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<title>
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Entry
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- #606773 - HEMIFACIAL MYOHYPERPLASIA; HFMH
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- OMIM
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<span class="h4">#606773</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/606773"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#clinicalManagement">Clinical Management</a>
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<a href="#pathogenesis">Pathogenesis</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://clinicaltrials.gov/search?cond=(HEMIFACIAL MYOHYPERPLASIA) OR (PIK3CA)" class="mim-tip-hint" title="Clinical Trials" 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=17047&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.diseaseinfosearch.org/x/3279" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=141148" 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/fbfbfbb7-582f-45ef-90e3-40814de3fd58/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 class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 699420006<br />
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<strong>ORPHA:</strong> 141148<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
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<span class="text-danger"><strong>#</strong></span>
|
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606773
|
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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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HEMIFACIAL MYOHYPERPLASIA; HFMH
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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">
|
|
HMH
|
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</span>
|
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</h4>
|
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="phenotypeMap" class="mim-anchor"></a>
|
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<h4>
|
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<span class="mim-font">
|
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<strong>Phenotype-Gene Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
|
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<th>
|
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Phenotype
|
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</th>
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<th>
|
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Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
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Inheritance
|
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</th>
|
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
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<th>
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Gene/Locus
|
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</th>
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<th>
|
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Gene/Locus <br /> MIM number
|
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/3/876?start=-3&limit=10&highlight=876">
|
|
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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Hemifacial myohyperplasia, somatic
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
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<a href="/entry/606773"> 606773 </a>
|
|
</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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</span>
|
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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">
|
|
<a href="/entry/171834"> 171834 </a>
|
|
</span>
|
|
</td>
|
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</tr>
|
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</tbody>
|
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</table>
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</div>
|
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</div>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/606773" class="btn btn-warning" role="button"> Clinical Synopsis </a>
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<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
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<span class="caret"></span>
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<span class="sr-only">Toggle Dropdown</span>
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</button>
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</div>
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<div class="btn-group">
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
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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/606773" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/606773" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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</ul>
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</div>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
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</div>
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<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
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<div class="small" style="margin: 5px">
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> INHERITANCE </strong>
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- 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>
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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> Other </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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- 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 />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
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<span class="h5 mim-font">
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<strong> HEAD & NECK </strong>
|
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<div>
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<span class="h5 mim-font">
|
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<em> Face </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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- Facial hemihyperplasia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/697962004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">697962004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1399354&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1399354</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005323" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005323</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0005323" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0005323</a>]</span><br /> -
|
|
Chin deviation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5936297&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5936297</a>]</span><br /> -
|
|
Chin skin dimpling <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4317152&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4317152</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0010751" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0010751</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> Ears </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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|
|
- Dysmorphic ear, unilateral <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5936299&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5936299</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> Eyes </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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|
|
- Eyebrow ptosis, unilateral <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5936300&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5936300</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246813002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246813002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H57.81" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H57.81</a>]</span><br /> -
|
|
Narrow palpebral fissure <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/370116005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">370116005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2675021&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2675021</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0045025" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0045025</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0045025" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0045025</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> Nose </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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|
|
- Nasal deviation <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249316004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249316004</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2235840&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2235840</a>, <a href="https://bioportal.bioontology.org/search?q=C0456541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0456541</a>]</span><br /> -
|
|
Small nasal vestibule <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5936301&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5936301</a>]</span><br />
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|
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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>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Lip commissure canting <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5936302&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5936302</a>]</span><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
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<strong> SKELETAL </strong>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
|
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<div>
|
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<div>
|
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<span class="h5 mim-font">
|
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<em> Skull </em>
|
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</span>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Chin deviation <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5936297&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5936297</a>]</span><br /> -
|
|
Ipsilateral maxillary and mandibular growth impairment <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5936298&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5936298</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>
|
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</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
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<span class="mim-font">
|
|
|
|
- Muscular hypertrophy (pterygoids, masseter, scalene, and sternocleidomastoid) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5936296&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5936296</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/249829006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">249829006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003712" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003712</a>]</span><br />
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</span>
|
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</div>
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</div>
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</div>
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<div>
|
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<div>
|
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<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </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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|
|
- 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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</span>
|
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</div>
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</div>
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</div>
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<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
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</div>
|
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</div>
|
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</div>
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</div>
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<div>
|
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<br />
|
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</div>
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<div>
|
|
<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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|
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<span class="mim-font">
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
|
<strong>TEXT</strong>
|
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</span>
|
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</span>
|
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</h4>
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<div id="mimTextFold" class="collapse in ">
|
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<span class="mim-text-font">
|
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<p>A number sign (#) is used with this entry because of evidence that hemifacial myohyperplasia (HFMH) is caused by somatic mutation in the PIK3CA gene (<a href="/entry/171834">171834</a>) on chromosome 3q26.</p>
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</span>
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<div>
|
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<br />
|
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</div>
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</div>
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<div>
|
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<a id="description" class="mim-anchor"></a>
|
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
|
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<strong>Description</strong>
|
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</span>
|
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</h4>
|
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>Hemifacial myohyperplasia (HFMH) is a rare cause of facial asymmetry exclusively involving facial muscles (summary by <a href="#1" class="mim-tip-reference" title="Bayard, C., Segna, E., Taverne, M., Fraissenon, A., Hennocq, Q., Periou, B., Zerbib, L., Ladraa, S., Chapelle, C., Hoguin, C., Kaltenbach, S., Villarese, P., and 19 others. <strong>Hemifacial myohyperplasia is due to somatic muscular PIK3CA gain-of-function mutations and responds to pharmacological inhibition.</strong> J. Exp. Med. 220: e20230926, 2023.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/37712948/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">37712948</a>] [<a href="https://doi.org/10.1084/jem.20230926" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="37712948">Bayard et al., 2023</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=37712948" 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="#2" class="mim-tip-reference" title="Lee, S., Sze, R., Murakami, C., Gruss, J., Cunningham, M. <strong>Hemifacial myohyperplasia: description of a new syndrome.</strong> Am. J. Med. Genet. 103: 326-333, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11746014/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11746014</a>]" pmid="11746014">Lee et al. (2001)</a> reported 3 patients with unilateral hyperplasia of the facial muscles with no evidence of hyperplasia of bone or other organ systems. They also identified and reviewed 6 similar cases reported by <a href="#4" class="mim-tip-reference" title="Staffenberg, D. A., McCarthy, J. G., Hollier, L. H., Grayson, B. H., Verdi, G. <strong>Hypertrophy and asymmetry of the facial muscles: a previously unrecognized association.</strong> Ann. Plast. Surg. 40: 533-537, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9600442/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9600442</a>] [<a href="https://doi.org/10.1097/00000637-199805000-00017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9600442">Staffenberg et al. (1998)</a>. All 9 cases had dimpling of the skin of the face secondary to hyperplastic muscle in close proximity to the dermis, pulling the skin away from the surface and resulting in dimpling. In addition, deformations of facial structures secondary to hyperplastic facial muscles, including malar flattening, auricular displacement, nasal deviation, chin deviation, narrowed palpebral fissure, and small nasal vestibule on the affected side were commonly seen. Facial nerve paralysis was also observed. <a href="#2" class="mim-tip-reference" title="Lee, S., Sze, R., Murakami, C., Gruss, J., Cunningham, M. <strong>Hemifacial myohyperplasia: description of a new syndrome.</strong> Am. J. Med. Genet. 103: 326-333, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11746014/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11746014</a>]" pmid="11746014">Lee et al. (2001)</a> suggested that these cases represent a distinct entity and proposed that the syndrome be called hemifacial myohyperplasia. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9600442+11746014" 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="Pereira-Perdomo, D. F., Velez-Forero, J., Prada-Madrid, R. <strong>Hemifacial myohyperplasia sequence.</strong> Am. J. Med. Genet. 152A: 1770-1773, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20583183/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20583183</a>] [<a href="https://doi.org/10.1002/ajmg.a.33428" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20583183">Pereira-Perdomo et al. (2010)</a> reported a Colombian girl, born of unrelated parents, with hemifacial myohyperplasia. She had marked left facial asymmetry with enophthalmos, orbital dystopia, periocular asymmetry, and narrowness of the left palpebral fissure. Other features included upward deviation of the left ala of the nose, dimpling of the skin on the left side of the chin, and downward auricular displacement. Although she had facial paresis of the affected side, facial nerve conduction studies were normal. MRI and CT scan of the face showed increased thickness of the depressor anguli oris, depressor labii inferioris, orbicularis oris, zygomaticus major, buccinator, zygomaticus minor, levator labii superioris alaeque nasi, and nasalis muscles on the left side of her face. Skeletal findings included mild ipsilateral maxillary and sphenoid hypoplasia with reduced size of the bony orbit, middle skull base, and maxillary sinus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20583183" 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="Bayard, C., Segna, E., Taverne, M., Fraissenon, A., Hennocq, Q., Periou, B., Zerbib, L., Ladraa, S., Chapelle, C., Hoguin, C., Kaltenbach, S., Villarese, P., and 19 others. <strong>Hemifacial myohyperplasia is due to somatic muscular PIK3CA gain-of-function mutations and responds to pharmacological inhibition.</strong> J. Exp. Med. 220: e20230926, 2023.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/37712948/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">37712948</a>] [<a href="https://doi.org/10.1084/jem.20230926" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="37712948">Bayard et al. (2023)</a> described 5 children with HFMH, aged 4 to 15 years. All of the patients had chin skin dimpling and a small nasal vestibule, 4 patients had chin deviation, an abnormal ear, and a narrow palpebral fissure, and 3 patients had nasal deviation. MRIs in the patients demonstrated muscular hypertrophy in facial, masticatory, and/or neck muscles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=37712948" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Bayard, C., Segna, E., Taverne, M., Fraissenon, A., Hennocq, Q., Periou, B., Zerbib, L., Ladraa, S., Chapelle, C., Hoguin, C., Kaltenbach, S., Villarese, P., and 19 others. <strong>Hemifacial myohyperplasia is due to somatic muscular PIK3CA gain-of-function mutations and responds to pharmacological inhibition.</strong> J. Exp. Med. 220: e20230926, 2023.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/37712948/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">37712948</a>] [<a href="https://doi.org/10.1084/jem.20230926" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="37712948">Bayard et al. (2023)</a> treated 5 patients with hemifacial myohyperplasia with alpelisib, a PIK3CA inhibitor. The patients had clinically meaningful hemifacial volume reduction with softer tissues within 3 to 4 weeks of treatment. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=37712948" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a review of the possible etiology of HFMH, <a href="#3" class="mim-tip-reference" title="Pereira-Perdomo, D. F., Velez-Forero, J., Prada-Madrid, R. <strong>Hemifacial myohyperplasia sequence.</strong> Am. J. Med. Genet. 152A: 1770-1773, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20583183/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20583183</a>] [<a href="https://doi.org/10.1002/ajmg.a.33428" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20583183">Pereira-Perdomo et al. (2010)</a> suggested that it is a primary disorder of somitomeric myoblasts occurring around the fourth gestational week, when these muscle progenitor cells are located at the cranial somitomeres or branchial arches. There is likely an imbalance between differentiation and proliferation of the myoblasts due to abnormal signaling patterns, resulting in muscle hyperplasia in a select area. This region selectivity likely reflects somatic mosaicism. Bony and nerve abnormalities, when present, are likely secondary to abnormal muscle tone and function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20583183" 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>By genotyping of affected muscle tissue from 5 patients with hemifacial myohyperplasia, <a href="#1" class="mim-tip-reference" title="Bayard, C., Segna, E., Taverne, M., Fraissenon, A., Hennocq, Q., Periou, B., Zerbib, L., Ladraa, S., Chapelle, C., Hoguin, C., Kaltenbach, S., Villarese, P., and 19 others. <strong>Hemifacial myohyperplasia is due to somatic muscular PIK3CA gain-of-function mutations and responds to pharmacological inhibition.</strong> J. Exp. Med. 220: e20230926, 2023.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/37712948/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">37712948</a>] [<a href="https://doi.org/10.1084/jem.20230926" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="37712948">Bayard et al. (2023)</a> identified mosaic mutations in the PIK3CA gene (<a href="/entry/606773">606773</a>). Patients 1 and 5 had mosaicism for a glu545-to-lys mutation (E545K; <a href="/entry/171834#0003">171834.0003</a>), with mutation burdens of 15% and 14%, respectively. Patients 3 and 4 had mosaicism for a glu542-to-lys mutation (E542K; <a href="/entry/171834#0009">171834.0009</a>), with mutation burdens of 12% and 21%, respectively, and patient 2 had mosaicism for a his1047-to-arg mutaton (H1047R; <a href="/entry/171834#0013">171834.0013</a>), with a mutation burden of 25%. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=37712948" 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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Bayard, C., Segna, E., Taverne, M., Fraissenon, A., Hennocq, Q., Periou, B., Zerbib, L., Ladraa, S., Chapelle, C., Hoguin, C., Kaltenbach, S., Villarese, P., and 19 others.
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J. Exp. Med. 220: e20230926, 2023.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/37712948/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">37712948</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=37712948" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Lee, S., Sze, R., Murakami, C., Gruss, J., Cunningham, M.
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<strong>Hemifacial myohyperplasia: description of a new syndrome.</strong>
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Am. J. Med. Genet. 103: 326-333, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11746014/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11746014</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11746014" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Pereira-Perdomo, D. F., Velez-Forero, J., Prada-Madrid, R.
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Am. J. Med. Genet. 152A: 1770-1773, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20583183/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20583183</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20583183" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.33428" target="_blank">Full Text</a>]
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Staffenberg, D. A., McCarthy, J. G., Hollier, L. H., Grayson, B. H., Verdi, G.
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<strong>Hypertrophy and asymmetry of the facial muscles: a previously unrecognized association.</strong>
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Ann. Plast. Surg. 40: 533-537, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9600442/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9600442</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9600442" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Hilary J. Vernon - updated : 02/29/2024
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Sonja A. Rasmussen : 3/21/2002
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carol : 02/29/2024
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carol : 11/12/2010<br>wwang : 11/10/2010<br>ckniffin : 10/28/2010<br>carol : 3/21/2002
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<strong>#</strong> 606773
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HEMIFACIAL MYOHYPERPLASIA; HFMH
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HMH
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<strong>SNOMEDCT:</strong> 699420006;
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<strong>ORPHA:</strong> 141148;
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<strong>Phenotype-Gene Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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Gene/Locus <br /> MIM number
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<span class="mim-font">
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3q26.32
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Hemifacial myohyperplasia, somatic
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606773
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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 of evidence that hemifacial myohyperplasia (HFMH) is caused by somatic mutation in the PIK3CA gene (171834) on chromosome 3q26.</p>
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<strong>Description</strong>
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<p>Hemifacial myohyperplasia (HFMH) is a rare cause of facial asymmetry exclusively involving facial muscles (summary by Bayard et al., 2023). </p>
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<strong>Clinical Features</strong>
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<p>Lee et al. (2001) reported 3 patients with unilateral hyperplasia of the facial muscles with no evidence of hyperplasia of bone or other organ systems. They also identified and reviewed 6 similar cases reported by Staffenberg et al. (1998). All 9 cases had dimpling of the skin of the face secondary to hyperplastic muscle in close proximity to the dermis, pulling the skin away from the surface and resulting in dimpling. In addition, deformations of facial structures secondary to hyperplastic facial muscles, including malar flattening, auricular displacement, nasal deviation, chin deviation, narrowed palpebral fissure, and small nasal vestibule on the affected side were commonly seen. Facial nerve paralysis was also observed. Lee et al. (2001) suggested that these cases represent a distinct entity and proposed that the syndrome be called hemifacial myohyperplasia. </p><p>Pereira-Perdomo et al. (2010) reported a Colombian girl, born of unrelated parents, with hemifacial myohyperplasia. She had marked left facial asymmetry with enophthalmos, orbital dystopia, periocular asymmetry, and narrowness of the left palpebral fissure. Other features included upward deviation of the left ala of the nose, dimpling of the skin on the left side of the chin, and downward auricular displacement. Although she had facial paresis of the affected side, facial nerve conduction studies were normal. MRI and CT scan of the face showed increased thickness of the depressor anguli oris, depressor labii inferioris, orbicularis oris, zygomaticus major, buccinator, zygomaticus minor, levator labii superioris alaeque nasi, and nasalis muscles on the left side of her face. Skeletal findings included mild ipsilateral maxillary and sphenoid hypoplasia with reduced size of the bony orbit, middle skull base, and maxillary sinus. </p><p>Bayard et al. (2023) described 5 children with HFMH, aged 4 to 15 years. All of the patients had chin skin dimpling and a small nasal vestibule, 4 patients had chin deviation, an abnormal ear, and a narrow palpebral fissure, and 3 patients had nasal deviation. MRIs in the patients demonstrated muscular hypertrophy in facial, masticatory, and/or neck muscles. </p>
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<strong>Clinical Management</strong>
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<p>Bayard et al. (2023) treated 5 patients with hemifacial myohyperplasia with alpelisib, a PIK3CA inhibitor. The patients had clinically meaningful hemifacial volume reduction with softer tissues within 3 to 4 weeks of treatment. </p>
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<strong>Pathogenesis</strong>
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<p>In a review of the possible etiology of HFMH, Pereira-Perdomo et al. (2010) suggested that it is a primary disorder of somitomeric myoblasts occurring around the fourth gestational week, when these muscle progenitor cells are located at the cranial somitomeres or branchial arches. There is likely an imbalance between differentiation and proliferation of the myoblasts due to abnormal signaling patterns, resulting in muscle hyperplasia in a select area. This region selectivity likely reflects somatic mosaicism. Bony and nerve abnormalities, when present, are likely secondary to abnormal muscle tone and function. </p>
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<strong>Molecular Genetics</strong>
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<p>By genotyping of affected muscle tissue from 5 patients with hemifacial myohyperplasia, Bayard et al. (2023) identified mosaic mutations in the PIK3CA gene (606773). Patients 1 and 5 had mosaicism for a glu545-to-lys mutation (E545K; 171834.0003), with mutation burdens of 15% and 14%, respectively. Patients 3 and 4 had mosaicism for a glu542-to-lys mutation (E542K; 171834.0009), with mutation burdens of 12% and 21%, respectively, and patient 2 had mosaicism for a his1047-to-arg mutaton (H1047R; 171834.0013), with a mutation burden of 25%. </p>
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<strong>REFERENCES</strong>
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Bayard, C., Segna, E., Taverne, M., Fraissenon, A., Hennocq, Q., Periou, B., Zerbib, L., Ladraa, S., Chapelle, C., Hoguin, C., Kaltenbach, S., Villarese, P., and 19 others.
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<strong>Hemifacial myohyperplasia is due to somatic muscular PIK3CA gain-of-function mutations and responds to pharmacological inhibition.</strong>
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J. Exp. Med. 220: e20230926, 2023.
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[PubMed: 37712948]
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[Full Text: https://doi.org/10.1084/jem.20230926]
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Lee, S., Sze, R., Murakami, C., Gruss, J., Cunningham, M.
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<strong>Hemifacial myohyperplasia: description of a new syndrome.</strong>
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Am. J. Med. Genet. 103: 326-333, 2001.
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[PubMed: 11746014]
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Pereira-Perdomo, D. F., Velez-Forero, J., Prada-Madrid, R.
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<strong>Hemifacial myohyperplasia sequence.</strong>
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Am. J. Med. Genet. 152A: 1770-1773, 2010.
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[PubMed: 20583183]
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[Full Text: https://doi.org/10.1002/ajmg.a.33428]
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Staffenberg, D. A., McCarthy, J. G., Hollier, L. H., Grayson, B. H., Verdi, G.
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<strong>Hypertrophy and asymmetry of the facial muscles: a previously unrecognized association.</strong>
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Ann. Plast. Surg. 40: 533-537, 1998.
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[PubMed: 9600442]
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[Full Text: https://doi.org/10.1097/00000637-199805000-00017]
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Hilary J. Vernon - updated : 02/29/2024<br>Cassandra L. Kniffin - updated : 10/28/2010
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Sonja A. Rasmussen : 3/21/2002
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<span class="mim-text-font">
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carol : 02/29/2024<br>carol : 11/12/2010<br>wwang : 11/10/2010<br>ckniffin : 10/28/2010<br>carol : 3/21/2002
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OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
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To ensure long-term funding for the OMIM project, we have diversified
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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