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Entry
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- #602501 - MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME; MCAP
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- OMIM
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<span class="h4">#602501</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<li role="presentation">
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<a href="/clinicalSynopsis/602501"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#diagnosis">Diagnosis</a>
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<a href="#cytogenetics">Cytogenetics</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#nomenclature">Nomenclature</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<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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<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 class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA 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=10805&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/NBK153722/" 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/4560" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://medlineplus.gov/genetics/condition/megalencephaly-capillary-malformation-syndrome" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=602501[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=60040" 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/015c65cd-cbcb-4b02-b279-04f2a61e7e94/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>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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<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> 700063005<br />
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<strong>ORPHA:</strong> 60040<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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602501
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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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MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME; MCAP
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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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MACROCEPHALY-CAPILLARY MALFORMATION; MCM<br />
|
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MEGALENCEPHALY-CAPILLARY MALFORMATION SYNDROME<br />
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MACROCEPHALY-CUTIS MARMORATA TELANGIECTATICA CONGENITA; MCMTC<br />
|
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MEGALENCEPHALY-CUTIS MARMORATA TELANGIECTATICA CONGENITA
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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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<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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</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/3/876?start=-3&limit=10&highlight=876">
|
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3q26.32
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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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Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic
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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/602501"> 602501 </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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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
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</td>
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<td>
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<span class="mim-font">
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PIK3CA
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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/171834"> 171834 </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/602501" 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 type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
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PheneGene Graphics <span class="caret"></span>
|
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
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<li><a href="/graph/linear/602501" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/602501" 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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<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>
|
|
</span>
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|
</div>
|
|
<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Somatic mutation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/124975008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">124975008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1866227&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1866227</a>, <a href="https://bioportal.bioontology.org/search?q=C0544886&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0544886</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001442" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001442</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001442" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001442</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">
|
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<strong> GROWTH </strong>
|
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</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">
|
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<em> Height </em>
|
|
</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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|
|
- Increased birth length <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2748450&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2748450</a>]</span><br />
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</span>
|
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
|
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<em> Weight </em>
|
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</span>
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</div>
|
|
<div style="margin-left: 2em;">
|
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<span class="mim-font">
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|
|
- Increased birth weight <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2748451&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2748451</a>]</span><br />
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</span>
|
|
</div>
|
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Other </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Somatic overgrowth, asymmetric <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2748452&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2748452</a>]</span><br /> -
|
|
Hemihyperplasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/205838004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">205838004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1856184&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1856184</a>, <a href="https://bioportal.bioontology.org/search?q=C0332890&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0332890</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001528" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001528</a>]</span><br />
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</span>
|
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</div>
|
|
</div>
|
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|
|
</div>
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</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Head </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Megalencephaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/9740002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">9740002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12138000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12138000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q04.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q04.5</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221355&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221355</a>, <a href="https://bioportal.bioontology.org/search?q=C2720434&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2720434</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001355" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001355</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001355" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001355</a>]</span><br /> -
|
|
Macrocephaly, progressive in infancy <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2748454&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2748454</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12138000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12138000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1145403003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1145403003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.3</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000256" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000256</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=dd989bb153739761147ef05dc870b050" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Macrocephaly-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=dd989bb153739761147ef05dc870b050" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Face </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Broad forehead <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1849089&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1849089</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000337" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000337</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000337" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000337</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=40e77945a1b2a5742a89317aeb604f00" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Forehead,Broad-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=40e77945a1b2a5742a89317aeb604f00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
|
|
Smooth philtrum <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1142533&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1142533</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000319" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000319</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000319" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000319</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=64d497514ce8c2250bd637c9cb83892d" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Philtrum,Smooth-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=64d497514ce8c2250bd637c9cb83892d" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Ears </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Fleshy earlobes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1844573&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1844573</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009748" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009748</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009748" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009748</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Epicanthus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/74824007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">74824007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0678230&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0678230</a>, <a href="https://bioportal.bioontology.org/search?q=C0229249&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0229249</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000286" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000286</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000286" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000286</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=fa053d9f3356802ac7574d8e4e8b274d" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Epicanthus-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=fa053d9f3356802ac7574d8e4e8b274d" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
|
|
Hypertelorism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22006008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22006008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/376.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">376.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020534&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020534</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Eyes,Widely_Spaced-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
|
|
Downslanting palpebral fissures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246800008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246800008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423110&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423110</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000494" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000494</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000494" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000494</a>]</span><br /> -
|
|
Unilateral microphthalmia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3554743&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3554743</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204108000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204108000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/61142002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">61142002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q11.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q11.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/743.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/743.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/743.11" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.11</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000568" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000568</a>]</span><br />
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</span>
|
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</div>
|
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</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Nose </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Flattened nasal bridge <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1836542&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1836542</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005280</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005280" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005280</a>]</span><br />
|
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</span>
|
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</div>
|
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
|
<em> Mouth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Narrow arched palate <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1857670&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1857670</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>
|
|
<span class="h5 mim-font">
|
|
<strong> CARDIOVASCULAR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
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<div>
|
|
<span class="h5 mim-font">
|
|
<em> Heart </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Ventricular septal defect <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/30288003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">30288003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253549006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253549006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/768552007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">768552007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q21.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q21.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/745.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">745.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0018818&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0018818</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001629" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001629</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001629" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001629</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
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|
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|
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Joint laxity <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/298203008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">298203008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/788453008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">788453008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862377&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862377</a>, <a href="https://bioportal.bioontology.org/search?q=C0086437&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0086437</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001382" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001382</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001382" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001382</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Hands </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- 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 /> -
|
|
Polydactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/367506006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">367506006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q69.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q69.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q69" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q69</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/755.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">755.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/755.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">755.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0152427&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0152427</a>, <a href="https://bioportal.bioontology.org/search?q=C2117329&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2117329</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010442" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010442</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010442" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010442</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Feet </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- 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 /> -
|
|
Polydactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/367506006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">367506006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q69.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q69.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/Q69" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q69</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/755.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">755.00</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/755.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">755.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0152427&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0152427</a>, <a href="https://bioportal.bioontology.org/search?q=C2117329&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2117329</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010442" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010442</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010442" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010442</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Skin </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Thick, loose, doughy skin <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2748457&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2748457</a>]</span><br /> -
|
|
Cutaneous vascular malformations <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/400042000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">400042000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1302793&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1302793</a>]</span><br /> -
|
|
Patchy, reticular stains <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2748458&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2748458</a>]</span><br /> -
|
|
Cutis marmorata <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26825009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26825009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0263401&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0263401</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000965" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000965</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000965" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000965</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> MUSCLE, SOFT TISSUES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
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<div>
|
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<span class="mim-font">
|
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|
- Thickened subcutaneous tissue <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2748456&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2748456</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">
|
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<strong> NEUROLOGIC </strong>
|
|
</span>
|
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</div>
|
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
|
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<em> Central Nervous System </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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|
|
- Developmental delay <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/248290002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">248290002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/224958001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">224958001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/F88" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">F88</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/315.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">315.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0557874&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0557874</a>, <a href="https://bioportal.bioontology.org/search?q=C0424605&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0424605</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001263" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001263</a>]</span><br /> -
|
|
Mental retardation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/228156007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">228156007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/110359009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">110359009</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/317-319.99" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">317-319.99</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3714756&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3714756</a>, <a href="https://bioportal.bioontology.org/search?q=C0025362&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025362</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001249" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001249</a>]</span><br /> -
|
|
Hypotonia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398151007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398151007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/398152000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">398152000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026827&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026827</a>, <a href="https://bioportal.bioontology.org/search?q=C1858120&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1858120</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001290" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001290</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001252" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001252</a>]</span><br /> -
|
|
Seizures <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/91175000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">91175000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0036572&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0036572</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001250" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001250</a>]</span><br /> -
|
|
MRI shows brain asymmetry <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2748441&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2748441</a>]</span><br /> -
|
|
Ventriculomegaly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/413808003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">413808003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1531647&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1531647</a>, <a href="https://bioportal.bioontology.org/search?q=C3278923&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3278923</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002119" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002119</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002119" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002119</a>]</span><br /> -
|
|
Hydrocephalus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/230745008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">230745008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/G91" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G91</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/G91.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">G91.9</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020255&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020255</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000238" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000238</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000238" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000238</a>]</span><br /> -
|
|
Large cerebellum, progressive <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2748442&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2748442</a>]</span><br /> -
|
|
Cerebellar tonsil herniation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2748443&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2748443</a>]</span><br /> -
|
|
Crowding of the posterior fossa <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2748444&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2748444</a>]</span><br /> -
|
|
Cavum septum pellucidum <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/74968005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">74968005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0228158&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0228158</a>, <a href="https://bioportal.bioontology.org/search?q=C1840380&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1840380</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002389" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002389</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002389" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002389</a>]</span><br /> -
|
|
Cavum vergae <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/33191008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">33191008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0228159&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0228159</a>]</span><br /> -
|
|
Polymicrogyria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/4945003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">4945003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266464&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266464</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002126" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002126</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002126" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002126</a>]</span><br /> -
|
|
Cortical dysgenesis <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2748445&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2748445</a>]</span><br /> -
|
|
Thickened corpus callosum <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1835194&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1835194</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007074" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007074</a>]</span><br /> -
|
|
Thickened optic nerve sheath <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2748447&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2748447</a>]</span><br /> -
|
|
Dilated venous sinuses <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2748448&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2748448</a>]</span><br /> -
|
|
White matter signal abnormalities in the deep white matter and periventricular regions <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2748449&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2748449</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
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|
|
</div>
|
|
|
|
</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ENDOCRINE FEATURES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Growth hormone deficiency <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/397827003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">397827003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/2109003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">2109003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0271561&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0271561</a>, <a href="https://bioportal.bioontology.org/search?q=C3714796&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3714796</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034323" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034323</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034323" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034323</a>]</span><br /> -
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Hypoglycemia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237630007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237630007</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/271327008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">271327008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/302866003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">302866003</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1179458001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1179458001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E16.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E16.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/251.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">251.2</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020615&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020615</a>, <a href="https://bioportal.bioontology.org/search?q=C5767385&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5767385</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001943" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001943</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001943" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001943</a>]</span><br />
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- Increased risk of meningioma <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2748455&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2748455</a>]</span><br /> -
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Increased risk of Wilms tumor <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2673526&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2673526</a>]</span><br /> -
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Increased risk of leukemia <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1969318&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1969318</a>]</span><br />
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<strong> LABORATORY ABNORMALITIES </strong>
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- Low or undetectable circulating IGF-1 and IGFBP-3 <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5830744&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5830744</a>]</span><br />
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<strong> MISCELLANEOUS </strong>
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- Variable other endocrine diagnoses have been rarely observed including central hypothyroidism, central adrenal insufficiency, type 1 diabetes, and osteoporosis with pathologic fractures<br />
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<strong> MOLECULAR BASIS </strong>
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- Caused by somatic mutation in the phosphatidylinositol 3-kinase, catalytic, alpha polypeptide gene (PIK3CA, <a href="/entry/171834#0003">171834.0003</a>)<br />
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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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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<p>A number sign (#) is used with this entry because some cases of megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) have been found to have somatic mutations in the PIK3CA gene (<a href="/entry/171834">171834</a>) on chromosome 3q26.</p>
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<p>Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is characterized by a spectrum of anomalies including primary megalencephaly, prenatal overgrowth, brain and body asymmetry, cutaneous vascular malformations, digital anomalies consisting of syndactyly with or without postaxial polydactyly, connective tissue dysplasia involving the skin, subcutaneous tissue, and joints, and cortical brain malformations, most distinctively polymicrogyria (summary by <a href="#13" class="mim-tip-reference" title="Mirzaa, G. M., Conway, R. L., Gripp, K. W., Lerman-Sagie, T., Siegel, D. H., deVries, L. S., Lev, D., Kramer, N., Hopkins, E., Graham, J. M., Jr., Dobyns, W. B. <strong>Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.</strong> Am. J. Med. Genet. 158A: 269-291, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22228622/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22228622</a>] [<a href="https://doi.org/10.1002/ajmg.a.34402" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22228622">Mirzaa et al., 2012</a>). This disorder is also known as the macrocephaly-capillary malformation (MCM) syndrome (<a href="#4" class="mim-tip-reference" title="Conway, R. L., Pressman, B. D., Dobyns, W. B., Danielpour, M., Lee, J., Sanchez-Lara, P. A., Butler, M. G., Zackai, E., Campbell, L., Saitta, S. C., Clericuzio, C. L., Milunsky, J. M., Hoyme, H. E., Shieh, J., Moeschler, J. B., Crandall, B., Lauzon, J. L., Viskochil, D. H., Harding, B., Graham, J. M., Jr. <strong>Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients.</strong> Am. J. Med. Genet. 143A: 2981-3008, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18000912/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18000912</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18000912[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ajmg.a.32040" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18000912">Conway et al., 2007</a>). <a href="#13" class="mim-tip-reference" title="Mirzaa, G. M., Conway, R. L., Gripp, K. W., Lerman-Sagie, T., Siegel, D. H., deVries, L. S., Lev, D., Kramer, N., Hopkins, E., Graham, J. M., Jr., Dobyns, W. B. <strong>Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.</strong> Am. J. Med. Genet. 158A: 269-291, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22228622/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22228622</a>] [<a href="https://doi.org/10.1002/ajmg.a.34402" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22228622">Mirzaa et al. (2012)</a> suggested use of the term MCAP rather than MCM to reflect the very large brain size, rather than simply large head size, that characterizes this syndrome, and the importance and high frequency of perisylvian polymicrogyria. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18000912+22228622" 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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<strong>Clinical Features</strong>
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<p><a href="#14" class="mim-tip-reference" title="Moore, C. A., Toriello, H. A., Abuelo, D. N., Bull, M. J., Curry, C. J. R., Hall, B. D., Higgins, J. V., Stevens, C. A., Twersky, S., Weksberg, R., Dobys, W. B. <strong>Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormality.</strong> Am. J. Med. Genet. 70: 67-73, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9129744/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9129744</a>]" pmid="9129744">Moore et al. (1997)</a> described 13 unrelated children with abnormalities of somatic growth, face, brain, and connective tissue including vasculature. They proposed that these children had a distinct disorder, megalencephaly-cutis marmorata telangiectatica congenita (MCMTC), with the features of cutis marmorata, nevus flammeus, cavernous hemangiomas, asymmetric growth pattern, central nervous system malformations, and neurologic abnormalities. See <a href="/entry/219250">219250</a> for a discussion of cutis marmorata telangiectatica congenita (CMTC) without report of the other major findings. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9129744" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Clayton-Smith, J., Kerr, B., Brunner, H., Tranebjaerg, L., Magee, A., Hennekam, R. C. M., Mueller, R. F., Brueton, L., Super, M., Steen-Johnsen, J., Donnai, D. <strong>Macrocephaly with cutis marmorata, haemangioma and syndactyly: a distinctive overgrowth syndrome.</strong> Clin. Dysmorph. 6: 291-302, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9354837/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9354837</a>] [<a href="https://doi.org/10.1097/00019605-199710000-00001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9354837">Clayton-Smith et al. (1997)</a> described 9 additional patients and recognized the macrocephaly-CMTC syndrome as a distinct entity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9354837" 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="Carcao, M., Blaser, S. I., Grant, R. M., Weksberg, R., Siegel-Bartelt, J. <strong>MRI findings in macrocephaly-cutis marmorata telangiectatica congenita.</strong> Am. J. Med. Genet. 76: 165-167, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9511980/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9511980</a>]" pmid="9511980">Carcao et al. (1998)</a> described a child, with nonconsanguineous parents of Guyanese ancestry, with cherry red macules, megalencephaly with hemifacial and segmental overgrowth, macrosomia, cutis marmorata telangiectatica congenita of the trunk, and visceral and subcutaneous cavernous hemangiomas. The megalencephaly was accompanied by MRI findings of CNS dysgenesis with protrusion of the cerebellar tonsils through the foramen magnum (Chiari type I; <a href="/entry/118420">118420</a>), lumbar syrinx, and hydrops of the optic nerves. The findings in the patient suggest that a visceral hemangioma and cherry red macules in the eye may be findings of MCMTC. The cases reported by <a href="#14" class="mim-tip-reference" title="Moore, C. A., Toriello, H. A., Abuelo, D. N., Bull, M. J., Curry, C. J. R., Hall, B. D., Higgins, J. V., Stevens, C. A., Twersky, S., Weksberg, R., Dobys, W. B. <strong>Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormality.</strong> Am. J. Med. Genet. 70: 67-73, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9129744/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9129744</a>]" pmid="9129744">Moore et al. (1997)</a> and <a href="#2" class="mim-tip-reference" title="Carcao, M., Blaser, S. I., Grant, R. M., Weksberg, R., Siegel-Bartelt, J. <strong>MRI findings in macrocephaly-cutis marmorata telangiectatica congenita.</strong> Am. J. Med. Genet. 76: 165-167, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9511980/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9511980</a>]" pmid="9511980">Carcao et al. (1998)</a> supported the concept of CNS and vascular dysgenesis in MCMTC. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9511980+9129744" 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="#18" class="mim-tip-reference" title="Vogels, A., Devriendt, K., Legius, E., Decock, P., Marien, J., Hendrickx, G., Fryns, J. P. <strong>The macrocephaly-cutis marmorata telangiectatica congenita syndrome: long-term follow-up data in 4 children and adolescents.</strong> Genet. Counsel. 9: 245-253, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9894160/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9894160</a>]" pmid="9894160">Vogels et al. (1998)</a> reviewed 4 children with the same association of macrocephaly-body asymmetry-cutis marmorata telangiectatica and cutaneous hemangiomas observed over a period of 20 years. They commented on a distinct craniofacial appearance with macrocephaly and full lips. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9894160" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#19" class="mim-tip-reference" title="Yano, S., Watanabe, Y. <strong>Association of arrhythmia and sudden death in macrocephaly-cutis marmorata telangiectatica congenita syndrome.</strong> Am. J. Med. Genet. 102: 149-152, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11477607/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11477607</a>] [<a href="https://doi.org/10.1002/ajmg.1428" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11477607">Yano and Watanabe (2001)</a> described 3 cases with features of macrocephaly-cutis marmorata telangiectatica congenita with poor clinical outcomes. All cases showed severe growth failure resulting in a weight below the second percentile before a year of age, 2 cases died suddenly of unknown cause at 33 and 19 months, and a third developed atrial flutter, leading to hypotensive shock during a viral illness at age 13 months. The authors suggested that a distinct clinical subtype of MCMTC may exist, and recommended that patients with this condition presenting with severe failure to thrive be closely monitored for arrhythmia and life-threatening episodes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11477607" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Lapunzina, P., Gairi, A., Delicado, A., Mori, M. A., de Torres, M. L., Goma, A., Navia, M., Lopez Pajares, I. <strong>Macrocephaly-cutis marmorata telangiectasia congenita: report of six new patients and a review.</strong> Am. J. Med. Genet. 130A: 45-51, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15368495/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15368495</a>] [<a href="https://doi.org/10.1002/ajmg.a.30235" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15368495">Lapunzina et al. (2004)</a> reported 6 additional patients with MCMTC and reviewed 69 previously reported patients. Based on their findings, they listed the very frequent (observed in more than 75%), frequent (25 to 75%), and less frequent (less than 25%) components of the syndrome. Mode of inheritance was not clear from this analysis. There was a slight preponderance of males (male:female ratio, 41:33). No affected parents or sibs were observed. Increased paternal age was noted in several cases and parental consanguinity in some. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15368495" 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="Giuliano, F., David, A., Edery, P., Sigaudy, S., Bonneau, D., Cormier-Daire, V., Philip, N. <strong>Macrocephaly-cutis marmorata telangiectatica congenita: seven cases including two with unusual cerebral manifestations.</strong> Am. J. Med. Genet. 126A: 99-103, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15039980/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15039980</a>] [<a href="https://doi.org/10.1002/ajmg.a.20551" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15039980">Giuliano et al. (2004)</a> described 7 patients with MCMTC, including 2 with unusual cerebral manifestations and severe outcomes. One had a complex congenital heart defect and died in the neonatal period; brain MRI revealed generalized cortical dysplasia. The other had an ischemic stroke at age 14; cerebral arteriography showed an abnormal vascular pattern. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15039980" 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="Garavelli, L., Leask, K., Zanacca, C., Pedori, S., Albertini, G., Della Giustina, E., Croci, G. F., Magnani, C., Banchini, G., Clayton-Smith, J., Bocian, M., Firth, H., Gold, J. A., Hurst, J. <strong>MRI and neurological findings in macrocephaly-cutis marmorata telangiectatica congenita syndrome: report of ten cases and review of the literature.</strong> Genet. Counsel. 16: 117-128, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16080291/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16080291</a>]" pmid="16080291">Garavelli et al. (2005)</a> reported 10 patients with MCMTC, all of whom had some structural cerebral abnormalities on MRI, including asymmetric hemimegalencephaly, Chiari type I malformation (70%), enlargement of the lateral ventricles, and an abnormally increased signal of periventricular white matter. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16080291" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Conway, R. L., Pressman, B. D., Dobyns, W. B., Danielpour, M., Lee, J., Sanchez-Lara, P. A., Butler, M. G., Zackai, E., Campbell, L., Saitta, S. C., Clericuzio, C. L., Milunsky, J. M., Hoyme, H. E., Shieh, J., Moeschler, J. B., Crandall, B., Lauzon, J. L., Viskochil, D. H., Harding, B., Graham, J. M., Jr. <strong>Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients.</strong> Am. J. Med. Genet. 143A: 2981-3008, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18000912/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18000912</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18000912[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ajmg.a.32040" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18000912">Conway et al. (2007)</a> reported a longitudinal analysis of neuroimaging findings in 17 patients with macrocephaly-capillary malformation. More than half the patients had cerebellar tonsillar herniation associated with rapid brain growth and progressive crowding of the posterior fossa during infancy. Concurrent findings included ventriculomegaly and dilated dural venous sinuses, reflecting a dynamic process of mechanical compromise in the posterior fossa. The malformation was considered to be distinct from Chiari malformation type I as it appeared to be acquired in at least 4 patients. There was also evidence of abnormal cortical morphogenesis, including focal cortical dysplasia, polymicrogyria, and cerebral and/or cerebellar asymmetric overgrowth. Other findings included a high frequency of cavum septum pellucidum or vergae, thickened corpus callosum, prominent optic nerve sheaths and a single case of venous sinus thrombosis. One patient was found to have a frontal perifalcine mass resembling a meningioma at age 5 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18000912" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Canham, N. L. E., Holder, S. E. <strong>Macrocephaly-cutis marmorata telangiectatica congenita: a report on the natural history of a mild case.</strong> Clin. Dysmorph. 17: 279-281, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18978660/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18978660</a>] [<a href="https://doi.org/10.1097/MCD.0b013e3283136948" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18978660">Canham and Holder (2008)</a> described a 14-year-old girl with mild MCMTC who was noted to have 'mottled skin' in infancy that had faded by the time of presentation at 3.5 years of age, at which examination she was noted to have macrocephaly, capillary hemangioma over the upper eyelids, nasal bridge, upper lip, and philtrum, and a faint pigmented area over the lower back. In early childhood, she had been diagnosed with a semantic pragmatic language disorder, although she subsequently entered mainstream school without a statement of special educational needs. At 14 years of age, she developed marked varicose veins around her left knee and was found to have incompetence of the long saphenous vein on Duplex scan, with no evidence of other structural anomalies. Her facial hemangioma had almost entirely resolved. Growth had ceased at menarche 3 years earlier, and although her height and head circumference were above the 99.6th centile, the authors noted that those parameters would likely be within the normal range in adulthood. Her secondary dentition had come in earlier than usual, and her teeth were very large, such that several had to be removed. <a href="#1" class="mim-tip-reference" title="Canham, N. L. E., Holder, S. E. <strong>Macrocephaly-cutis marmorata telangiectatica congenita: a report on the natural history of a mild case.</strong> Clin. Dysmorph. 17: 279-281, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18978660/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18978660</a>] [<a href="https://doi.org/10.1097/MCD.0b013e3283136948" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18978660">Canham and Holder (2008)</a> concluded that it is possible to have this condition and function within the normal range or with only minor problems, particularly for children with no structural brain anomaly. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18978660" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Gripp, K. W., Hopkins, E., Vinkler, C., Lev, D., Malinger, G., Lerman-Sagie, T., Dobyns, W. B. <strong>Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes.</strong> Am. J. Med. Genet. 149A: 868-876, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19353582/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19353582</a>] [<a href="https://doi.org/10.1002/ajmg.a.32732" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19353582">Gripp et al. (2009)</a> reported 3 unrelated patients with a phenotype consistent with MCM. In the first patient, brain MRI showed striking megalencephaly and polymicrogyria, along with very large ventricles and cerebellar tonsillar herniation filling the cisterna magna. She had a nevus flammeus extending over the forehead, nose, and philtrum, as well as a capillary malformation resembling cutis marmorata over the trunk and extremities. She had mild coarse dysmorphic features, such as low nasal bridge, wide lips, and low-set ears. Other features included ventricular septal defect and a vascular ring formed by a right aortic arch and aberrant left subclavian artery, as well as vesicoureteral reflux. The second child had megalencephaly with mild ventriculomegaly and diffuse bilateral polymicrogyria. Other features included postaxial polysyndactyly of one foot, frontal bossing, depressed nasal bridge, hypertelorism, low-set ears, and mild hemihyperplasia of the right face. Skin findings included a large hemangioma over the left elbow, a facial nevus flammeus that extended from the upper lip to the forehead, and generalized cutis marmorata. The third child had increasing macrocephaly from birth. Brain MRI at age 6 weeks showed large brain size, extensive asymmetric bilateral polymicrogyria, and mildly enlarged lateral ventricles. Repeat brain MRI at age 5 months demonstrated progressive ventricular enlargement and cerebellar tonsillar herniation filling the cisterna magna and crowding the back of the brainstem and upper cervical spinal cord. There was frontal bossing, mildly deep-set eyes, and thickened soft tissue of the cheeks, philtrum and lips. Although there was no syndactyly, polydactyly, or visible capillary malformation, he had mild cutis marmorata, and abdominal ultrasound reportedly showed a vascular anomaly beneath the umbilicus. All children were born premature at 30, 34, and 38 weeks' gestation, respectively. All were less than 12 months of age at the time of the report, and all showed hypotonia with delayed development. None of the parents were related, and there was no family history in any case. <a href="#9" class="mim-tip-reference" title="Gripp, K. W., Hopkins, E., Vinkler, C., Lev, D., Malinger, G., Lerman-Sagie, T., Dobyns, W. B. <strong>Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes.</strong> Am. J. Med. Genet. 149A: 868-876, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19353582/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19353582</a>] [<a href="https://doi.org/10.1002/ajmg.a.32732" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19353582">Gripp et al. (2009)</a> noted that 2 of the patients had an initial diagnosis of megalencephaly, polymicrogyria-polydactyly hydrocephalus syndrome (MPPH; <a href="/entry/603387">603387</a>), a similar syndrome with overlapping features. <a href="#9" class="mim-tip-reference" title="Gripp, K. W., Hopkins, E., Vinkler, C., Lev, D., Malinger, G., Lerman-Sagie, T., Dobyns, W. B. <strong>Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes.</strong> Am. J. Med. Genet. 149A: 868-876, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19353582/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19353582</a>] [<a href="https://doi.org/10.1002/ajmg.a.32732" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19353582">Gripp et al. (2009)</a> suggested that the 2 disorders may be related or on the same phenotypic spectrum; they proposed the term MPPH-CM to refer to this phenotypic spectrum. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19353582" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Davis, S., Ware, M. A., Zeiger, J., Deardorff, M. A., Grand, K., Grimberg, A., Hsu, S., Kelsey, M., Majidi, S., Matthew, R. P., Napier, M., Nokoff, N., Prasad, C., Riggs, A. C., McKinnon, M. L., Mirzaa, G. <strong>Growth hormone deficiency in megalencephaly-capillary malformation syndrome: An association with activating mutations in PIK3CA.</strong> Am. J. Med. Genet. 182A: 162-168, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/31729162/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">31729162</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=31729162[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ajmg.a.61403" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="31729162">Davis et al. (2020)</a> reported 11 patients with a molecularly (9 patients) or clinically (2 patients) confirmed diagnosis of MCAP who also had growth hormone (GH) deficiency. The patients, recruited through an observational multicenter study, all had very low or undetectable circulating concentrations of insulin-like growth factor-1 (IGF1; <a href="/entry/147440">147440</a>) and insulin-like growth factor-binding protein-3 (IGFBP3; <a href="/entry/146732">146732</a>). A drastic decline in linear growth z-scores was noted in the first year of life, but growth stabilized in the low-normal range afterward. Mean age of onset was 3.2 years (range, 1.2-9.2 years). Seven patients underwent GH stimulation testing, and all had insufficient responses. Five patients received GH treatment, which was discontinued in 1 patient after a week due to inconsolability. The other 4 patients continued on GH treatment with substantial increases in linear growth velocity and no reported side effects, including no worsening of macrocephaly or hemihypertrophy. Five of the 11 patients had confirmed hypoglycemia, which preceded the diagnosis of GH deficiency in 4 patients. Other endocrine diagnoses included cryptorchidism in 2 patients and central hypothyroidism, central adrenal insufficiency, type 1 diabetes, and osteoporosis with pathologic fractures in 1 patient each. The authors recommended that children with MCAP and either hypoglycemia or postnatal growth failure be evaluated for GH deficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=31729162" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#6" class="mim-tip-reference" title="Franceschini, P., Licata, D., Di Cara, G., Guala, A., Franceschini, D., Genitori, L. <strong>Macrocephaly-cutis marmorata telangiectatica congenita without cutis marmorata?</strong> Am. J. Med. Genet. 90: 265-269, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10710221/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10710221</a>]" pmid="10710221">Franceschini et al. (2000)</a> reported 2 patients with features consistent with a diagnosis of MCMTC, only one of whom had typical cutis marmorata when examined at age 4 months. Based on these cases and their review of the literature, the authors suggested that macrocephaly and at least 2 of the main reported findings (i.e., overgrowth, cutis marmorata, angiomata, polydactyly/syndactyly, asymmetry) are necessary for the diagnosis of MCMTC. They also noted the increased risk for development of nonobstructive hydrocephalus in this syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10710221" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Martinez-Glez, V., Romanelli, V., Mori, M. A., Gracia, R., Segovia, M., Gonzalez-Meneses, A., Lopez-Gutierrez, J. C., Gean, E., Martorell, L., Lapunzina, P. <strong>Macrocephaly-capillary malformation: analysis of 13 patients and review of the diagnostic criteria.</strong> Am. J. Med. Genet. 152A: 3101-3106, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21077203/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21077203</a>] [<a href="https://doi.org/10.1002/ajmg.a.33514" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21077203">Martinez-Glez et al. (2010)</a> reported 13 Spanish patients with MCM and proposed diagnostic criteria. Among their patients, the most frequent features were neuroimaging alterations (100%), macrocephaly (92%), overgrowth (92%), capillary malformations (85%), developmental delay (85%), and asymmetry (62%). Less common features included capillary malformation of the nose, lip and/or philtrum (54%), hydrocephalus (46%), hypotonia (46%), joint laxity (38%), tonsillar herniation/Chiari I (31%), syndactyly of the toes (31%), hemimegalencephaly (31%), polymicrogyria (31%), and frontal bossing (25%). The proposed diagnostic criteria included 3 of 4 major criteria and 2 of 7 minor criteria. Major criteria included macrocephaly, capillary malformation, overgrowth/asymmetry, and neuroimaging alterations. Minor criteria included developmental delay, midline facial capillary malformation, neonatal hypotonia, syndactyly/polydactyly, frontal bossing, connective tissue abnormalities, and hydrocephalus. Genomewide SNP array analysis did not identify any altered gene or region common to all patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21077203" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#13" class="mim-tip-reference" title="Mirzaa, G. M., Conway, R. L., Gripp, K. W., Lerman-Sagie, T., Siegel, D. H., deVries, L. S., Lev, D., Kramer, N., Hopkins, E., Graham, J. M., Jr., Dobyns, W. B. <strong>Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.</strong> Am. J. Med. Genet. 158A: 269-291, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22228622/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22228622</a>] [<a href="https://doi.org/10.1002/ajmg.a.34402" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22228622">Mirzaa et al. (2012)</a> reviewed the phenotypic features of 42 patients with a megalencephalic syndrome in an attempt to clarify and simplify the categorization and diagnosis of these disorders. Statistical analysis of particular features yielded 2 main groups: 21 patients with a vascular malformation consistent with MCAP and 19 with no vascular malformation consistent with MPPH; 2 patients were in an overlap group. Vascular malformations were significantly associated with syndactyly and somatic overgrowth at birth, and lack of vascular malformations was associated with polydactyly. The various features were assigned to 5 major classes of developmental abnormalities. Both MCAP and MPPH had (1) megalencephaly and variable somatic overgrowth (particularly in MCAP); (2) distal limb malformations, syndactyly being more associated with MCAP and polydactyly with MPPH; and (3) similar cortical brain malformations (mainly polymicrogyria). In addition, MCAP included (4) developmental vascular abnormalities and (5) occasional connective tissue dysplasia, such as hyperelasticity or thick skin. MPPH lacks vascular malformations, connective tissue dysplasia, and heterotopia. Based on these findings, <a href="#13" class="mim-tip-reference" title="Mirzaa, G. M., Conway, R. L., Gripp, K. W., Lerman-Sagie, T., Siegel, D. H., deVries, L. S., Lev, D., Kramer, N., Hopkins, E., Graham, J. M., Jr., Dobyns, W. B. <strong>Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.</strong> Am. J. Med. Genet. 158A: 269-291, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22228622/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22228622</a>] [<a href="https://doi.org/10.1002/ajmg.a.34402" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22228622">Mirzaa et al. (2012)</a> proposed diagnostic criteria for the MCAP and MPPH syndromes, and postulated that the 2 disorders represent different, although overlapping, syndromes that may be caused by different genes involved in the same biologic pathway. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22228622" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#16" class="mim-tip-reference" title="Stoll, C. <strong>Macrocephaly-cutis marmorata telangiectatica congenita: report of a patient with a translocation.</strong> Genet. Counsel. 14: 173-179, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12872811/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12872811</a>]" pmid="12872811">Stoll (2003)</a> reported a patient with MCMTC who carried a de novo translocation t(2;17)(p11;p13). At birth the patient had widespread erythematous violaceous reticulate cutaneous marking, nevus flammeus of the philtrum, syndactyly of third and fourth fingers of the right hand, prominent forehead, upslanting palpebral fissures, flat nasal bridge, and hypotonia. Transfontanellar ultrasound showed mild ventriculomegaly. Motor development was delayed. At 18 months of age CT scan showed cerebral asymmetry and dilated cerebral ventricles; a ventriculoperitoneal shunt was inserted. Right upper and lower limbs were larger than those on the left. Knees, ankles, and small joints of the hands were hypermobile. The patient died suddenly at 8 years of age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12872811" 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="#15" class="mim-tip-reference" title="Riviere, J.-B., Mirzaa, G. M., O'Roak, B. J., Beddaoui, M., Alcantara, D., Conway, R. L., St-Onge, J., Schwartzentruber, J. A., Gripp, K. W., Nikkel, S. M., Worthylake, T., Sullivan, C. T., and 29 others. <strong>De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.</strong> Nature Genet. 44: 934-940, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22729224/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22729224</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22729224[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2331" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22729224">Riviere et al. (2012)</a> conducted exome sequencing in an individual with MCAP and his parents and performed an analysis of de novo mutations in this trio by including the raw variants that did not meet their initial hard-filtering criteria. Using this approach, they identified a missense change in the PIK3CA gene (G914R; <a href="/entry/171834#0011">171834.0011</a>), which encodes the p110-catalytic subunit of class IA PI3K. This mutation was supported by 20 of 177 reads (11%) in the exome sequencing data and was confirmed to be de novo and mosaic by Sanger sequencing and a custom restriction enzyme assay. <a href="#15" class="mim-tip-reference" title="Riviere, J.-B., Mirzaa, G. M., O'Roak, B. J., Beddaoui, M., Alcantara, D., Conway, R. L., St-Onge, J., Schwartzentruber, J. A., Gripp, K. W., Nikkel, S. M., Worthylake, T., Sullivan, C. T., and 29 others. <strong>De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.</strong> Nature Genet. 44: 934-940, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22729224/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22729224</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22729224[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2331" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22729224">Riviere et al. (2012)</a> then sequenced the coding exons of PIK3CA in 29 individuals with megalencephaly with no mutations in the AKT3 (<a href="/entry/611223">611223</a>) or PIK3R2 (<a href="/entry/603157">603157</a>) genes and identified 14 additional PIK3CA mutations, with mutant allele frequencies ranging from 10 to 50%. Standard variant calling in exomes from 7 additional subjects with MCAP identified a mutation of the PIK3CA gene (C378Y; <a href="/entry/171834#0012">171834.0012</a>) that was supported by 68 of 250 reads (27%) in another individual. This mutation showed variable levels of mosaicism depending on the tissue tested. Manual inspection of the Sequence Alignment/Map (SAM) files of the remaining 6 subjects with MCAP of unknown cause using the Integrative Genomics Viewer revealed other candidate mosaic mutations in the PIK3CA gene in all of the 6 affected individuals, with mutations represented by 2 to 15% of the total reads. Sanger sequencing, a custom restriction enzyme assay, or both, confirmed all 6 mutations. <a href="#15" class="mim-tip-reference" title="Riviere, J.-B., Mirzaa, G. M., O'Roak, B. J., Beddaoui, M., Alcantara, D., Conway, R. L., St-Onge, J., Schwartzentruber, J. A., Gripp, K. W., Nikkel, S. M., Worthylake, T., Sullivan, C. T., and 29 others. <strong>De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.</strong> Nature Genet. 44: 934-940, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22729224/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22729224</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22729224[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2331" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22729224">Riviere et al. (2012)</a> next performed targeted ultra-deep sequencing (coverage of more than 10,000 reads) of 5 mutation sites in 15 mutation-negative affected individuals, as well as in known mutation carriers and control individuals. This experiment confirmed all previously identified mutations and detected 2 additional low-level mosaic mutations missed by Sanger sequencing. Both were confirmed by a second deep-sequencing experiment and showed mutant allele frequencies ranging from 1 to 8%. <a href="#15" class="mim-tip-reference" title="Riviere, J.-B., Mirzaa, G. M., O'Roak, B. J., Beddaoui, M., Alcantara, D., Conway, R. L., St-Onge, J., Schwartzentruber, J. A., Gripp, K. W., Nikkel, S. M., Worthylake, T., Sullivan, C. T., and 29 others. <strong>De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.</strong> Nature Genet. 44: 934-940, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22729224/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22729224</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22729224[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2331" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22729224">Riviere et al. (2012)</a> identified a total of 24 affected individuals with PIK3CA mutations, and all but 3 (LR06-220, LR11-153, and LR11-230) showed evidence of postzygotic mosaicism. In 13 individuals with MCAP, no mutation was found in the PIK3CA gene, the PTEN gene (<a href="/entry/601728">601728</a>), or 4 other genes encoding subunits of class IA PI3K. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22729224" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Lee, J. H., Huynh, M., Silhavy, J. L., Kim, S., Dixon-Salazar, T., Heiberg, A., Scott, E., Bafna, V., Hill, K. J., Collazo, A., Funari, V., Russ, C., Gabriel, S. B., Mathern, G. W., Gleeson, J. G. <strong>De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly.</strong> Nature Genet. 44: 941-945, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22729223/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22729223</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22729223[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2329" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22729223">Lee et al. (2012)</a> performed whole-exome sequencing on brain and peripheral blood DNA from 5 HME cases and identified 3 missense mutations: one in the PIK3CA gene (E545K; <a href="/entry/171834#0003">171834.0003</a>), one in the AKT3 gene (E17K; <a href="/entry/611223#0003">611223.0003</a>), and one in the MTOR gene (C1483Y; see <a href="/entry/616638">616638</a>). The individual with the MTOR gene mutation also carried a diagnosis of hypomelanosis of Ito (<a href="/entry/300337">300337</a>). <a href="#11" class="mim-tip-reference" title="Lee, J. H., Huynh, M., Silhavy, J. L., Kim, S., Dixon-Salazar, T., Heiberg, A., Scott, E., Bafna, V., Hill, K. J., Collazo, A., Funari, V., Russ, C., Gabriel, S. B., Mathern, G. W., Gleeson, J. G. <strong>De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly.</strong> Nature Genet. 44: 941-945, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22729223/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22729223</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22729223[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2329" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22729223">Lee et al. (2012)</a> then used a modified single base-extension protocol followed by mass spectrometry analysis to detect somatic mutations at a frequency as low as 3% in genetically heterogeneous samples. Reanalysis of the same DNA samples used for whole-exome sequencing again showed the absence of the mutant allele in blood but its presence in the brain, with similar mutation burden as that detected with Illumina sequencing. These somatic mutations were detected at a frequency of 36.6%, 40.4%, and 8.1% in each brain sample. Using the same technology, <a href="#11" class="mim-tip-reference" title="Lee, J. H., Huynh, M., Silhavy, J. L., Kim, S., Dixon-Salazar, T., Heiberg, A., Scott, E., Bafna, V., Hill, K. J., Collazo, A., Funari, V., Russ, C., Gabriel, S. B., Mathern, G. W., Gleeson, J. G. <strong>De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly.</strong> Nature Genet. 44: 941-945, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22729223/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22729223</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22729223[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.2329" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22729223">Lee et al. (2012)</a> screened for these mutations in 15 other HME cases and identified 3 additional cases carrying the PIK3CA E545K variant, each with a mutation burden of about 30%. One of these individuals had hypertrophic regions in the right hand and foot. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22729223" 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="#17" class="mim-tip-reference" title="Toriello, H. V., Mulliken, J. B. <strong>Accurately renaming macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) as macrocephaly-capillary malformation (M-CM).</strong> Am. J. Med. Genet. 143A: 3009 only, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17963258/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17963258</a>] [<a href="https://doi.org/10.1002/ajmg.a.31971" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17963258">Toriello and Mulliken (2007)</a> suggested that the name MCMTC should be changed to MCM, for 'macrocephaly-capillary malformation.' The authors argued that the vascular lesions in this disorder are neither cutis marmorata nor cutis marmorata telangiectatica congenita, but are rather a type of capillary malformation in a patchy reticular pattern. <a href="#13" class="mim-tip-reference" title="Mirzaa, G. M., Conway, R. L., Gripp, K. W., Lerman-Sagie, T., Siegel, D. H., deVries, L. S., Lev, D., Kramer, N., Hopkins, E., Graham, J. M., Jr., Dobyns, W. B. <strong>Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.</strong> Am. J. Med. Genet. 158A: 269-291, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22228622/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22228622</a>] [<a href="https://doi.org/10.1002/ajmg.a.34402" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22228622">Mirzaa et al. (2012)</a> suggested use of the term MCAP rather than MCM to reflect the very large brain size, rather than simply large head size, that characterizes this syndrome, and the importance and high frequency of perisylvian polymicrogyria. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=22228622+17963258" 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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<strong>Macrocephaly-cutis marmorata telangiectatica congenita: a report on the natural history of a mild case.</strong>
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Clin. Dysmorph. 17: 279-281, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18978660/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18978660</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18978660" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Carcao, M., Blaser, S. I., Grant, R. M., Weksberg, R., Siegel-Bartelt, J.
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<strong>MRI findings in macrocephaly-cutis marmorata telangiectatica congenita.</strong>
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Am. J. Med. Genet. 76: 165-167, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9511980/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9511980</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9511980" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Yano, S., Watanabe, Y.
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<strong>Association of arrhythmia and sudden death in macrocephaly-cutis marmorata telangiectatica congenita syndrome.</strong>
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Am. J. Med. Genet. 102: 149-152, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11477607/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11477607</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11477607" 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.1428" target="_blank">Full Text</a>]
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Sonja A. Rasmussen - updated : 06/23/2023
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Nara Sobreira - updated : 11/14/2012<br>Anne M. Stumpf - updated : 4/16/2012<br>Cassandra L. Kniffin - updated : 4/10/2012<br>Marla J. F. O'Neill - updated : 7/6/2010<br>Cassandra L. Kniffin - updated : 10/19/2009<br>Cassandra L. Kniffin - updated : 1/9/2009<br>Marla J. F. O'Neill - updated : 8/31/2005<br>Marla J. F. O'Neill - updated : 8/19/2005<br>Victor A. McKusick - updated : 12/1/2004<br>Victor A. McKusick - updated : 9/12/2003<br>Sonja A. Rasmussen - updated : 8/23/2001<br>Sonja A. Rasmussen - updated : 3/2/2000<br>Victor A. McKusick - updated : 2/10/1999
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Victor A. McKusick : 4/7/1998
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carol : 06/23/2023
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carol : 08/25/2020<br>carol : 11/11/2015<br>carol : 11/21/2012<br>terry : 11/14/2012<br>alopez : 4/23/2012<br>alopez : 4/16/2012<br>alopez : 4/12/2012<br>ckniffin : 4/10/2012<br>carol : 12/22/2011<br>ckniffin : 12/20/2011<br>carol : 6/20/2011<br>carol : 7/30/2010<br>wwang : 7/12/2010<br>terry : 7/6/2010<br>wwang : 11/6/2009<br>ckniffin : 10/19/2009<br>wwang : 2/16/2009<br>ckniffin : 1/9/2009<br>wwang : 8/31/2005<br>wwang : 8/31/2005<br>carol : 8/24/2005<br>terry : 8/19/2005<br>tkritzer : 12/2/2004<br>terry : 12/1/2004<br>cwells : 9/12/2003<br>mcapotos : 8/23/2001<br>mcapotos : 3/8/2000<br>mcapotos : 3/2/2000<br>mgross : 3/10/1999<br>carol : 2/15/1999<br>mgross : 2/15/1999<br>terry : 2/10/1999<br>carol : 4/7/1998
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<strong>#</strong> 602501
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MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME; MCAP
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<em>Alternative titles; symbols</em>
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MACROCEPHALY-CAPILLARY MALFORMATION; MCM<br />
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MEGALENCEPHALY-CAPILLARY MALFORMATION SYNDROME<br />
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MACROCEPHALY-CUTIS MARMORATA TELANGIECTATICA CONGENITA; MCMTC<br />
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MEGALENCEPHALY-CUTIS MARMORATA TELANGIECTATICA CONGENITA
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<strong>SNOMEDCT:</strong> 700063005;
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<strong>ORPHA:</strong> 60040;
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<strong>Phenotype-Gene Relationships</strong>
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Phenotype
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Inheritance
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Phenotype <br /> mapping key
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<span class="mim-font">
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3q26.32
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<span class="mim-font">
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Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic
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<span class="mim-font">
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602501
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3
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PIK3CA
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171834
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<p>A number sign (#) is used with this entry because some cases of megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) have been found to have somatic mutations in the PIK3CA gene (171834) on chromosome 3q26.</p>
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<p>Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) is characterized by a spectrum of anomalies including primary megalencephaly, prenatal overgrowth, brain and body asymmetry, cutaneous vascular malformations, digital anomalies consisting of syndactyly with or without postaxial polydactyly, connective tissue dysplasia involving the skin, subcutaneous tissue, and joints, and cortical brain malformations, most distinctively polymicrogyria (summary by Mirzaa et al., 2012). This disorder is also known as the macrocephaly-capillary malformation (MCM) syndrome (Conway et al., 2007). Mirzaa et al. (2012) suggested use of the term MCAP rather than MCM to reflect the very large brain size, rather than simply large head size, that characterizes this syndrome, and the importance and high frequency of perisylvian polymicrogyria. </p>
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<p>Moore et al. (1997) described 13 unrelated children with abnormalities of somatic growth, face, brain, and connective tissue including vasculature. They proposed that these children had a distinct disorder, megalencephaly-cutis marmorata telangiectatica congenita (MCMTC), with the features of cutis marmorata, nevus flammeus, cavernous hemangiomas, asymmetric growth pattern, central nervous system malformations, and neurologic abnormalities. See 219250 for a discussion of cutis marmorata telangiectatica congenita (CMTC) without report of the other major findings. </p><p>Clayton-Smith et al. (1997) described 9 additional patients and recognized the macrocephaly-CMTC syndrome as a distinct entity. </p><p>Carcao et al. (1998) described a child, with nonconsanguineous parents of Guyanese ancestry, with cherry red macules, megalencephaly with hemifacial and segmental overgrowth, macrosomia, cutis marmorata telangiectatica congenita of the trunk, and visceral and subcutaneous cavernous hemangiomas. The megalencephaly was accompanied by MRI findings of CNS dysgenesis with protrusion of the cerebellar tonsils through the foramen magnum (Chiari type I; 118420), lumbar syrinx, and hydrops of the optic nerves. The findings in the patient suggest that a visceral hemangioma and cherry red macules in the eye may be findings of MCMTC. The cases reported by Moore et al. (1997) and Carcao et al. (1998) supported the concept of CNS and vascular dysgenesis in MCMTC. </p><p>Vogels et al. (1998) reviewed 4 children with the same association of macrocephaly-body asymmetry-cutis marmorata telangiectatica and cutaneous hemangiomas observed over a period of 20 years. They commented on a distinct craniofacial appearance with macrocephaly and full lips. </p><p>Yano and Watanabe (2001) described 3 cases with features of macrocephaly-cutis marmorata telangiectatica congenita with poor clinical outcomes. All cases showed severe growth failure resulting in a weight below the second percentile before a year of age, 2 cases died suddenly of unknown cause at 33 and 19 months, and a third developed atrial flutter, leading to hypotensive shock during a viral illness at age 13 months. The authors suggested that a distinct clinical subtype of MCMTC may exist, and recommended that patients with this condition presenting with severe failure to thrive be closely monitored for arrhythmia and life-threatening episodes. </p><p>Lapunzina et al. (2004) reported 6 additional patients with MCMTC and reviewed 69 previously reported patients. Based on their findings, they listed the very frequent (observed in more than 75%), frequent (25 to 75%), and less frequent (less than 25%) components of the syndrome. Mode of inheritance was not clear from this analysis. There was a slight preponderance of males (male:female ratio, 41:33). No affected parents or sibs were observed. Increased paternal age was noted in several cases and parental consanguinity in some. </p><p>Giuliano et al. (2004) described 7 patients with MCMTC, including 2 with unusual cerebral manifestations and severe outcomes. One had a complex congenital heart defect and died in the neonatal period; brain MRI revealed generalized cortical dysplasia. The other had an ischemic stroke at age 14; cerebral arteriography showed an abnormal vascular pattern. </p><p>Garavelli et al. (2005) reported 10 patients with MCMTC, all of whom had some structural cerebral abnormalities on MRI, including asymmetric hemimegalencephaly, Chiari type I malformation (70%), enlargement of the lateral ventricles, and an abnormally increased signal of periventricular white matter. </p><p>Conway et al. (2007) reported a longitudinal analysis of neuroimaging findings in 17 patients with macrocephaly-capillary malformation. More than half the patients had cerebellar tonsillar herniation associated with rapid brain growth and progressive crowding of the posterior fossa during infancy. Concurrent findings included ventriculomegaly and dilated dural venous sinuses, reflecting a dynamic process of mechanical compromise in the posterior fossa. The malformation was considered to be distinct from Chiari malformation type I as it appeared to be acquired in at least 4 patients. There was also evidence of abnormal cortical morphogenesis, including focal cortical dysplasia, polymicrogyria, and cerebral and/or cerebellar asymmetric overgrowth. Other findings included a high frequency of cavum septum pellucidum or vergae, thickened corpus callosum, prominent optic nerve sheaths and a single case of venous sinus thrombosis. One patient was found to have a frontal perifalcine mass resembling a meningioma at age 5 years. </p><p>Canham and Holder (2008) described a 14-year-old girl with mild MCMTC who was noted to have 'mottled skin' in infancy that had faded by the time of presentation at 3.5 years of age, at which examination she was noted to have macrocephaly, capillary hemangioma over the upper eyelids, nasal bridge, upper lip, and philtrum, and a faint pigmented area over the lower back. In early childhood, she had been diagnosed with a semantic pragmatic language disorder, although she subsequently entered mainstream school without a statement of special educational needs. At 14 years of age, she developed marked varicose veins around her left knee and was found to have incompetence of the long saphenous vein on Duplex scan, with no evidence of other structural anomalies. Her facial hemangioma had almost entirely resolved. Growth had ceased at menarche 3 years earlier, and although her height and head circumference were above the 99.6th centile, the authors noted that those parameters would likely be within the normal range in adulthood. Her secondary dentition had come in earlier than usual, and her teeth were very large, such that several had to be removed. Canham and Holder (2008) concluded that it is possible to have this condition and function within the normal range or with only minor problems, particularly for children with no structural brain anomaly. </p><p>Gripp et al. (2009) reported 3 unrelated patients with a phenotype consistent with MCM. In the first patient, brain MRI showed striking megalencephaly and polymicrogyria, along with very large ventricles and cerebellar tonsillar herniation filling the cisterna magna. She had a nevus flammeus extending over the forehead, nose, and philtrum, as well as a capillary malformation resembling cutis marmorata over the trunk and extremities. She had mild coarse dysmorphic features, such as low nasal bridge, wide lips, and low-set ears. Other features included ventricular septal defect and a vascular ring formed by a right aortic arch and aberrant left subclavian artery, as well as vesicoureteral reflux. The second child had megalencephaly with mild ventriculomegaly and diffuse bilateral polymicrogyria. Other features included postaxial polysyndactyly of one foot, frontal bossing, depressed nasal bridge, hypertelorism, low-set ears, and mild hemihyperplasia of the right face. Skin findings included a large hemangioma over the left elbow, a facial nevus flammeus that extended from the upper lip to the forehead, and generalized cutis marmorata. The third child had increasing macrocephaly from birth. Brain MRI at age 6 weeks showed large brain size, extensive asymmetric bilateral polymicrogyria, and mildly enlarged lateral ventricles. Repeat brain MRI at age 5 months demonstrated progressive ventricular enlargement and cerebellar tonsillar herniation filling the cisterna magna and crowding the back of the brainstem and upper cervical spinal cord. There was frontal bossing, mildly deep-set eyes, and thickened soft tissue of the cheeks, philtrum and lips. Although there was no syndactyly, polydactyly, or visible capillary malformation, he had mild cutis marmorata, and abdominal ultrasound reportedly showed a vascular anomaly beneath the umbilicus. All children were born premature at 30, 34, and 38 weeks' gestation, respectively. All were less than 12 months of age at the time of the report, and all showed hypotonia with delayed development. None of the parents were related, and there was no family history in any case. Gripp et al. (2009) noted that 2 of the patients had an initial diagnosis of megalencephaly, polymicrogyria-polydactyly hydrocephalus syndrome (MPPH; 603387), a similar syndrome with overlapping features. Gripp et al. (2009) suggested that the 2 disorders may be related or on the same phenotypic spectrum; they proposed the term MPPH-CM to refer to this phenotypic spectrum. </p><p>Davis et al. (2020) reported 11 patients with a molecularly (9 patients) or clinically (2 patients) confirmed diagnosis of MCAP who also had growth hormone (GH) deficiency. The patients, recruited through an observational multicenter study, all had very low or undetectable circulating concentrations of insulin-like growth factor-1 (IGF1; 147440) and insulin-like growth factor-binding protein-3 (IGFBP3; 146732). A drastic decline in linear growth z-scores was noted in the first year of life, but growth stabilized in the low-normal range afterward. Mean age of onset was 3.2 years (range, 1.2-9.2 years). Seven patients underwent GH stimulation testing, and all had insufficient responses. Five patients received GH treatment, which was discontinued in 1 patient after a week due to inconsolability. The other 4 patients continued on GH treatment with substantial increases in linear growth velocity and no reported side effects, including no worsening of macrocephaly or hemihypertrophy. Five of the 11 patients had confirmed hypoglycemia, which preceded the diagnosis of GH deficiency in 4 patients. Other endocrine diagnoses included cryptorchidism in 2 patients and central hypothyroidism, central adrenal insufficiency, type 1 diabetes, and osteoporosis with pathologic fractures in 1 patient each. The authors recommended that children with MCAP and either hypoglycemia or postnatal growth failure be evaluated for GH deficiency. </p>
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<strong>Diagnosis</strong>
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<p>Franceschini et al. (2000) reported 2 patients with features consistent with a diagnosis of MCMTC, only one of whom had typical cutis marmorata when examined at age 4 months. Based on these cases and their review of the literature, the authors suggested that macrocephaly and at least 2 of the main reported findings (i.e., overgrowth, cutis marmorata, angiomata, polydactyly/syndactyly, asymmetry) are necessary for the diagnosis of MCMTC. They also noted the increased risk for development of nonobstructive hydrocephalus in this syndrome. </p><p>Martinez-Glez et al. (2010) reported 13 Spanish patients with MCM and proposed diagnostic criteria. Among their patients, the most frequent features were neuroimaging alterations (100%), macrocephaly (92%), overgrowth (92%), capillary malformations (85%), developmental delay (85%), and asymmetry (62%). Less common features included capillary malformation of the nose, lip and/or philtrum (54%), hydrocephalus (46%), hypotonia (46%), joint laxity (38%), tonsillar herniation/Chiari I (31%), syndactyly of the toes (31%), hemimegalencephaly (31%), polymicrogyria (31%), and frontal bossing (25%). The proposed diagnostic criteria included 3 of 4 major criteria and 2 of 7 minor criteria. Major criteria included macrocephaly, capillary malformation, overgrowth/asymmetry, and neuroimaging alterations. Minor criteria included developmental delay, midline facial capillary malformation, neonatal hypotonia, syndactyly/polydactyly, frontal bossing, connective tissue abnormalities, and hydrocephalus. Genomewide SNP array analysis did not identify any altered gene or region common to all patients. </p><p>Mirzaa et al. (2012) reviewed the phenotypic features of 42 patients with a megalencephalic syndrome in an attempt to clarify and simplify the categorization and diagnosis of these disorders. Statistical analysis of particular features yielded 2 main groups: 21 patients with a vascular malformation consistent with MCAP and 19 with no vascular malformation consistent with MPPH; 2 patients were in an overlap group. Vascular malformations were significantly associated with syndactyly and somatic overgrowth at birth, and lack of vascular malformations was associated with polydactyly. The various features were assigned to 5 major classes of developmental abnormalities. Both MCAP and MPPH had (1) megalencephaly and variable somatic overgrowth (particularly in MCAP); (2) distal limb malformations, syndactyly being more associated with MCAP and polydactyly with MPPH; and (3) similar cortical brain malformations (mainly polymicrogyria). In addition, MCAP included (4) developmental vascular abnormalities and (5) occasional connective tissue dysplasia, such as hyperelasticity or thick skin. MPPH lacks vascular malformations, connective tissue dysplasia, and heterotopia. Based on these findings, Mirzaa et al. (2012) proposed diagnostic criteria for the MCAP and MPPH syndromes, and postulated that the 2 disorders represent different, although overlapping, syndromes that may be caused by different genes involved in the same biologic pathway. </p>
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<strong>Cytogenetics</strong>
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<p>Stoll (2003) reported a patient with MCMTC who carried a de novo translocation t(2;17)(p11;p13). At birth the patient had widespread erythematous violaceous reticulate cutaneous marking, nevus flammeus of the philtrum, syndactyly of third and fourth fingers of the right hand, prominent forehead, upslanting palpebral fissures, flat nasal bridge, and hypotonia. Transfontanellar ultrasound showed mild ventriculomegaly. Motor development was delayed. At 18 months of age CT scan showed cerebral asymmetry and dilated cerebral ventricles; a ventriculoperitoneal shunt was inserted. Right upper and lower limbs were larger than those on the left. Knees, ankles, and small joints of the hands were hypermobile. The patient died suddenly at 8 years of age. </p>
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<strong>Molecular Genetics</strong>
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<p>Riviere et al. (2012) conducted exome sequencing in an individual with MCAP and his parents and performed an analysis of de novo mutations in this trio by including the raw variants that did not meet their initial hard-filtering criteria. Using this approach, they identified a missense change in the PIK3CA gene (G914R; 171834.0011), which encodes the p110-catalytic subunit of class IA PI3K. This mutation was supported by 20 of 177 reads (11%) in the exome sequencing data and was confirmed to be de novo and mosaic by Sanger sequencing and a custom restriction enzyme assay. Riviere et al. (2012) then sequenced the coding exons of PIK3CA in 29 individuals with megalencephaly with no mutations in the AKT3 (611223) or PIK3R2 (603157) genes and identified 14 additional PIK3CA mutations, with mutant allele frequencies ranging from 10 to 50%. Standard variant calling in exomes from 7 additional subjects with MCAP identified a mutation of the PIK3CA gene (C378Y; 171834.0012) that was supported by 68 of 250 reads (27%) in another individual. This mutation showed variable levels of mosaicism depending on the tissue tested. Manual inspection of the Sequence Alignment/Map (SAM) files of the remaining 6 subjects with MCAP of unknown cause using the Integrative Genomics Viewer revealed other candidate mosaic mutations in the PIK3CA gene in all of the 6 affected individuals, with mutations represented by 2 to 15% of the total reads. Sanger sequencing, a custom restriction enzyme assay, or both, confirmed all 6 mutations. Riviere et al. (2012) next performed targeted ultra-deep sequencing (coverage of more than 10,000 reads) of 5 mutation sites in 15 mutation-negative affected individuals, as well as in known mutation carriers and control individuals. This experiment confirmed all previously identified mutations and detected 2 additional low-level mosaic mutations missed by Sanger sequencing. Both were confirmed by a second deep-sequencing experiment and showed mutant allele frequencies ranging from 1 to 8%. Riviere et al. (2012) identified a total of 24 affected individuals with PIK3CA mutations, and all but 3 (LR06-220, LR11-153, and LR11-230) showed evidence of postzygotic mosaicism. In 13 individuals with MCAP, no mutation was found in the PIK3CA gene, the PTEN gene (601728), or 4 other genes encoding subunits of class IA PI3K. </p><p>Lee et al. (2012) performed whole-exome sequencing on brain and peripheral blood DNA from 5 HME cases and identified 3 missense mutations: one in the PIK3CA gene (E545K; 171834.0003), one in the AKT3 gene (E17K; 611223.0003), and one in the MTOR gene (C1483Y; see 616638). The individual with the MTOR gene mutation also carried a diagnosis of hypomelanosis of Ito (300337). Lee et al. (2012) then used a modified single base-extension protocol followed by mass spectrometry analysis to detect somatic mutations at a frequency as low as 3% in genetically heterogeneous samples. Reanalysis of the same DNA samples used for whole-exome sequencing again showed the absence of the mutant allele in blood but its presence in the brain, with similar mutation burden as that detected with Illumina sequencing. These somatic mutations were detected at a frequency of 36.6%, 40.4%, and 8.1% in each brain sample. Using the same technology, Lee et al. (2012) screened for these mutations in 15 other HME cases and identified 3 additional cases carrying the PIK3CA E545K variant, each with a mutation burden of about 30%. One of these individuals had hypertrophic regions in the right hand and foot. </p>
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<strong>Nomenclature</strong>
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</span>
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<p>Toriello and Mulliken (2007) suggested that the name MCMTC should be changed to MCM, for 'macrocephaly-capillary malformation.' The authors argued that the vascular lesions in this disorder are neither cutis marmorata nor cutis marmorata telangiectatica congenita, but are rather a type of capillary malformation in a patchy reticular pattern. Mirzaa et al. (2012) suggested use of the term MCAP rather than MCM to reflect the very large brain size, rather than simply large head size, that characterizes this syndrome, and the importance and high frequency of perisylvian polymicrogyria. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<p />
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</div>
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<ol>
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Canham, N. L. E., Holder, S. E.
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<strong>Macrocephaly-cutis marmorata telangiectatica congenita: a report on the natural history of a mild case.</strong>
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Clin. Dysmorph. 17: 279-281, 2008.
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[Full Text: https://doi.org/10.1097/MCD.0b013e3283136948]
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Carcao, M., Blaser, S. I., Grant, R. M., Weksberg, R., Siegel-Bartelt, J.
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<strong>MRI findings in macrocephaly-cutis marmorata telangiectatica congenita.</strong>
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Am. J. Med. Genet. 76: 165-167, 1998.
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Clayton-Smith, J., Kerr, B., Brunner, H., Tranebjaerg, L., Magee, A., Hennekam, R. C. M., Mueller, R. F., Brueton, L., Super, M., Steen-Johnsen, J., Donnai, D.
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<strong>Macrocephaly with cutis marmorata, haemangioma and syndactyly: a distinctive overgrowth syndrome.</strong>
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Clin. Dysmorph. 6: 291-302, 1997.
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Conway, R. L., Pressman, B. D., Dobyns, W. B., Danielpour, M., Lee, J., Sanchez-Lara, P. A., Butler, M. G., Zackai, E., Campbell, L., Saitta, S. C., Clericuzio, C. L., Milunsky, J. M., Hoyme, H. E., Shieh, J., Moeschler, J. B., Crandall, B., Lauzon, J. L., Viskochil, D. H., Harding, B., Graham, J. M., Jr.
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<strong>Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients.</strong>
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Am. J. Med. Genet. 143A: 2981-3008, 2007.
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[PubMed: 18000912]
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[Full Text: https://doi.org/10.1002/ajmg.a.32040]
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</p>
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</li>
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<p class="mim-text-font">
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Davis, S., Ware, M. A., Zeiger, J., Deardorff, M. A., Grand, K., Grimberg, A., Hsu, S., Kelsey, M., Majidi, S., Matthew, R. P., Napier, M., Nokoff, N., Prasad, C., Riggs, A. C., McKinnon, M. L., Mirzaa, G.
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<strong>Growth hormone deficiency in megalencephaly-capillary malformation syndrome: An association with activating mutations in PIK3CA.</strong>
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Am. J. Med. Genet. 182A: 162-168, 2020.
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[PubMed: 31729162]
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[Full Text: https://doi.org/10.1002/ajmg.a.61403]
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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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Franceschini, P., Licata, D., Di Cara, G., Guala, A., Franceschini, D., Genitori, L.
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<strong>Macrocephaly-cutis marmorata telangiectatica congenita without cutis marmorata?</strong>
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Am. J. Med. Genet. 90: 265-269, 2000.
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[PubMed: 10710221]
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<p class="mim-text-font">
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Garavelli, L., Leask, K., Zanacca, C., Pedori, S., Albertini, G., Della Giustina, E., Croci, G. F., Magnani, C., Banchini, G., Clayton-Smith, J., Bocian, M., Firth, H., Gold, J. A., Hurst, J.
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<strong>MRI and neurological findings in macrocephaly-cutis marmorata telangiectatica congenita syndrome: report of ten cases and review of the literature.</strong>
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Genet. Counsel. 16: 117-128, 2005.
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[PubMed: 16080291]
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<p class="mim-text-font">
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Giuliano, F., David, A., Edery, P., Sigaudy, S., Bonneau, D., Cormier-Daire, V., Philip, N.
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<strong>Macrocephaly-cutis marmorata telangiectatica congenita: seven cases including two with unusual cerebral manifestations.</strong>
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Am. J. Med. Genet. 126A: 99-103, 2004.
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[PubMed: 15039980]
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[Full Text: https://doi.org/10.1002/ajmg.a.20551]
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</li>
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<li>
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<p class="mim-text-font">
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Gripp, K. W., Hopkins, E., Vinkler, C., Lev, D., Malinger, G., Lerman-Sagie, T., Dobyns, W. B.
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<strong>Significant overlap and possible identity of macrocephaly capillary malformation and megalencephaly polymicrogyria-polydactyly hydrocephalus syndromes.</strong>
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Am. J. Med. Genet. 149A: 868-876, 2009.
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[PubMed: 19353582]
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[Full Text: https://doi.org/10.1002/ajmg.a.32732]
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</li>
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<p class="mim-text-font">
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Lapunzina, P., Gairi, A., Delicado, A., Mori, M. A., de Torres, M. L., Goma, A., Navia, M., Lopez Pajares, I.
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<strong>Macrocephaly-cutis marmorata telangiectasia congenita: report of six new patients and a review.</strong>
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Am. J. Med. Genet. 130A: 45-51, 2004.
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[PubMed: 15368495]
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[Full Text: https://doi.org/10.1002/ajmg.a.30235]
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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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Lee, J. H., Huynh, M., Silhavy, J. L., Kim, S., Dixon-Salazar, T., Heiberg, A., Scott, E., Bafna, V., Hill, K. J., Collazo, A., Funari, V., Russ, C., Gabriel, S. B., Mathern, G. W., Gleeson, J. G.
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<strong>De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly.</strong>
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Nature Genet. 44: 941-945, 2012.
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[PubMed: 22729223]
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[Full Text: https://doi.org/10.1038/ng.2329]
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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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Martinez-Glez, V., Romanelli, V., Mori, M. A., Gracia, R., Segovia, M., Gonzalez-Meneses, A., Lopez-Gutierrez, J. C., Gean, E., Martorell, L., Lapunzina, P.
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<strong>Macrocephaly-capillary malformation: analysis of 13 patients and review of the diagnostic criteria.</strong>
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Am. J. Med. Genet. 152A: 3101-3106, 2010.
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[PubMed: 21077203]
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[Full Text: https://doi.org/10.1002/ajmg.a.33514]
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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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Mirzaa, G. M., Conway, R. L., Gripp, K. W., Lerman-Sagie, T., Siegel, D. H., deVries, L. S., Lev, D., Kramer, N., Hopkins, E., Graham, J. M., Jr., Dobyns, W. B.
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<strong>Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.</strong>
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Am. J. Med. Genet. 158A: 269-291, 2012.
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[PubMed: 22228622]
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[Full Text: https://doi.org/10.1002/ajmg.a.34402]
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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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Moore, C. A., Toriello, H. A., Abuelo, D. N., Bull, M. J., Curry, C. J. R., Hall, B. D., Higgins, J. V., Stevens, C. A., Twersky, S., Weksberg, R., Dobys, W. B.
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<strong>Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormality.</strong>
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Am. J. Med. Genet. 70: 67-73, 1997.
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[PubMed: 9129744]
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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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Riviere, J.-B., Mirzaa, G. M., O'Roak, B. J., Beddaoui, M., Alcantara, D., Conway, R. L., St-Onge, J., Schwartzentruber, J. A., Gripp, K. W., Nikkel, S. M., Worthylake, T., Sullivan, C. T., and 29 others.
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<strong>De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.</strong>
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Nature Genet. 44: 934-940, 2012.
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[PubMed: 22729224]
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[Full Text: https://doi.org/10.1038/ng.2331]
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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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Stoll, C.
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<strong>Macrocephaly-cutis marmorata telangiectatica congenita: report of a patient with a translocation.</strong>
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Genet. Counsel. 14: 173-179, 2003.
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[PubMed: 12872811]
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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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Toriello, H. V., Mulliken, J. B.
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<strong>Accurately renaming macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) as macrocephaly-capillary malformation (M-CM).</strong>
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Am. J. Med. Genet. 143A: 3009 only, 2007.
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[PubMed: 17963258]
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[Full Text: https://doi.org/10.1002/ajmg.a.31971]
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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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Vogels, A., Devriendt, K., Legius, E., Decock, P., Marien, J., Hendrickx, G., Fryns, J. P.
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<strong>The macrocephaly-cutis marmorata telangiectatica congenita syndrome: long-term follow-up data in 4 children and adolescents.</strong>
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Genet. Counsel. 9: 245-253, 1998.
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[PubMed: 9894160]
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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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Yano, S., Watanabe, Y.
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<strong>Association of arrhythmia and sudden death in macrocephaly-cutis marmorata telangiectatica congenita syndrome.</strong>
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Am. J. Med. Genet. 102: 149-152, 2001.
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[PubMed: 11477607]
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[Full Text: https://doi.org/10.1002/ajmg.1428]
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</p>
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</ol>
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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<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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Sonja A. Rasmussen - updated : 06/23/2023<br>Nara Sobreira - updated : 11/14/2012<br>Anne M. Stumpf - updated : 4/16/2012<br>Cassandra L. Kniffin - updated : 4/10/2012<br>Marla J. F. O'Neill - updated : 7/6/2010<br>Cassandra L. Kniffin - updated : 10/19/2009<br>Cassandra L. Kniffin - updated : 1/9/2009<br>Marla J. F. O'Neill - updated : 8/31/2005<br>Marla J. F. O'Neill - updated : 8/19/2005<br>Victor A. McKusick - updated : 12/1/2004<br>Victor A. McKusick - updated : 9/12/2003<br>Sonja A. Rasmussen - updated : 8/23/2001<br>Sonja A. Rasmussen - updated : 3/2/2000<br>Victor A. McKusick - updated : 2/10/1999
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