257" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100257</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0100257" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0100257</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=55c8d7d8f005af0ba3e1fd0632b2418a" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Foot,Split-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=55c8d7d8f005af0ba3e1fd0632b2418a" 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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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>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> SKIN, NAILS, & HAIR </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
|
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<em> Skin </em>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Ectodermal dysplasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/254154003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">254154003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/8654005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">8654005</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/757.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">757.31</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0013575&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0013575</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000968" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000968</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000968" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000968</a>]</span><br /> -
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Atrophic skin <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/400190005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">400190005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L90</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/L90.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L90.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0151514&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151514</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004334" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004334</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004334" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004334</a>]</span><br /> -
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Thin skin <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/277797007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">277797007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423757&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423757</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000963" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000963</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000963" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000963</a>]</span><br /> -
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Dry skin <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/52475004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">52475004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E50.8" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E50.8</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0043345&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0043345</a>, <a href="https://bioportal.bioontology.org/search?q=C0720057&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0720057</a>, <a href="https://bioportal.bioontology.org/search?q=C0151908&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0151908</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000958" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000958</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000958" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000958</a>]</span><br /> -
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Freckling <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/699225003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">699225003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/403536009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">403536009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L81.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L81.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0016689&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0016689</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001480" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001480</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001480" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001480</a>]</span><br /> -
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Photosensitive skin <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/90128006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">90128006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0349506&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0349506</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000992" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000992</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000992" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000992</a>]</span><br /> -
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Dermatitis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/703938007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">703938007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/L30.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">L30.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0011603&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0011603</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011123" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011123</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0011123" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0011123</a>]</span><br /> -
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Adermatoglyphia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1852150&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1852150</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007455" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007455</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007455" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007455</a>]</span><br />
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<div>
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<div>
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<span class="h5 mim-font">
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<em> Nails </em>
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<div style="margin-left: 2em;">
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<span class="mim-font">
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- Dysplastic nails <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1834405&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1834405</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002164" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002164</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002164" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002164</a>]</span><br /> -
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Nail pits <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/89704006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">89704006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0150993&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0150993</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001803" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001803</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001803" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001803</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=d06533b19c983e1cc8b530be7ffac85b" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Rgdbdg2ACGg86U8tkVtMTGc8mgdEFTdC-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=d06533b19c983e1cc8b530be7ffac85b" 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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<div>
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<span class="h5 mim-font">
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<em> Hair </em>
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- Blond hair <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/297995004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">297995004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849221&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849221</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002286" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002286</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002286" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002286</a>]</span><br /> -
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Thin scalp hair <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857042&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857042</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002209" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002209</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002209" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002209</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=0794250547c51da4a5a0f6e06193a00b" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Scalp_Hair,Sparse-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=0794250547c51da4a5a0f6e06193a00b" 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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Sparse axillary hair <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1858574&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858574</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002215" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002215</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002215" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002215</a>]</span><br /> -
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Premature scalp hair loss (>30 years) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1863208&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1863208</a>]</span><br />
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</span>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MISCELLANEOUS </strong>
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</span>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- ADULT is an acronym for Acro-Dermato-Ungual-Lacrimal-Tooth<br /> -
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Allelic disorder to ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3, <a href="/entry/604292">604292</a>)<br /> -
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Allelic disorder to limb-mammary syndrome (LMS, <a href="/entry/603543">603543</a>)<br /> -
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Allelic disorder to ankyloblepharon-ectodermal defects, cleft lip/palate syndrome (AEC, <a href="/entry/106260">106260</a>)<br /> -
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Allelic disorder to Rapp-Hodgkin syndrome (RHS, <a href="/entry/129400">129400</a>)<br /> -
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Allelic disorder to split-hand/foot malformation 4 (SHFM4, <a href="/entry/605289">605289</a>)<br />
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</span>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> MOLECULAR BASIS </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by mutation in the tumor protein p73-like gene (TP73L, <a href="/entry/603273#0011">603273.0011</a>)<br />
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</span>
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<div class="text-right">
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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<div>
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<br />
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that ADULT syndrome is caused by heterozygous mutation in the TP63 gene (<a href="/entry/603273">603273</a>) on chromosome 3q28.</p><p>Allelic disorders with overlapping features include EEC3 (<a href="/entry/604292">604292</a>), limb-mammary syndrome (LMS; <a href="/entry/603543">603543</a>), AEC syndrome (<a href="/entry/106260">106260</a>), Rapp-Hodgkin syndrome (RHS; <a href="/entry/129400">129400</a>), and SHFM4 (<a href="/entry/605289">605289</a>)</p>
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<br />
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<strong>Description</strong>
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<p>ADULT (acro-dermato-ungual-lacrimal-tooth) syndrome is characterized by ectrodactyly, syndactyly, fingernail and toenail dysplasia, hypoplasia of the breast and nipple, excessive freckling, lacrimal duct atresia, frontal alopecia, primary hypodontia, and/or early loss of permanent teeth (summary by <a href="#6" class="mim-tip-reference" title="Reisler, T. T., Patton, M. A., Meagher, P. P. J. <strong>Further phenotypic and genetic variation in ADULT syndrome.</strong> Am. J. Med. Genet. 140A: 2495-2500, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17041931/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17041931</a>] [<a href="https://doi.org/10.1002/ajmg.a.31482" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17041931">Reisler et al., 2006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17041931" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<br />
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<strong>Clinical Features</strong>
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<p><a href="#5" class="mim-tip-reference" title="Propping, P., Zerres, K. <strong>ADULT-syndrome: an autosomal-dominant disorder with pigment anomalies, ectrodactyly, nail dysplasia, and hypodontia.</strong> Am. J. Med. Genet. 45: 642-648, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8456838/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8456838</a>] [<a href="https://doi.org/10.1002/ajmg.1320450525" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8456838">Propping and Zerres (1993)</a> described a family with at least 7 living members who were affected by a hitherto undescribed syndrome with variable expression, which bore a close resemblance to the EEC syndrome. Features included ectrodactyly, syndactyly, finger- and toenail dysplasia, hypoplastic breasts and nipples, intensive freckling, lacrimal duct atresia, frontal alopecia, primary hypodontia, and loss of permanent teeth. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8456838" 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="#8" class="mim-tip-reference" title="Slavotinek, A. M., Tanaka, J., Winder, A., Vargervik, K., Haggstrom, A., Bamshad, M. <strong>Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome: report of a child with phenotypic overlap with ulnar-mammary syndrome and a new mutation in TP63.</strong> Am. J. Med. Genet. 138A: 146-149, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16114047/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16114047</a>] [<a href="https://doi.org/10.1002/ajmg.a.30900" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16114047">Slavotinek et al. (2005)</a> reported a patient with ADULT syndrome with phenotypic overlap with ulnar-mammary syndrome (UMS; <a href="/entry/181450">181450</a>). At age 15 years, the patient had sparse, fine, white blond hair, incomplete fusion of the right inner canthus, high and broad nasal bridge, midface hypoplasia, and hypodontia with small and peg-shaped incisors. Other features included fair skin with extensive freckling over sun-exposed areas, onychodystrophy, and absent nipples. The patient also had brachydactyly with bilateral fifth finger clinodactyly and camptodactyly and ulnar ray hypoplasia, suggesting UMS. Clinical history included surgical repair of an imperforate anus and nasolacrimal duct stenosis, and reduced axillary sweating. Genetic analysis identified a mutation in the TP63 gene (<a href="/entry/603273#0020">603273.0020</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16114047" 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="Rinne, T., Spadoni, E., Kjaer, K. W., Danesino, C., Larizza, D., Kock, M., Huoponen, K., Savontaus, M.-L., Aaltonen, M., Duijf, P., Brunner, H. G., Penttinen, M., van Bokhoven, H. <strong>Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene.</strong> Europ. J. Hum. Genet. 14: 904-910, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16724007/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16724007</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201640" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16724007">Rinne et al. (2006)</a> reported 3 unrelated families with ADULT syndrome of Finnish, Italian, and Danish origin, respectively. Clinical features included ectrodactyly and syndactyly, atrophic skin, dry skin, photosensitive skin, dermatitis, lacrimal duct obstruction, thin, sparse, blond hair, dysplastic nails, and hypoplastic breasts and/or nipples. Freckling was a variable feature. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16724007" 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="#2" class="mim-tip-reference" title="de Almeida, H. L., Jr., Caspary, P., Duquia, R. P., Meijer, R., van Steensel, M. <strong>Adermatoglyphia, previously unrecognized manifestation in ADULT syndrome.</strong> Am. J. Med. Genet. 152A: 2656-2657, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20814947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20814947</a>] [<a href="https://doi.org/10.1002/ajmg.a.33625" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20814947">De Almeida et al. (2010)</a> examined an 11-year-old boy who presented with nail dystrophy, athelia, freckling of sun-exposed areas, and dystrophic teeth. Ophthalmologic examination revealed obstruction of the lacrimal ducts; light microscopy of a skin biopsy showed normal eccrine sweat glands. His mother had similar changes, as well as hypoplastic mammillae. A mutation in the p63 gene was identified in the boy and his mother (R298Q; <a href="/entry/603273#0014">603273.0014</a>); in addition, his 2 older sisters and a nephew were affected. The sisters mentioned that they had problems with fingerprinting for identification documentation, and close examination revealed adermatoglyphia of all affected individuals, which was not found in unaffected relatives. <a href="#2" class="mim-tip-reference" title="de Almeida, H. L., Jr., Caspary, P., Duquia, R. P., Meijer, R., van Steensel, M. <strong>Adermatoglyphia, previously unrecognized manifestation in ADULT syndrome.</strong> Am. J. Med. Genet. 152A: 2656-2657, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20814947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20814947</a>] [<a href="https://doi.org/10.1002/ajmg.a.33625" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20814947">De Almeida et al. (2010)</a> noted that adermatoglyphia had been described in other forms of ectodermal dysplasia, and suggested that it may have been overlooked in previously reported cases of ADULT syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20814947" 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>Because of the phenotypic similarity between the family reported by <a href="#5" class="mim-tip-reference" title="Propping, P., Zerres, K. <strong>ADULT-syndrome: an autosomal-dominant disorder with pigment anomalies, ectrodactyly, nail dysplasia, and hypodontia.</strong> Am. J. Med. Genet. 45: 642-648, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8456838/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8456838</a>] [<a href="https://doi.org/10.1002/ajmg.1320450525" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8456838">Propping and Zerres (1993)</a> and a family with limb-mammary syndrome (LMS; <a href="/entry/603543">603543</a>), which had been mapped to chromosome 3q27, <a href="#4" class="mim-tip-reference" title="Propping, P., Friedl, W., Wienker, T. F., Uhlhaas, S., Zerres, K. <strong>ADULT syndrome allelic to limb mammary syndrome (LMS).</strong> Am. J. Med. Genet. 90: 179-182, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10607963/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10607963</a>]" pmid="10607963">Propping et al. (2000)</a> genotyped 21 members of the ADULT family with 19 polymorphic markers from this chromosome region. Their studies placed the ADULT locus in the same chromosome region as the LMS locus, suggesting that these 2 conditions are allelic. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8456838+10607963" 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="#1" class="mim-tip-reference" title="Amiel, J., Bougeard, G., Francannet, C., Raclin, V., Munnich, A., Lyonnet, S., Frebourg, T. <strong>TP63 gene mutation in ADULT syndrome.</strong> Europ. J. Hum. Genet. 9: 642-645, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11528512/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11528512</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200676" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11528512">Amiel et al. (2001)</a> and <a href="#3" class="mim-tip-reference" title="Duijf, P. H. G., Vanmolkot, K. R. J., Propping, P., Friedl, W., Krieger, E., McKeon, F., Dotsch, V., Brunner, H. G., van Bokhoven, H. <strong>Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63.</strong> Hum. Molec. Genet. 11: 799-804, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11929852/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11929852</a>] [<a href="https://doi.org/10.1093/hmg/11.7.799" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11929852">Duijf et al. (2002)</a> reported families with autosomal dominant inheritance of ADULT syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11528512+11929852" 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="#1" class="mim-tip-reference" title="Amiel, J., Bougeard, G., Francannet, C., Raclin, V., Munnich, A., Lyonnet, S., Frebourg, T. <strong>TP63 gene mutation in ADULT syndrome.</strong> Europ. J. Hum. Genet. 9: 642-645, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11528512/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11528512</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200676" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11528512">Amiel et al. (2001)</a> reported a missense mutation in the TP63 gene (N6H; <a href="/entry/603273#0011">603273.0011</a>), located at chromosome 3q27, in an isolated ADULT syndrome case. The mutation was inherited from the healthy father, in whom freckling of the back and shoulders was the only feature of ADULT syndrome. <a href="#1" class="mim-tip-reference" title="Amiel, J., Bougeard, G., Francannet, C., Raclin, V., Munnich, A., Lyonnet, S., Frebourg, T. <strong>TP63 gene mutation in ADULT syndrome.</strong> Europ. J. Hum. Genet. 9: 642-645, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11528512/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11528512</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200676" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11528512">Amiel et al. (2001)</a> considered incomplete penetrance as the most likely explanation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11528512" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of a 2-generation family with ADULT syndrome, <a href="#3" class="mim-tip-reference" title="Duijf, P. H. G., Vanmolkot, K. R. J., Propping, P., Friedl, W., Krieger, E., McKeon, F., Dotsch, V., Brunner, H. G., van Bokhoven, H. <strong>Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63.</strong> Hum. Molec. Genet. 11: 799-804, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11929852/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11929852</a>] [<a href="https://doi.org/10.1093/hmg/11.7.799" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11929852">Duijf et al. (2002)</a> identified a heterozygous mutation in the TP63 gene (R298Q; <a href="/entry/603273#0014">603273.0014</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11929852" 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="Rinne, T., Spadoni, E., Kjaer, K. W., Danesino, C., Larizza, D., Kock, M., Huoponen, K., Savontaus, M.-L., Aaltonen, M., Duijf, P., Brunner, H. G., Penttinen, M., van Bokhoven, H. <strong>Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene.</strong> Europ. J. Hum. Genet. 14: 904-910, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16724007/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16724007</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201640" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16724007">Rinne et al. (2006)</a> identified the R298Q mutation in affected members of 2 unrelated families with ADULT syndrome; 1 was Italian, and the other was Dutch. A third family of Finnish origin had a different mutation at the same codon (R298G; <a href="/entry/603273#0022">603273.0022</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16724007" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a mother and daughter with ADULT syndrome, <a href="#6" class="mim-tip-reference" title="Reisler, T. T., Patton, M. A., Meagher, P. P. J. <strong>Further phenotypic and genetic variation in ADULT syndrome.</strong> Am. J. Med. Genet. 140A: 2495-2500, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17041931/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17041931</a>] [<a href="https://doi.org/10.1002/ajmg.a.31482" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17041931">Reisler et al. (2006)</a> identified an R227Q mutation in the TP63 gene (<a href="/entry/603273#0024">603273.0024</a>). The R227Q mutation had previously been found in 3 families with EEC3 (see <a href="/entry/604292">604292</a> and <a href="#10" class="mim-tip-reference" title="van Bokhoven, H., Hamel, B. C., Bamshad, M., Sangiorgi, E., Gurrieri, F., Duijf, P. H. G., Vanmolkot, K. R. J., van Beusekom, E., van Beersum, S. E. C., Celli, J., Merkx, G. F. M., Tenconi, R., and 13 others. <strong>p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-foot malformation suggest a genotype-phenotype correlation.</strong> Am. J. Hum. Genet. 69: 481-492, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11462173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11462173</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11462173[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/323123" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11462173">van Bokhoven et al., 2001</a>); <a href="#6" class="mim-tip-reference" title="Reisler, T. T., Patton, M. A., Meagher, P. P. J. <strong>Further phenotypic and genetic variation in ADULT syndrome.</strong> Am. J. Med. Genet. 140A: 2495-2500, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17041931/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17041931</a>] [<a href="https://doi.org/10.1002/ajmg.a.31482" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17041931">Reisler et al. (2006)</a> suggested that there may be considerable overlap between the EEC and ADULT syndromes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17041931+11462173" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a Dutch mother and daughter with minimal manifestations of ADULT syndrome, including hypothelia and palmar hyperlinearity, <a href="#11" class="mim-tip-reference" title="van Zelst-Stams, W. A. G., van Steensel, M. A. M. <strong>A novel TP63 mutation in a family with ADULT syndrome presenting with eczema and hypothelia. (Letter)</strong> Am. J. Med. Genet. 149A: 1558-1560, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19530185/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19530185</a>] [<a href="https://doi.org/10.1002/ajmg.a.32881" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19530185">van Zelst-Stams and van Steensel (2009)</a> identified heterozygosity for a missense mutation in the C-terminal end of the proline-rich domain of TP63 (P127L; <a href="/entry/603273#0026">603273.0026</a>). The authors noted that mutations in this domain have primarily been reported to cause limb-mammary syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19530185" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 17-year-old boy with ectodermal dysplasia and arrhythmogenic right ventricular dysplasia, who did not have the skin and limb manifestations of ADULT syndrome, <a href="#9" class="mim-tip-reference" title="Valenzise, M., Arrigo, T., De Luca, F., Privitera, A., Frigiola, A., Carando, A., Garelli, E., Silengo, M. <strong>R298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathy. (Letter)</strong> Europ. J. Med. Genet. 51: 497-500, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18603493/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18603493</a>] [<a href="https://doi.org/10.1016/j.ejmg.2008.05.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18603493">Valenzise et al. (2008)</a> identified the R298Q mutation in the TP63 gene. The mutation was also found in his mother, who had only hypodontia and athelia. <a href="#9" class="mim-tip-reference" title="Valenzise, M., Arrigo, T., De Luca, F., Privitera, A., Frigiola, A., Carando, A., Garelli, E., Silengo, M. <strong>R298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathy. (Letter)</strong> Europ. J. Med. Genet. 51: 497-500, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18603493/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18603493</a>] [<a href="https://doi.org/10.1016/j.ejmg.2008.05.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18603493">Valenzise et al. (2008)</a> noted that their findings highlighted the clinical overlapping of TP63-related ectodermal dysplasias and the difficulty of establishing unequivocal genotype-phenotype correlations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18603493" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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[<a href="https://doi.org/10.1038/sj.ejhg.5200676" target="_blank">Full Text</a>]
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<a id="2" class="mim-anchor"></a>
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<a id="de Almeida2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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de Almeida, H. L., Jr., Caspary, P., Duquia, R. P., Meijer, R., van Steensel, M.
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<strong>Adermatoglyphia, previously unrecognized manifestation in ADULT syndrome.</strong>
|
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Am. J. Med. Genet. 152A: 2656-2657, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20814947/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20814947</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20814947" 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.33625" target="_blank">Full Text</a>]
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<li>
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<a id="3" class="mim-anchor"></a>
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<a id="Duijf2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Duijf, P. H. G., Vanmolkot, K. R. J., Propping, P., Friedl, W., Krieger, E., McKeon, F., Dotsch, V., Brunner, H. G., van Bokhoven, H.
|
|
<strong>Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63.</strong>
|
|
Hum. Molec. Genet. 11: 799-804, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11929852/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11929852</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11929852" 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/11.7.799" target="_blank">Full Text</a>]
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</p>
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<a id="4" class="mim-anchor"></a>
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<a id="Propping2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Propping, P., Friedl, W., Wienker, T. F., Uhlhaas, S., Zerres, K.
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<strong>ADULT syndrome allelic to limb mammary syndrome (LMS).</strong>
|
|
Am. J. Med. Genet. 90: 179-182, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10607963/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10607963</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10607963" 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="5" class="mim-anchor"></a>
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<a id="Propping1993" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Propping, P., Zerres, K.
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<strong>ADULT-syndrome: an autosomal-dominant disorder with pigment anomalies, ectrodactyly, nail dysplasia, and hypodontia.</strong>
|
|
Am. J. Med. Genet. 45: 642-648, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8456838/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8456838</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8456838" 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.1320450525" target="_blank">Full Text</a>]
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<a id="Reisler2006" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Reisler, T. T., Patton, M. A., Meagher, P. P. J.
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<strong>Further phenotypic and genetic variation in ADULT syndrome.</strong>
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Am. J. Med. Genet. 140A: 2495-2500, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17041931/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17041931</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17041931" 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.31482" target="_blank">Full Text</a>]
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<a id="7" class="mim-anchor"></a>
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<a id="Rinne2006" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Rinne, T., Spadoni, E., Kjaer, K. W., Danesino, C., Larizza, D., Kock, M., Huoponen, K., Savontaus, M.-L., Aaltonen, M., Duijf, P., Brunner, H. G., Penttinen, M., van Bokhoven, H.
|
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<strong>Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene.</strong>
|
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Europ. J. Hum. Genet. 14: 904-910, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16724007/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16724007</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16724007" 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/sj.ejhg.5201640" target="_blank">Full Text</a>]
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Slavotinek2005" class="mim-anchor"></a>
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<div class="">
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Slavotinek, A. M., Tanaka, J., Winder, A., Vargervik, K., Haggstrom, A., Bamshad, M.
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<strong>Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome: report of a child with phenotypic overlap with ulnar-mammary syndrome and a new mutation in TP63.</strong>
|
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Am. J. Med. Genet. 138A: 146-149, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16114047/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16114047</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16114047" 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.30900" target="_blank">Full Text</a>]
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Valenzise2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Valenzise, M., Arrigo, T., De Luca, F., Privitera, A., Frigiola, A., Carando, A., Garelli, E., Silengo, M.
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<strong>R298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathy. (Letter)</strong>
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Europ. J. Med. Genet. 51: 497-500, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18603493/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18603493</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18603493" 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.2008.05.005" target="_blank">Full Text</a>]
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<a id="10" class="mim-anchor"></a>
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<a id="van Bokhoven2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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van Bokhoven, H., Hamel, B. C., Bamshad, M., Sangiorgi, E., Gurrieri, F., Duijf, P. H. G., Vanmolkot, K. R. J., van Beusekom, E., van Beersum, S. E. C., Celli, J., Merkx, G. F. M., Tenconi, R., and 13 others.
|
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<strong>p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-foot malformation suggest a genotype-phenotype correlation.</strong>
|
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Am. J. Hum. Genet. 69: 481-492, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11462173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11462173</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11462173[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11462173" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/323123" target="_blank">Full Text</a>]
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="van Zelst-Stams2009" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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van Zelst-Stams, W. A. G., van Steensel, M. A. M.
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<strong>A novel TP63 mutation in a family with ADULT syndrome presenting with eczema and hypothelia. (Letter)</strong>
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Am. J. Med. Genet. 149A: 1558-1560, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19530185/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19530185</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19530185" 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.32881" 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 class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 12/16/2010
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 1/22/2010<br>Marla J. F. O'Neill - updated : 12/4/2009<br>Marla J. F. O'Neill - updated : 2/5/2007<br>Cassandra L. Kniffin - updated : 9/21/2006<br>Cassandra L. Kniffin - updated : 10/21/2005<br>Michael B. Petersen - updated : 11/29/2001<br>Sonja A. Rasmussen - updated : 10/11/2000
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 3/24/1993
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carol : 01/22/2020
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<span class="mim-text-font">
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carol : 05/24/2019<br>carol : 11/22/2016<br>wwang : 07/15/2011<br>alopez : 12/17/2010<br>terry : 12/16/2010<br>wwang : 1/28/2010<br>terry : 1/22/2010<br>carol : 12/23/2009<br>terry : 12/4/2009<br>wwang : 5/7/2009<br>wwang : 2/8/2007<br>wwang : 2/5/2007<br>wwang : 9/26/2006<br>ckniffin : 9/21/2006<br>alopez : 4/12/2006<br>wwang : 11/8/2005<br>ckniffin : 10/21/2005<br>cwells : 12/5/2001<br>cwells : 11/29/2001<br>carol : 10/11/2000<br>mcapotos : 10/11/2000<br>mimadm : 3/11/1994<br>carol : 3/24/1993
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<span class="mim-font">
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<strong>#</strong> 103285
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ADULT SYNDROME
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ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME
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<strong>SNOMEDCT:</strong> 720464003;
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<strong>ORPHA:</strong> 978;
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<strong>DO:</strong> 0050601;
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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Location
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Phenotype
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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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Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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3q28
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ADULT syndrome
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103285
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Autosomal dominant
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3
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TP63
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603273
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that ADULT syndrome is caused by heterozygous mutation in the TP63 gene (603273) on chromosome 3q28.</p><p>Allelic disorders with overlapping features include EEC3 (604292), limb-mammary syndrome (LMS; 603543), AEC syndrome (106260), Rapp-Hodgkin syndrome (RHS; 129400), and SHFM4 (605289)</p>
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<strong>Description</strong>
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<p>ADULT (acro-dermato-ungual-lacrimal-tooth) syndrome is characterized by ectrodactyly, syndactyly, fingernail and toenail dysplasia, hypoplasia of the breast and nipple, excessive freckling, lacrimal duct atresia, frontal alopecia, primary hypodontia, and/or early loss of permanent teeth (summary by Reisler et al., 2006). </p>
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<strong>Clinical Features</strong>
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<p>Propping and Zerres (1993) described a family with at least 7 living members who were affected by a hitherto undescribed syndrome with variable expression, which bore a close resemblance to the EEC syndrome. Features included ectrodactyly, syndactyly, finger- and toenail dysplasia, hypoplastic breasts and nipples, intensive freckling, lacrimal duct atresia, frontal alopecia, primary hypodontia, and loss of permanent teeth. </p><p>Slavotinek et al. (2005) reported a patient with ADULT syndrome with phenotypic overlap with ulnar-mammary syndrome (UMS; 181450). At age 15 years, the patient had sparse, fine, white blond hair, incomplete fusion of the right inner canthus, high and broad nasal bridge, midface hypoplasia, and hypodontia with small and peg-shaped incisors. Other features included fair skin with extensive freckling over sun-exposed areas, onychodystrophy, and absent nipples. The patient also had brachydactyly with bilateral fifth finger clinodactyly and camptodactyly and ulnar ray hypoplasia, suggesting UMS. Clinical history included surgical repair of an imperforate anus and nasolacrimal duct stenosis, and reduced axillary sweating. Genetic analysis identified a mutation in the TP63 gene (603273.0020). </p><p>Rinne et al. (2006) reported 3 unrelated families with ADULT syndrome of Finnish, Italian, and Danish origin, respectively. Clinical features included ectrodactyly and syndactyly, atrophic skin, dry skin, photosensitive skin, dermatitis, lacrimal duct obstruction, thin, sparse, blond hair, dysplastic nails, and hypoplastic breasts and/or nipples. Freckling was a variable feature. </p><p>De Almeida et al. (2010) examined an 11-year-old boy who presented with nail dystrophy, athelia, freckling of sun-exposed areas, and dystrophic teeth. Ophthalmologic examination revealed obstruction of the lacrimal ducts; light microscopy of a skin biopsy showed normal eccrine sweat glands. His mother had similar changes, as well as hypoplastic mammillae. A mutation in the p63 gene was identified in the boy and his mother (R298Q; 603273.0014); in addition, his 2 older sisters and a nephew were affected. The sisters mentioned that they had problems with fingerprinting for identification documentation, and close examination revealed adermatoglyphia of all affected individuals, which was not found in unaffected relatives. De Almeida et al. (2010) noted that adermatoglyphia had been described in other forms of ectodermal dysplasia, and suggested that it may have been overlooked in previously reported cases of ADULT syndrome. </p>
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<strong>Mapping</strong>
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<p>Because of the phenotypic similarity between the family reported by Propping and Zerres (1993) and a family with limb-mammary syndrome (LMS; 603543), which had been mapped to chromosome 3q27, Propping et al. (2000) genotyped 21 members of the ADULT family with 19 polymorphic markers from this chromosome region. Their studies placed the ADULT locus in the same chromosome region as the LMS locus, suggesting that these 2 conditions are allelic. </p>
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<strong>Inheritance</strong>
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<p>Amiel et al. (2001) and Duijf et al. (2002) reported families with autosomal dominant inheritance of ADULT syndrome. </p>
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<strong>Molecular Genetics</strong>
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<p>Amiel et al. (2001) reported a missense mutation in the TP63 gene (N6H; 603273.0011), located at chromosome 3q27, in an isolated ADULT syndrome case. The mutation was inherited from the healthy father, in whom freckling of the back and shoulders was the only feature of ADULT syndrome. Amiel et al. (2001) considered incomplete penetrance as the most likely explanation. </p><p>In affected members of a 2-generation family with ADULT syndrome, Duijf et al. (2002) identified a heterozygous mutation in the TP63 gene (R298Q; 603273.0014). </p><p>Rinne et al. (2006) identified the R298Q mutation in affected members of 2 unrelated families with ADULT syndrome; 1 was Italian, and the other was Dutch. A third family of Finnish origin had a different mutation at the same codon (R298G; 603273.0022). </p><p>In a mother and daughter with ADULT syndrome, Reisler et al. (2006) identified an R227Q mutation in the TP63 gene (603273.0024). The R227Q mutation had previously been found in 3 families with EEC3 (see 604292 and van Bokhoven et al., 2001); Reisler et al. (2006) suggested that there may be considerable overlap between the EEC and ADULT syndromes. </p><p>In a Dutch mother and daughter with minimal manifestations of ADULT syndrome, including hypothelia and palmar hyperlinearity, van Zelst-Stams and van Steensel (2009) identified heterozygosity for a missense mutation in the C-terminal end of the proline-rich domain of TP63 (P127L; 603273.0026). The authors noted that mutations in this domain have primarily been reported to cause limb-mammary syndrome. </p><p>In a 17-year-old boy with ectodermal dysplasia and arrhythmogenic right ventricular dysplasia, who did not have the skin and limb manifestations of ADULT syndrome, Valenzise et al. (2008) identified the R298Q mutation in the TP63 gene. The mutation was also found in his mother, who had only hypodontia and athelia. Valenzise et al. (2008) noted that their findings highlighted the clinical overlapping of TP63-related ectodermal dysplasias and the difficulty of establishing unequivocal genotype-phenotype correlations. </p>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<ol>
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<p class="mim-text-font">
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Amiel, J., Bougeard, G., Francannet, C., Raclin, V., Munnich, A., Lyonnet, S., Frebourg, T.
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<strong>TP63 gene mutation in ADULT syndrome.</strong>
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Europ. J. Hum. Genet. 9: 642-645, 2001.
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[PubMed: 11528512]
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[Full Text: https://doi.org/10.1038/sj.ejhg.5200676]
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<p class="mim-text-font">
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de Almeida, H. L., Jr., Caspary, P., Duquia, R. P., Meijer, R., van Steensel, M.
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<strong>Adermatoglyphia, previously unrecognized manifestation in ADULT syndrome.</strong>
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Am. J. Med. Genet. 152A: 2656-2657, 2010.
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[PubMed: 20814947]
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[Full Text: https://doi.org/10.1002/ajmg.a.33625]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Duijf, P. H. G., Vanmolkot, K. R. J., Propping, P., Friedl, W., Krieger, E., McKeon, F., Dotsch, V., Brunner, H. G., van Bokhoven, H.
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<strong>Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63.</strong>
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Hum. Molec. Genet. 11: 799-804, 2002.
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[PubMed: 11929852]
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[Full Text: https://doi.org/10.1093/hmg/11.7.799]
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<p class="mim-text-font">
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Propping, P., Friedl, W., Wienker, T. F., Uhlhaas, S., Zerres, K.
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<strong>ADULT syndrome allelic to limb mammary syndrome (LMS).</strong>
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Am. J. Med. Genet. 90: 179-182, 2000.
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[PubMed: 10607963]
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<li>
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<p class="mim-text-font">
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Propping, P., Zerres, K.
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<strong>ADULT-syndrome: an autosomal-dominant disorder with pigment anomalies, ectrodactyly, nail dysplasia, and hypodontia.</strong>
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Am. J. Med. Genet. 45: 642-648, 1993.
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[PubMed: 8456838]
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[Full Text: https://doi.org/10.1002/ajmg.1320450525]
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</li>
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<li>
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<p class="mim-text-font">
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Reisler, T. T., Patton, M. A., Meagher, P. P. J.
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<strong>Further phenotypic and genetic variation in ADULT syndrome.</strong>
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Am. J. Med. Genet. 140A: 2495-2500, 2006.
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[PubMed: 17041931]
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[Full Text: https://doi.org/10.1002/ajmg.a.31482]
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<li>
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<p class="mim-text-font">
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Rinne, T., Spadoni, E., Kjaer, K. W., Danesino, C., Larizza, D., Kock, M., Huoponen, K., Savontaus, M.-L., Aaltonen, M., Duijf, P., Brunner, H. G., Penttinen, M., van Bokhoven, H.
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<strong>Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene.</strong>
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Europ. J. Hum. Genet. 14: 904-910, 2006.
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[PubMed: 16724007]
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[Full Text: https://doi.org/10.1038/sj.ejhg.5201640]
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Slavotinek, A. M., Tanaka, J., Winder, A., Vargervik, K., Haggstrom, A., Bamshad, M.
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<strong>Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome: report of a child with phenotypic overlap with ulnar-mammary syndrome and a new mutation in TP63.</strong>
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Am. J. Med. Genet. 138A: 146-149, 2005.
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[PubMed: 16114047]
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[Full Text: https://doi.org/10.1002/ajmg.a.30900]
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Valenzise, M., Arrigo, T., De Luca, F., Privitera, A., Frigiola, A., Carando, A., Garelli, E., Silengo, M.
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<strong>R298Q mutation of p63 gene in autosomal dominant ectodermal dysplasia associated with arrhythmogenic right ventricular cardiomyopathy. (Letter)</strong>
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Europ. J. Med. Genet. 51: 497-500, 2008.
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[PubMed: 18603493]
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[Full Text: https://doi.org/10.1016/j.ejmg.2008.05.005]
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van Bokhoven, H., Hamel, B. C., Bamshad, M., Sangiorgi, E., Gurrieri, F., Duijf, P. H. G., Vanmolkot, K. R. J., van Beusekom, E., van Beersum, S. E. C., Celli, J., Merkx, G. F. M., Tenconi, R., and 13 others.
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<strong>p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-foot malformation suggest a genotype-phenotype correlation.</strong>
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Am. J. Hum. Genet. 69: 481-492, 2001.
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[PubMed: 11462173]
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[Full Text: https://doi.org/10.1086/323123]
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van Zelst-Stams, W. A. G., van Steensel, M. A. M.
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<strong>A novel TP63 mutation in a family with ADULT syndrome presenting with eczema and hypothelia. (Letter)</strong>
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Am. J. Med. Genet. 149A: 1558-1560, 2009.
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[PubMed: 19530185]
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[Full Text: https://doi.org/10.1002/ajmg.a.32881]
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Contributors:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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Marla J. F. O'Neill - updated : 12/16/2010<br>Marla J. F. O'Neill - updated : 1/22/2010<br>Marla J. F. O'Neill - updated : 12/4/2009<br>Marla J. F. O'Neill - updated : 2/5/2007<br>Cassandra L. Kniffin - updated : 9/21/2006<br>Cassandra L. Kniffin - updated : 10/21/2005<br>Michael B. Petersen - updated : 11/29/2001<br>Sonja A. Rasmussen - updated : 10/11/2000
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<span class="mim-text-font">
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Victor A. McKusick : 3/24/1993
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carol : 01/22/2020<br>carol : 05/24/2019<br>carol : 11/22/2016<br>wwang : 07/15/2011<br>alopez : 12/17/2010<br>terry : 12/16/2010<br>wwang : 1/28/2010<br>terry : 1/22/2010<br>carol : 12/23/2009<br>terry : 12/4/2009<br>wwang : 5/7/2009<br>wwang : 2/8/2007<br>wwang : 2/5/2007<br>wwang : 9/26/2006<br>ckniffin : 9/21/2006<br>alopez : 4/12/2006<br>wwang : 11/8/2005<br>ckniffin : 10/21/2005<br>cwells : 12/5/2001<br>cwells : 11/29/2001<br>carol : 10/11/2000<br>mcapotos : 10/11/2000<br>mimadm : 3/11/1994<br>carol : 3/24/1993
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