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Entry
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- #613089 - CAPILLARY MALFORMATION OF THE LOWER LIP, LYMPHATIC MALFORMATION OF FACE AND NECK, ASYMMETRY OF FACE AND LIMBS, AND PARTIAL/GENERALIZED OVERGROWTH
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<p>
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<span class="h4">#613089</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/613089"><strong>Clinical Synopsis</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#inheritance">Inheritance</a>
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<a href="#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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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</a>
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<div style="display: table-cell;">Clinical Resources</div>
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<div><a href="https://clinicaltrials.gov/search?cond=CAPILLARY MALFORMATION OF THE LOWER LIP, LYMPHATIC MALFORMATION OF FACE AND NECK, ASYMMETRY OF FACE AND LIMBS, AND PARTIAL/GENERALIZED OVERGROWTH" 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=17810&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.ncbi.nlm.nih.gov/gtr/all/tests/?term=613089[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=168984" 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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<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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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 717765001<br />
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<strong>ORPHA:</strong> 168984<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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613089
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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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CAPILLARY MALFORMATION OF THE LOWER LIP, LYMPHATIC MALFORMATION OF FACE AND NECK, ASYMMETRY OF FACE AND LIMBS, AND PARTIAL/GENERALIZED OVERGROWTH
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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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CLAPO<br />
|
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LOPEZ-GUTIERREZ SYNDROME
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<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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<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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CLAPO 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/613089"> 613089 </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>
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<div>
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<div class="btn-group ">
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<a href="/clinicalSynopsis/613089" 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/613089" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/613089" 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 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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- Asymmetric overgrowth (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1834167&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1834167</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> <span class="mim-feature-ids hidden">[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>
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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> Mouth </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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- Capillary malformation of the lower lip (found in all patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4747618&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4747618</a>]</span><br /> -
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Lymphatic malformation of the tongue <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4747619&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4747619</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> CARDIOVASCULAR </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> Vascular </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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- Varicose veins <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/128060009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">128060009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/399989005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">399989005</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/12856003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">12856003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/I83.90" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">I83.90</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0042345&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0042345</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002619" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002619</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002619" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002619</a>]</span><br /> -
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Venous malformations <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/297222002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">297222002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/234124003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">234124003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2937220&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2937220</a>, <a href="https://bioportal.bioontology.org/search?q=C0265950&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265950</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012721" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012721</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012721" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012721</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> Hands </em>
|
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</span>
|
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</div>
|
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<div style="margin-left: 2em;">
|
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<span class="mim-font">
|
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|
|
- Macrodactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/48449000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">48449000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2117323&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2117323</a>, <a href="https://bioportal.bioontology.org/search?q=C0265552&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0265552</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004099" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004099</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0004099" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0004099</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=d8a2caf72702eb28e3e5133c610c769c" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Macrodactyly-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=d8a2caf72702eb28e3e5133c610c769c" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
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</span>
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</div>
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</div>
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</div>
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</div>
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<div>
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<div>
|
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<span class="h5 mim-font">
|
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<strong> MUSCLE, SOFT TISSUES </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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<span class="mim-font">
|
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|
|
- Lymphatic malformations (lip, oral mucosa, neck and tongue) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4747616&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4747616</a>]</span> <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/234095009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">234095009</a>]</span><br /> -
|
|
Lymphedema <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/30213001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">30213001</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/234097001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">234097001</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0024236&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0024236</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001004</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001004</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> MOLECULAR BASIS </strong>
|
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</span>
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</div>
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<div style="margin-left: 2em;">
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<div>
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<span class="mim-font">
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- Caused by somatic mutation in the phosphatidylinositol 3-kinase, catalytic, alpha polypeptide gene (PIK3CA, <a href="/entry/171834#0002">171834.0002</a>)<br />
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</span>
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</div>
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</div>
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</div>
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<div class="text-right">
|
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
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</div>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div id="mimTextFold" class="collapse in ">
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that CLAPO syndrome is caused by somatic mutation of the PIK3CA (<a href="/entry/171834">171834</a>) gene 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="clinicalFeatures" class="mim-anchor"></a>
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<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Clinical Features</strong>
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</span>
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</h4>
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</div>
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<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p><a href="#1" class="mim-tip-reference" title="Lopez-Gutierrez, J. C., Lapunzina, P. <strong>Capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry and partial/generalized overgrowth (CLAPO): report of six cases of a new syndrome/association.</strong> Am. J. Med. Genet. 146A: 2583-2588, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18798326/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18798326</a>] [<a href="https://doi.org/10.1002/ajmg.a.32517" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18798326">Lopez-Gutierrez and Lapunzina (2008)</a> described 6 unrelated patients with an apparently distinct syndrome of capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry of the face and limbs, and partial/generalized overgrowth. No internal or visceral abnormalities were observed. Development and mental status were normal in all patients. The parents and sibs of the patients were normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18798326" 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="Rodriguez-Laguna, L., Ibanez, K., Gordo, G., Garcia-Minaur, S., Santos-Simarro, F., Agra, N., Vallespin, E., Fernandez-Montano, V. E., Martin-Arenas, R., del Pozo, A., Gonzalez-Pecellin, H., Mena, R., and 10 others. <strong>CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype.</strong> Genet. Med. 20: 882-889, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29446767/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29446767</a>] [<a href="https://doi.org/10.1038/gim.2017.200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29446767">Rodriguez-Laguna et al. (2018)</a> collected longitudinal data on 13 patients with CLAPO, including the 6 originally studied by <a href="#1" class="mim-tip-reference" title="Lopez-Gutierrez, J. C., Lapunzina, P. <strong>Capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry and partial/generalized overgrowth (CLAPO): report of six cases of a new syndrome/association.</strong> Am. J. Med. Genet. 146A: 2583-2588, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18798326/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18798326</a>] [<a href="https://doi.org/10.1002/ajmg.a.32517" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18798326">Lopez-Gutierrez and Lapunzina (2008)</a>, for a total of 70.5 person-years. The mean age at diagnosis was 8.0 years. None of the patients exhibited any psychomotor delay or intellectual deficit. Among these 13 patients, the only only common clinical manifestation was the capillary malformation of the lower lip, which was present in 100%. The capillary malformation of the lower lip was always present in the midline, with a symmetrical distribution, ranging from 2 to 11 cm, with well-defined borders in several patients, and often affecting the portion of the skin under the lip or the intraoral mucosa. The second major clinical feature was the presence of lymphatic malformations, observed in 12 of 13 patients (92%). In 10 patients the lymphatic malformation involved the lip, oral mucosa, neck, and tongue, seen in 5 of 10 with right sided predominance. Another 2 patients had unilateral lymphatic malformations on the lower limbs, one of which was associated with lymphedema. At birth, the tongue had a symmetrical midline combined capillary/lymphatic/venous malformation in 8 of 13 patients with CLAPO, which was mild, well-defined, and affected the tip of the tongue. In 5 of 8 patients, the tongue lesions evolved over time, causing growth of the affected area and severe hemorrhagic events with episodes of acute inflammation. In one patient, a left thigh lymphatic malformation was not noted until 15 years of age. Asymmetry was present in 8 of 13 patients and reflected a direct consequence of the presence of a lymphatic malformation on the face and neck, although in 3 patients there was a true asymmetric overgrowth in the presence of bony hypertrophy. One patient manifested asymmetry due to left limb undergrowth. Another had macrodactyly and overgrowth of the right side of the body, and a third patient had a postnatal increase in the length of the left leg. One patient had a large presacral ganglioneuroma that required resection, and another had severe failure to thrive requiring gastrostomy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=29446767+18798326" 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="Lopez-Gutierrez, J. C., Lapunzina, P. <strong>Capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry and partial/generalized overgrowth (CLAPO): report of six cases of a new syndrome/association.</strong> Am. J. Med. Genet. 146A: 2583-2588, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18798326/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18798326</a>] [<a href="https://doi.org/10.1002/ajmg.a.32517" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18798326">Lopez-Gutierrez and Lapunzina (2008)</a> considered somatic mosaicism a theoretical possibility due to patchy vascular markings of the skin and asymmetric overgrowth. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18798326" 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="Rodriguez-Laguna, L., Ibanez, K., Gordo, G., Garcia-Minaur, S., Santos-Simarro, F., Agra, N., Vallespin, E., Fernandez-Montano, V. E., Martin-Arenas, R., del Pozo, A., Gonzalez-Pecellin, H., Mena, R., and 10 others. <strong>CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype.</strong> Genet. Med. 20: 882-889, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29446767/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29446767</a>] [<a href="https://doi.org/10.1038/gim.2017.200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29446767">Rodriguez-Laguna et al. (2018)</a> screened 20 paired blood and tissue DNA samples from 9 patients of a cohort of 13 patients with CLAPO and identified 5 activating mutations in the PIK3CA gene in affected tissues from 6 of the 9 patients studied. The 13 patients included the 6 patients reported by <a href="#1" class="mim-tip-reference" title="Lopez-Gutierrez, J. C., Lapunzina, P. <strong>Capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry and partial/generalized overgrowth (CLAPO): report of six cases of a new syndrome/association.</strong> Am. J. Med. Genet. 146A: 2583-2588, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18798326/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18798326</a>] [<a href="https://doi.org/10.1002/ajmg.a.32517" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18798326">Lopez-Gutierrez and Lapunzina (2008)</a>. All mutations except 1 (F83S; <a href="/entry/171834#0023">171834.0023</a>) had been previously reported in a vascular/overgrowth disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=29446767+18798326" 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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Lopez-Gutierrez, J. C., Lapunzina, P.
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<strong>Capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry and partial/generalized overgrowth (CLAPO): report of six cases of a new syndrome/association.</strong>
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Am. J. Med. Genet. 146A: 2583-2588, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18798326/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18798326</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18798326" 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.32517" target="_blank">Full Text</a>]
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Rodriguez-Laguna, L., Ibanez, K., Gordo, G., Garcia-Minaur, S., Santos-Simarro, F., Agra, N., Vallespin, E., Fernandez-Montano, V. E., Martin-Arenas, R., del Pozo, A., Gonzalez-Pecellin, H., Mena, R., and 10 others.
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<strong>CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype.</strong>
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Genet. Med. 20: 882-889, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29446767/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29446767</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29446767" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Ada Hamosh - updated : 10/09/2018
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Nara Sobreira : 10/15/2009
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alopez : 10/09/2018
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carol : 10/15/2009
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<strong>#</strong> 613089
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CAPILLARY MALFORMATION OF THE LOWER LIP, LYMPHATIC MALFORMATION OF FACE AND NECK, ASYMMETRY OF FACE AND LIMBS, AND PARTIAL/GENERALIZED OVERGROWTH
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CLAPO<br />
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LOPEZ-GUTIERREZ SYNDROME
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<strong>SNOMEDCT:</strong> 717765001;
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<strong>ORPHA:</strong> 168984;
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3q26.32
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CLAPO syndrome, somatic
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613089
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PIK3CA
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<p>A number sign (#) is used with this entry because of evidence that CLAPO syndrome is caused by somatic mutation of the PIK3CA (171834) gene on chromosome 3q26.</p>
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<p>Lopez-Gutierrez and Lapunzina (2008) described 6 unrelated patients with an apparently distinct syndrome of capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry of the face and limbs, and partial/generalized overgrowth. No internal or visceral abnormalities were observed. Development and mental status were normal in all patients. The parents and sibs of the patients were normal. </p><p>Rodriguez-Laguna et al. (2018) collected longitudinal data on 13 patients with CLAPO, including the 6 originally studied by Lopez-Gutierrez and Lapunzina (2008), for a total of 70.5 person-years. The mean age at diagnosis was 8.0 years. None of the patients exhibited any psychomotor delay or intellectual deficit. Among these 13 patients, the only only common clinical manifestation was the capillary malformation of the lower lip, which was present in 100%. The capillary malformation of the lower lip was always present in the midline, with a symmetrical distribution, ranging from 2 to 11 cm, with well-defined borders in several patients, and often affecting the portion of the skin under the lip or the intraoral mucosa. The second major clinical feature was the presence of lymphatic malformations, observed in 12 of 13 patients (92%). In 10 patients the lymphatic malformation involved the lip, oral mucosa, neck, and tongue, seen in 5 of 10 with right sided predominance. Another 2 patients had unilateral lymphatic malformations on the lower limbs, one of which was associated with lymphedema. At birth, the tongue had a symmetrical midline combined capillary/lymphatic/venous malformation in 8 of 13 patients with CLAPO, which was mild, well-defined, and affected the tip of the tongue. In 5 of 8 patients, the tongue lesions evolved over time, causing growth of the affected area and severe hemorrhagic events with episodes of acute inflammation. In one patient, a left thigh lymphatic malformation was not noted until 15 years of age. Asymmetry was present in 8 of 13 patients and reflected a direct consequence of the presence of a lymphatic malformation on the face and neck, although in 3 patients there was a true asymmetric overgrowth in the presence of bony hypertrophy. One patient manifested asymmetry due to left limb undergrowth. Another had macrodactyly and overgrowth of the right side of the body, and a third patient had a postnatal increase in the length of the left leg. One patient had a large presacral ganglioneuroma that required resection, and another had severe failure to thrive requiring gastrostomy. </p>
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<strong>Inheritance</strong>
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<p>Lopez-Gutierrez and Lapunzina (2008) considered somatic mosaicism a theoretical possibility due to patchy vascular markings of the skin and asymmetric overgrowth. </p>
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<p>Rodriguez-Laguna et al. (2018) screened 20 paired blood and tissue DNA samples from 9 patients of a cohort of 13 patients with CLAPO and identified 5 activating mutations in the PIK3CA gene in affected tissues from 6 of the 9 patients studied. The 13 patients included the 6 patients reported by Lopez-Gutierrez and Lapunzina (2008). All mutations except 1 (F83S; 171834.0023) had been previously reported in a vascular/overgrowth disorder. </p>
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<strong>REFERENCES</strong>
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Lopez-Gutierrez, J. C., Lapunzina, P.
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<strong>Capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry and partial/generalized overgrowth (CLAPO): report of six cases of a new syndrome/association.</strong>
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Am. J. Med. Genet. 146A: 2583-2588, 2008.
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[PubMed: 18798326]
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[Full Text: https://doi.org/10.1002/ajmg.a.32517]
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Rodriguez-Laguna, L., Ibanez, K., Gordo, G., Garcia-Minaur, S., Santos-Simarro, F., Agra, N., Vallespin, E., Fernandez-Montano, V. E., Martin-Arenas, R., del Pozo, A., Gonzalez-Pecellin, H., Mena, R., and 10 others.
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<strong>CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype.</strong>
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Genet. Med. 20: 882-889, 2018.
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[PubMed: 29446767]
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[Full Text: https://doi.org/10.1038/gim.2017.200]
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<span class="mim-text-font">
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Ada Hamosh - updated : 10/09/2018
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Nara Sobreira : 10/15/2009
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alopez : 10/09/2018<br>carol : 10/15/2009
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