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<title>
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Entry
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- #119580 - BLEPHAROCHEILODONTIC SYNDROME 1; BCDS1
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- OMIM
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<span class="h4">#119580</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/phenotypicSeries/PS119580"> <strong>Phenotypic Series</strong> </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="#creationDate"><strong>Creation Date</strong></a>
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<div><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1997" 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/25064224-aad6-4fb0-b6d0-189e3b5ab756/view_documents?source=omim" class="mim-tip-hint" title="A dysmorphology database of multiple malformations; metabolic, teratogenic, chromosomal, and skeletal syndromes; and their images." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'POSSUM', 'domain': 'possum.net.au'})">POSSUM</a></div>
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<div><a href="https://www.alliancegenome.org/disease/DOID:0080345" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="http://www.informatics.jax.org/disease/119580" class="mim-tip-hint" title="Phenotypes, alleles, and disease models from Mouse Genome Informatics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Phenotype', 'domain': 'informatics.jax.org'})">MGI Mouse Phenotype</a></div>
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<div><a href="https://omia.org/OMIA000197/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<a id="title" class="mim-anchor"></a>
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<a id="number" class="mim-anchor"></a>
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 717911008<br />
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<strong>ORPHA:</strong> 1997<br />
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<strong>DO:</strong> 0080345<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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119580
|
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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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BLEPHAROCHEILODONTIC SYNDROME 1; BCDS1
|
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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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<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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BLEPHAROCHEILODONTIC SYNDROME; BCDS<br />
|
|
BCD SYNDROME<br />
|
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CLEFTING, ECTROPION, AND CONICAL TEETH<br />
|
|
ECTROPION, INFERIOR, WITH CLEFT LIP AND/OR PALATE<br />
|
|
ELSCHNIG SYNDROME<br />
|
|
LAGOPHTHALMIA WITH BILATERAL CLEFT LIP AND PALATE
|
|
</span>
|
|
</h4>
|
|
</div>
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</div>
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<div>
|
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<br />
|
|
</div>
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</div>
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|
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<div>
|
|
<a id="phenotypeMap" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/16/582?start=-3&limit=10&highlight=582">
|
|
16q22.1
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Blepharocheilodontic syndrome 1
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/119580"> 119580 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
CDH1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/192090"> 192090 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/119580" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
|
|
<a href="/phenotypicSeries/PS119580" class="btn btn-info" role="button"> Phenotypic Series </a>
|
|
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-info dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimPhenotypicSeriesFold" onclick="ga('send', 'event', 'Unfurl', 'PhenotypicSeries', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/119580" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/119580" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<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>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> HEAD & NECK </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Face </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Flat face <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1853241&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1853241</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012368" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012368</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012368" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012368</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9ba328482ffd2d39f0d1071965725b03" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Face,Flat-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=9ba328482ffd2d39f0d1071965725b03" 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 /> -
|
|
High forehead <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239676&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239676</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000348" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000348</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000348" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000348</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=1ed202dc7ca7d5b2c5e34a787d713dec" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Hairline,High_Anterior-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=1ed202dc7ca7d5b2c5e34a787d713dec" 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 /> -
|
|
Asymmetric face (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/15253005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">15253005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1306710&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1306710</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000324" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000324</a>]</span><br /> -
|
|
High anterior hairline (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3276036&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3276036</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009890" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009890</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009890" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009890</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=1ed202dc7ca7d5b2c5e34a787d713dec" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Hairline,High_Anterior-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=1ed202dc7ca7d5b2c5e34a787d713dec" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Eyes </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hypertelorism <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22006008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22006008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q75.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q75.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/376.41" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">376.41</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020534&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020534</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000316" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000316</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Eyes,Widely_Spaced-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=593a4d488f00bb03351a0ddffaf4ac9a" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})">Elements of Morphology</a>"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
|
|
Ectropion of lower eyelids <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95758006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95758006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0521736&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0521736</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007651" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007651</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0007651" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0007651</a>]</span><br /> -
|
|
Lagophthalmia (incomplete closure of eyelids) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/60735000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">60735000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.20</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/374.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">374.2</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/374.20" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">374.20</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0152226&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0152226</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030001</a>]</span><br /> -
|
|
Megaloblepharon <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4538389&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4538389</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034428" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034428</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0034428" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0034428</a>]</span><br /> -
|
|
Distichiasis (double row of eyelashes) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95339000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95339000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423848&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423848</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008496" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008496</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0009743" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009743</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009743" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009743</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Nose </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Choanal atresia (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204508009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204508009</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q30.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q30.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/748.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">748.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0008297&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0008297</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000453" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000453</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000453" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000453</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Mouth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Cleft lip and/or palate <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3279262&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3279262</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Teeth </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Conical teeth <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29553002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29553002</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1162597008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1162597008</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266037&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266037</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0006342" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0006342</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0000698" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000698</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000698" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000698</a>]</span><br /> -
|
|
Hypodontia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/64969001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">64969001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/K00.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">K00.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020608&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020608</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000668" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000668</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000668" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000668</a>]</span><br /> -
|
|
Delayed dentition (rare) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/5639000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">5639000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0239174&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0239174</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000684" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000684</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000684" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000684</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
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|
|
|
|
|
|
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|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ABDOMEN </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Gastrointestinal </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Imperforate anus (in some patients) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204712000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204712000</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q42.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q42.3</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0003466&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0003466</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002023" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002023</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0002023" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0002023</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKELETAL </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Hands </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Clinodactyly <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/17268007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">17268007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4551485&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4551485</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030084" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030084</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0030084" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0030084</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=6c6553591f42fb5585fec835d3e3bab3" target="_blank" class="small mim-tip-eom" title="<img src="https://elementsofmorphology.nih.gov/images/terms/Clinodactyly-small.jpg"> <br/>Further Information: <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=6c6553591f42fb5585fec835d3e3bab3" 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 /> -
|
|
Syndactyly, cutaneous (in some patients) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1861921&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1861921</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012725" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012725</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0012725" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0012725</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> SKIN, NAILS, & HAIR </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Nails </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Hypoplastic nails <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/11375002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">11375002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0263523&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0263523</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001792" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001792</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0001792" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0001792</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Hair </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Distichiasis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/95339000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">95339000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1263461006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1263461006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5779555&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5779555</a>, <a href="https://bioportal.bioontology.org/search?q=C0423848&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423848</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008496" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008496</a>, <a href="https://hpo.jax.org/app/browse/term/HP:0009743" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009743</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0009743" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0009743</a>]</span><br /> -
|
|
Sparse hair <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/1162675003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">1162675003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C5551005&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C5551005</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008070" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008070</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008070" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008070</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> NEUROLOGIC </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Central Nervous System </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Neural tube defect (uncommon) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253098009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253098009</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0027794&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0027794</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0045005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0045005</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0045005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0045005</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> ENDOCRINE FEATURES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Thyroid hypoplasia or agenesis (uncommon) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C4538383&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C4538383</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
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<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Incomplete penetrance observed in some families<br />
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- Caused by mutation in the cadherin 1 gene (CDH1, <a href="/entry/192090#0024">192090.0024</a>)<br />
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Blepharocheilodontic syndrome
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- <a href="/phenotypicSeries/PS119580">PS119580</a>
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- 2 Entries
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<a href="/entry/617681"> Blepharocheilodontic syndrome 2 </a>
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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<a href="/entry/119580"> Blepharocheilodontic syndrome 1 </a>
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<a href="/entry/119580"> 119580 </a>
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<a href="/entry/192090"> CDH1 </a>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because of evidence that blepharocheilodontic syndrome-1 (BCDS1) is caused by heterozygous mutation in the CDH1 gene (<a href="/entry/192090">192090</a>) on chromosome 16q22.</p><p><strong><em>Genetic Heterogeneity of Blepharocheilodontic Syndrome</em></strong></p><p>
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BCD syndrome-2 (BCDS2; <a href="/entry/617681">617681</a>) is caused by mutation in the CTNND1 gene (<a href="/entry/601045">601045</a>) on chromosome 11q12.</p>
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<p>The blepharocheilodontic syndrome is a rare autosomal dominant disorder characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. An additional rare manifestation is imperforate anus (summary by <a href="#19" class="mim-tip-reference" title="Weaver, K. N., Rutledge, K. D., Grant, J. H., Robin, N. H. <strong>Imperforate anus is a rare associated finding in blepharocheilodontic syndrome.</strong> Am. J. Med. Genet. 152A: 438-440, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20101698/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20101698</a>] [<a href="https://doi.org/10.1002/ajmg.a.33207" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20101698">Weaver et al., 2010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20101698" 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>An association of ectropion of the lower eyelids, hypertelorism, and cleft lip and palate was described by <a href="#3" class="mim-tip-reference" title="Elschnig, A. <strong>Zur Kenntnis der Anomalien der Lidspaltenform.</strong> Klin. Monatsbl. Augenheilkd. 50: 17-30, 1912."None>Elschnig (1912)</a>, although it is not clear that Elschnig recognized the clinical constellation as a distinct entity. <a href="#2" class="mim-tip-reference" title="Allanson, J. E., McGillivray, B. C. <strong>Familial clefting syndrome with ectropion and dental anomaly--without limb anomalies.</strong> Clin. Genet. 27: 426-429, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3995794/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3995794</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1985.tb02288.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3995794">Allanson and McGillivray (1985)</a> reported a family in which many members of 4 generations had a syndrome of cleft lip and/or palate, ectropion of the lower eyelids with ocular hypertelorism, and conical teeth with variable expression consistent with autosomal dominant inheritance. The ectropion suggested Treacher Collins syndrome (<a href="/entry/154400">154400</a>). <a href="#8" class="mim-tip-reference" title="Gorlin, R. J., Pindburg, J. J., Cohen, M. M., Jr. <strong>Syndromes of the Head and Neck.</strong> New York: McGraw-Hill (pub.) 1976."None>Gorlin et al. (1976)</a> noted that Zellweger had observed mother and son with clefting, ectropion, and limb reduction defects, and that about 4 sporadic cases have been reported. <a href="#4" class="mim-tip-reference" title="Falace, P. B., Hall, B. D. <strong>Congenital euryblepharon with ectropion and dental anomaly: an autosomal dominant clefting disorder with marked variability of expression.</strong> Proc. Greenwood Genet. Center 8: 208 only, 1989."None>Falace and Hall (1989)</a> presented a 5-generation kindred in which of 12 affected persons, 8 had abnormal teeth, 4 had euryblepharon (eyelids with abnormally wide lid opening), and 2 had clefts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3995794" 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="#15" class="mim-tip-reference" title="Peters, R. <strong>Angeborener Lagophthalmus in vier Generationen.</strong> Klin. Monatsbl. Augenheilkd. 55: 308-313, 1915."None>Peters (1915)</a> described congenital lagophthalmia in 4 generations. <a href="#16" class="mim-tip-reference" title="Pico, G. <strong>Congenital ectropion and distichiasis: etiologic and hereditary factors: a report of cases and review of the literature.</strong> Am. J. Ophthal. 47: 363-387, 1959.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13627093/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13627093</a>]" pmid="13627093">Pico (1959)</a> reported a family in which 18 members in 3 generations had lagophthalmia, 11 of whom had congenital ectropion, with associated distichiasis in 8. <a href="#11" class="mim-tip-reference" title="Korula, S., Wilson, L., Salamonson, J. <strong>Distinct craniofacial syndrome of lagophthalmia and bilateral cleft lip and palate.</strong> Am. J. Med. Genet. 59: 229-233, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8588591/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8588591</a>] [<a href="https://doi.org/10.1002/ajmg.1320590221" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8588591">Korula et al. (1995)</a> reported several individuals with bilateral cleft lip and palate, lagophthalmia (incomplete closure of the eyelids), megaloblepharon (large eyelids), distichiasis (double row of eyelashes), and ectropion of the lower eyelids. Eight cases, 3 from 1 family, were identified in a cleft palate clinic and all presented with bilateral cleft lip and palate and lagophthalmia. Distichiasis was present in 5 of the 8 cases, and 5 cases had ectropion in various degrees. Dental findings consisted of hypodontia in 5 cases and delayed dentition in 1. Hypoplastic nails and clinodactyly were confined to the 3 familial cases (father, son, and daughter). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=13627093+8588591" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Gorlin, R. J., Zellweger, H., Curtis, M. W., Wiedemann, H.-R., Warburg, M., Majewski, F., Gillessen-Kaesbach, G., Prahl-Andersen, B., Zackai, E. <strong>Blepharo-cheilo-dontic (BCD) syndrome.</strong> Am. J. Med. Genet. 65: 109-112, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8911600/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8911600</a>] [<a href="https://doi.org/10.1002/(SICI)1096-8628(19961016)65:2<109::AID-AJMG5>3.0.CO;2-N" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8911600">Gorlin et al. (1996)</a> reported 2 mother-child pairs and 4 sporadic cases of this syndrome, one of which was first reported by <a href="#17" class="mim-tip-reference" title="Piper, H. F. <strong>Augenarztliche Befunde bei fruhkindlicher Entwicklungsstorung.</strong> Mschr. Kinderheilkd. 105: 170-176, 1957."None>Piper (1957)</a>. Among the patients reported by <a href="#9" class="mim-tip-reference" title="Gorlin, R. J., Zellweger, H., Curtis, M. W., Wiedemann, H.-R., Warburg, M., Majewski, F., Gillessen-Kaesbach, G., Prahl-Andersen, B., Zackai, E. <strong>Blepharo-cheilo-dontic (BCD) syndrome.</strong> Am. J. Med. Genet. 65: 109-112, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8911600/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8911600</a>] [<a href="https://doi.org/10.1002/(SICI)1096-8628(19961016)65:2<109::AID-AJMG5>3.0.CO;2-N" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8911600">Gorlin et al. (1996)</a>, ectropion of the lower lids and bilateral cleft lip/palate were among the most common findings; distichiasis of the upper eyelids was a less common observation. <a href="#9" class="mim-tip-reference" title="Gorlin, R. J., Zellweger, H., Curtis, M. W., Wiedemann, H.-R., Warburg, M., Majewski, F., Gillessen-Kaesbach, G., Prahl-Andersen, B., Zackai, E. <strong>Blepharo-cheilo-dontic (BCD) syndrome.</strong> Am. J. Med. Genet. 65: 109-112, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8911600/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8911600</a>] [<a href="https://doi.org/10.1002/(SICI)1096-8628(19961016)65:2<109::AID-AJMG5>3.0.CO;2-N" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8911600">Gorlin et al. (1996)</a> proposed the term blepharo-cheilo-dontic (BCD) syndrome for this autosomal dominant condition and suggested that affected persons reported by <a href="#11" class="mim-tip-reference" title="Korula, S., Wilson, L., Salamonson, J. <strong>Distinct craniofacial syndrome of lagophthalmia and bilateral cleft lip and palate.</strong> Am. J. Med. Genet. 59: 229-233, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8588591/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8588591</a>] [<a href="https://doi.org/10.1002/ajmg.1320590221" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8588591">Korula et al. (1995)</a> actually had the same syndrome. Similar manifestations were found in a girl described by <a href="#12" class="mim-tip-reference" title="Martinez, R. B., Monasterio, A. L., Pinheiro, M., Freire-Maia, N. <strong>Cleft lip/palate-oligodontia-syndactyly-hair alterations, a new syndrome: review of the conditions combining ectodermal dysplasia and cleft lip/palate.</strong> Am. J. Med. Genet. 27: 23-31, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3037904/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3037904</a>] [<a href="https://doi.org/10.1002/ajmg.1320270104" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3037904">Martinez et al. (1987)</a>, although she also had syndactyly. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8588591+8911600+3037904" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Guion-Almeida, M. L, Rodini, E. S. O., Kokitsu-Nakata, N. M., Bologna-Amantini, D. <strong>Blepharo-cheilo-dontic (BCD) syndrome: report on four new patients.</strong> Am. J. Med. Genet. 76: 133-136, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9511975/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9511975</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19980305)76:2<133::aid-ajmg5>3.0.co;2-u" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9511975">Guion-Almeida et al. (1998)</a> described 4 Brazilian patients with this disorder. Two were sporadic cases and 2 were familial, i.e., a mother and her equally affected son. The patients also showed lagophthalmos, a condition in which the eye cannot be completely closed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9511975" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#18" class="mim-tip-reference" title="Valdez-de la Torre, M. H., Quintana-Garcia, M., Canun, S. <strong>Blepharo-cheilo-dontic (BCD) syndrome in two Mexican patients.</strong> Am. J. Med. Genet. 85: 157-159, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10406669/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10406669</a>] [<a href="https://doi.org/10.1002/(sici)1096-8628(19990716)85:2<157::aid-ajmg10>3.3.co;2-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10406669">Valdez-de la Torre et al. (1999)</a> described 2 unrelated patients with bilateral cleft lip/palate and lagophthalmia. One of these 2 patients had familial cleft lip/palate in 2 generations, probably as a variable expression of an autosomal dominant gene. The other patient also had euryblepharon. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10406669" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Gil da Silva Lopes, V. L., Guion-Almeida, M. L., de Oliveira Rodini, E. S. <strong>Blepharocheilodontic (BCD) syndrome: expanding the phenotype?</strong> Am. J. Med. Genet. 121A: 266-270, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12923869/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12923869</a>] [<a href="https://doi.org/10.1002/ajmg.a.20223" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12923869">Gil da Silva Lopes et al. (2003)</a> identified BCDS in 3 successive generations of a Brazilian family and in a sporadic case, also Brazilian. In addition to the cardinal signs, the sporadic case included hypothyroidism and imperforate anus, which had been previously observed in 1 patient. In the family with multiple cases, male-to-male transition was observed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12923869" 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>Because of phenotypic overlap with EEC syndrome, a form of which (EEC3; <a href="/entry/604292">604292</a>) is caused by mutation in the P63 gene (<a href="/entry/603273">603273</a>), as well as overlap with the AEC syndrome (<a href="/entry/106260">106260</a>), which is caused by mutations in the same gene, <a href="#7" class="mim-tip-reference" title="Gil da Silva Lopes, V. L., Guion-Almeida, M. L., de Oliveira Rodini, E. S. <strong>Blepharocheilodontic (BCD) syndrome: expanding the phenotype?</strong> Am. J. Med. Genet. 121A: 266-270, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12923869/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12923869</a>] [<a href="https://doi.org/10.1002/ajmg.a.20223" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12923869">Gil da Silva Lopes et al. (2003)</a> suggested that mutation in the P63 gene should be sought in BCD syndrome. Some phenotypic overlap was also seen between BCD syndrome and van der Woude syndrome (<a href="/entry/119300">119300</a>), suggesting that the interferon regulatory factor-6 gene (IRF6; <a href="/entry/607119">607119</a>) should be investigated also in BCDS. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12923869" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#13" class="mim-tip-reference" title="Martinhago, C. D., Ramos, E. S. <strong>Blepharo-cheilo-dontic (BCD) syndrome with agenesis of thyroid broadens the phenotype and extends the discussion about the genes. (Letter)</strong> Am. J. Med. Genet. 130A: 437-438, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15389707/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15389707</a>] [<a href="https://doi.org/10.1002/ajmg.a.30285" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15389707">Martinhago and Ramos (2004)</a> reported a Brazilian child with lagophthalmia, ectropion of lower lids, euryblepharon, bilateral cleft lip and palate, and oligodontia with reduced crown formation who was born with agenesis of the thyroid. <a href="#13" class="mim-tip-reference" title="Martinhago, C. D., Ramos, E. S. <strong>Blepharo-cheilo-dontic (BCD) syndrome with agenesis of thyroid broadens the phenotype and extends the discussion about the genes. (Letter)</strong> Am. J. Med. Genet. 130A: 437-438, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15389707/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15389707</a>] [<a href="https://doi.org/10.1002/ajmg.a.30285" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15389707">Martinhago and Ramos (2004)</a> suggested that the phenotype should be broadened to include thyroid disorders. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15389707" 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="#20" class="mim-tip-reference" title="Winship, I., Aftimos, S. <strong>Blepharocheilodontic syndrome or lagophthalmos: a child with overlapping features.</strong> Clin. Dysmorph. 14: 151-153, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15930907/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15930907</a>]" pmid="15930907">Winship and Aftimos (2005)</a> described a 3-year-old boy who had dysmorphic features consistent with blepharocheilodontic syndrome but who also had features previously reported by <a href="#11" class="mim-tip-reference" title="Korula, S., Wilson, L., Salamonson, J. <strong>Distinct craniofacial syndrome of lagophthalmia and bilateral cleft lip and palate.</strong> Am. J. Med. Genet. 59: 229-233, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8588591/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8588591</a>] [<a href="https://doi.org/10.1002/ajmg.1320590221" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8588591">Korula et al. (1995)</a> in cases of lagophthalmia, including hypoplastic nails and a dermoid cyst of the lateral eyebrow. <a href="#20" class="mim-tip-reference" title="Winship, I., Aftimos, S. <strong>Blepharocheilodontic syndrome or lagophthalmos: a child with overlapping features.</strong> Clin. Dysmorph. 14: 151-153, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15930907/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15930907</a>]" pmid="15930907">Winship and Aftimos (2005)</a> stated that the significant clinical overlap in their patient further supported the proposal that lagophthalmia and blepharocheilodontic syndrome represent a continuum of a single syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8588591+15930907" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#19" class="mim-tip-reference" title="Weaver, K. N., Rutledge, K. D., Grant, J. H., Robin, N. H. <strong>Imperforate anus is a rare associated finding in blepharocheilodontic syndrome.</strong> Am. J. Med. Genet. 152A: 438-440, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20101698/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20101698</a>] [<a href="https://doi.org/10.1002/ajmg.a.33207" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20101698">Weaver et al. (2010)</a> studied a 3-generation family segregating autosomal dominant BCDS in which the proband was a 6-week-old girl who was born with unilateral cleft lip and palate (CLP), imperforate anus, and ectropion of the lower eyelids. Her 4-year-old sister had repaired bilateral CLP as well as ectropion of the lower eyelids, eyelid insufficiency, conical teeth, and webbed digits. An older brother had repaired imperforate anus and ocular features of BCDS, and their mother had CLP, ectropion of the lower eyelids, bilateral syndactyly between fingers 3 and 4 and toes 2 and 3, and a history of imperforate anus. The mother reported additional affected family members, including 2 brothers and 2 children of 1 of the brothers, as well as her father and a paternal uncle and aunt. Noting that this was the fourth report of BCDS associated with imperforate anus, <a href="#19" class="mim-tip-reference" title="Weaver, K. N., Rutledge, K. D., Grant, J. H., Robin, N. H. <strong>Imperforate anus is a rare associated finding in blepharocheilodontic syndrome.</strong> Am. J. Med. Genet. 152A: 438-440, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20101698/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20101698</a>] [<a href="https://doi.org/10.1002/ajmg.a.33207" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20101698">Weaver et al. (2010)</a> concluded that imperforate anus should be considered a feature of the BCDS phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20101698" 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="Ababneh, F. K., Al-Swaid, A., Elhag, A., Youssef, T., Alsaif, S. <strong>Blepharo-cheilo-dontic (BCD) syndrome: expanding the phenotype, case report and review of the literature.</strong> Am. J. Med. Genet. 164A: 1525-1529, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24719364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24719364</a>] [<a href="https://doi.org/10.1002/ajmg.a.36465" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24719364">Ababneh et al. (2014)</a> reported a Saudi boy with the common eyelid, lip, and tooth abnormalities of BCD syndrome who also had imperforate anus, thyroid agenesis, and lumbosacral meningomyelocele. The parents were consanguineous, but a comprehensive review of the family failed to reveal similar cases or even rare features of the syndrome, indicating sporadic occurrence. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24719364" 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="#14" class="mim-tip-reference" title="Nishi, E., Masuda, K., Arakawa, M., Kawame, H., Kosho, T., Kitahara, M., Kubota, N., Hidaka, E., Katoh, Y., Shirahige, K., Izumi, K. <strong>Exome sequencing-based identification of mutations in non-syndromic genes among individuals with apparently syndromic features.</strong> Am. J. Med. Genet. 170A: 2889-2894, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27566442/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27566442</a>] [<a href="https://doi.org/10.1002/ajmg.a.37826" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27566442">Nishi et al. (2016)</a> reported a 2-year-old Japanese girl with cleft lip and palate, right choanal atresia, tetralogy of Fallot, absent corpus callosum, and a mass in the frontal region of the cranial base compressing the right optic nerve and causing blindness in the right eye. Tumor resection revealed the mass to be a meningoencephalocele. The patient had facial dysmorphism, including posteriorly rotated ears with overfolded helices, hypertelorism, and upslanted palpebral fissures, as well as cloudy corneas and lumbar vertebral fusion. <a href="#6" class="mim-tip-reference" title="Ghoumid, J., Stichelbout, M., Jourdain, A.-S., Frenois, F., Lejeune-Dumoulin, S., Alex-Cordier, M.-P., Lebrun, M., Guerreschi, P., Duquennoy-Martinot, V., Vinchon, M., Ferri, J., Jung, M., Vicaire, S., Vanlerberghe, C., Escande, F., Petit, F., Manouvrier-Hanu, S. <strong>Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1.</strong> Genet. Med. 19: 1013-1021, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28301459/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28301459</a>] [<a href="https://doi.org/10.1038/gim.2017.11" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28301459">Ghoumid et al. (2017)</a> noted that the photographs provided in the article showed eyelid anomalies consistent with ectropion and euryblepharon, making it possible to retrospectively diagnose BCDS. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=28301459+27566442" 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="#6" class="mim-tip-reference" title="Ghoumid, J., Stichelbout, M., Jourdain, A.-S., Frenois, F., Lejeune-Dumoulin, S., Alex-Cordier, M.-P., Lebrun, M., Guerreschi, P., Duquennoy-Martinot, V., Vinchon, M., Ferri, J., Jung, M., Vicaire, S., Vanlerberghe, C., Escande, F., Petit, F., Manouvrier-Hanu, S. <strong>Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1.</strong> Genet. Med. 19: 1013-1021, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28301459/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28301459</a>] [<a href="https://doi.org/10.1038/gim.2017.11" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28301459">Ghoumid et al. (2017)</a> studied 11 patients from 8 families with 'typical' BCD syndrome, with variable expression severity. All patients had eyelid anomalies, including ectropion, euryblepharon, lagophthalmia, and distichiasis, and all patients exhibited features of ectodermal dysplasia, including hair anomalies, conical teeth, and tooth agenesis. All showed typical dysmorphism, with hypertelorism, flat face, and high forehead, and some had an asymmetric face. CLP was observed in 9 of the 11 patients. Less common but previously reported features included thyroid gland hypoplasia or agenesis in 3 patients, anal atresia in 2, syndactyly in 2, and neural tube defects in 2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28301459" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The blepharocheilodontic syndrome is inherited as an autosomal dominant trait (<a href="#2" class="mim-tip-reference" title="Allanson, J. E., McGillivray, B. C. <strong>Familial clefting syndrome with ectropion and dental anomaly--without limb anomalies.</strong> Clin. Genet. 27: 426-429, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3995794/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3995794</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1985.tb02288.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3995794">Allanson and McGillivray, 1985</a>; <a href="#19" class="mim-tip-reference" title="Weaver, K. N., Rutledge, K. D., Grant, J. H., Robin, N. H. <strong>Imperforate anus is a rare associated finding in blepharocheilodontic syndrome.</strong> Am. J. Med. Genet. 152A: 438-440, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20101698/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20101698</a>] [<a href="https://doi.org/10.1002/ajmg.a.33207" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20101698">Weaver et al., 2010</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=20101698+3995794" 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 whole-exome or candidate gene sequencing in 8 families with BCDS, <a href="#6" class="mim-tip-reference" title="Ghoumid, J., Stichelbout, M., Jourdain, A.-S., Frenois, F., Lejeune-Dumoulin, S., Alex-Cordier, M.-P., Lebrun, M., Guerreschi, P., Duquennoy-Martinot, V., Vinchon, M., Ferri, J., Jung, M., Vicaire, S., Vanlerberghe, C., Escande, F., Petit, F., Manouvrier-Hanu, S. <strong>Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1.</strong> Genet. Med. 19: 1013-1021, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28301459/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28301459</a>] [<a href="https://doi.org/10.1038/gim.2017.11" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28301459">Ghoumid et al. (2017)</a> identified 5 heterozygous mutations in the CDH1 gene (see, e.g., <a href="/entry/192090#0024">192090.0024</a>-<a href="/entry/192090#0026">192090.0026</a>) and 3 in the CTNND1 gene (<a href="/entry/601045#0001">601045.0001</a>-<a href="/entry/601045#0003">601045.0003</a>; see BCDS2 <a href="/entry/617681">617681</a>). In 2 families, the mutations occurred de novo; in 2, the mutations segregated with disease; in 2, the mutations were inherited from an asymptomatic parent, suggesting incomplete penetrance; and in the remaining 2, parental DNA was unavailable. <a href="#6" class="mim-tip-reference" title="Ghoumid, J., Stichelbout, M., Jourdain, A.-S., Frenois, F., Lejeune-Dumoulin, S., Alex-Cordier, M.-P., Lebrun, M., Guerreschi, P., Duquennoy-Martinot, V., Vinchon, M., Ferri, J., Jung, M., Vicaire, S., Vanlerberghe, C., Escande, F., Petit, F., Manouvrier-Hanu, S. <strong>Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1.</strong> Genet. Med. 19: 1013-1021, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28301459/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28301459</a>] [<a href="https://doi.org/10.1038/gim.2017.11" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28301459">Ghoumid et al. (2017)</a> stated that although the series was too small to establish genotype-phenotype correlations, they observed that eyelid anomalies were more severe in patients with CDH1 mutations than in those with CTNND1 mutations. In addition, they noted that a previously reported Japanese girl (<a href="#14" class="mim-tip-reference" title="Nishi, E., Masuda, K., Arakawa, M., Kawame, H., Kosho, T., Kitahara, M., Kubota, N., Hidaka, E., Katoh, Y., Shirahige, K., Izumi, K. <strong>Exome sequencing-based identification of mutations in non-syndromic genes among individuals with apparently syndromic features.</strong> Am. J. Med. Genet. 170A: 2889-2894, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27566442/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27566442</a>] [<a href="https://doi.org/10.1002/ajmg.a.37826" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27566442">Nishi et al., 2016</a>) who had cleft lip and palate, choanal atresia, tetralogy of Fallot, and a neural tube defect, and who upon exome sequencing was found to carry a missense mutation in CDH1 (D676E; <a href="/entry/192090#0027">192090.0027</a>), also exhibited eyelid anomalies characteristic of BCDS. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=28301459+27566442" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Exclusion Studies</em></strong></p><p>
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In 3 families with blepharocheilodontic syndrome, <a href="#5" class="mim-tip-reference" title="Freitas, E. L., Martinhago, C. D., Ramos, E. S., Murray, J. C., Gil-da-Silva-Lopes, V. L. <strong>Preliminary molecular studies on blepharocheilodontic syndrome.</strong> Am. J. Med. Genet. 143A: 2757-2759, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17937431/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17937431</a>] [<a href="https://doi.org/10.1002/ajmg.a.32010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17937431">Freitas et al. (2007)</a> screened 5 candidate genes, including P63 and IRF6, but found no mutations. In the proband of a 3-generation family segregating autosomal dominant BCDS, <a href="#19" class="mim-tip-reference" title="Weaver, K. N., Rutledge, K. D., Grant, J. H., Robin, N. H. <strong>Imperforate anus is a rare associated finding in blepharocheilodontic syndrome.</strong> Am. J. Med. Genet. 152A: 438-440, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20101698/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20101698</a>] [<a href="https://doi.org/10.1002/ajmg.a.33207" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20101698">Weaver et al. (2010)</a> also found no mutations in the P63 and IRF6 genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17937431+20101698" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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Freitas, E. L., Martinhago, C. D., Ramos, E. S., Murray, J. C., Gil-da-Silva-Lopes, V. L.
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<strong>Preliminary molecular studies on blepharocheilodontic syndrome.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17937431/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17937431</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17937431" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Ghoumid, J., Stichelbout, M., Jourdain, A.-S., Frenois, F., Lejeune-Dumoulin, S., Alex-Cordier, M.-P., Lebrun, M., Guerreschi, P., Duquennoy-Martinot, V., Vinchon, M., Ferri, J., Jung, M., Vicaire, S., Vanlerberghe, C., Escande, F., Petit, F., Manouvrier-Hanu, S.
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<strong>Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1.</strong>
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Genet. Med. 19: 1013-1021, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28301459/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28301459</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28301459" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/gim.2017.11" target="_blank">Full Text</a>]
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Gil da Silva Lopes, V. L., Guion-Almeida, M. L., de Oliveira Rodini, E. S.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12923869/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12923869</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12923869" 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.20223" target="_blank">Full Text</a>]
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Gorlin, R. J., Zellweger, H., Curtis, M. W., Wiedemann, H.-R., Warburg, M., Majewski, F., Gillessen-Kaesbach, G., Prahl-Andersen, B., Zackai, E.
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[<a href="https://doi.org/10.1002/(SICI)1096-8628(19961016)65:2<109::AID-AJMG5>3.0.CO;2-N" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/(sici)1096-8628(19980305)76:2<133::aid-ajmg5>3.0.co;2-u" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8588591/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8588591</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8588591" 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.1320590221" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3037904/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3037904</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3037904" 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.1320270104" target="_blank">Full Text</a>]
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Martinhago, C. D., Ramos, E. S.
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<strong>Blepharo-cheilo-dontic (BCD) syndrome with agenesis of thyroid broadens the phenotype and extends the discussion about the genes. (Letter)</strong>
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Am. J. Med. Genet. 130A: 437-438, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15389707/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15389707</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15389707" 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.30285" target="_blank">Full Text</a>]
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Nishi, E., Masuda, K., Arakawa, M., Kawame, H., Kosho, T., Kitahara, M., Kubota, N., Hidaka, E., Katoh, Y., Shirahige, K., Izumi, K.
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<strong>Exome sequencing-based identification of mutations in non-syndromic genes among individuals with apparently syndromic features.</strong>
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Am. J. Med. Genet. 170A: 2889-2894, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27566442/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27566442</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27566442" 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.37826" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="15" class="mim-anchor"></a>
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<a id="Peters1915" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Peters, R.
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<strong>Angeborener Lagophthalmus in vier Generationen.</strong>
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Klin. Monatsbl. Augenheilkd. 55: 308-313, 1915.
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</p>
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</div>
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</li>
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<li>
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<a id="16" class="mim-anchor"></a>
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<a id="Pico1959" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Pico, G.
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<strong>Congenital ectropion and distichiasis: etiologic and hereditary factors: a report of cases and review of the literature.</strong>
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Am. J. Ophthal. 47: 363-387, 1959.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/13627093/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">13627093</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=13627093" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="17" class="mim-anchor"></a>
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<a id="Piper1957" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Piper, H. F.
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<strong>Augenarztliche Befunde bei fruhkindlicher Entwicklungsstorung.</strong>
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Mschr. Kinderheilkd. 105: 170-176, 1957.
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</p>
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</div>
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</li>
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<li>
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<a id="18" class="mim-anchor"></a>
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<a id="Valdez-de la Torre1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Valdez-de la Torre, M. H., Quintana-Garcia, M., Canun, S.
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<strong>Blepharo-cheilo-dontic (BCD) syndrome in two Mexican patients.</strong>
|
|
Am. J. Med. Genet. 85: 157-159, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10406669/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10406669</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10406669" 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/(sici)1096-8628(19990716)85:2<157::aid-ajmg10>3.3.co;2-1" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="19" class="mim-anchor"></a>
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<a id="Weaver2010" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Weaver, K. N., Rutledge, K. D., Grant, J. H., Robin, N. H.
|
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<strong>Imperforate anus is a rare associated finding in blepharocheilodontic syndrome.</strong>
|
|
Am. J. Med. Genet. 152A: 438-440, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20101698/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20101698</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20101698" 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.33207" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="20" class="mim-anchor"></a>
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<a id="Winship2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Winship, I., Aftimos, S.
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<strong>Blepharocheilodontic syndrome or lagophthalmos: a child with overlapping features.</strong>
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Clin. Dysmorph. 14: 151-153, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15930907/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15930907</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15930907" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 09/20/2017
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Carol A. Bocchini - updated : 7/24/2014<br>Marla J. F. O'Neill - updated : 3/21/2013<br>Marla J. F. O'Neill - updated : 8/5/2009<br>Marla J. F. O'Neill - updated : 12/11/2006<br>Marla J. F. O'Neill - updated : 1/4/2005<br>Victor A. McKusick - updated : 2/2/2004<br>Victor A. McKusick - updated : 10/8/2003<br>Victor A. McKusick - updated : 7/20/1999<br>Victor A. McKusick - updated : 3/26/1998<br>Iosif W. Lurie - updated : 1/8/1997
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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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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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 11/07/2019
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 09/22/2017<br>carol : 09/21/2017<br>carol : 09/20/2017<br>carol : 07/24/2014<br>carol : 3/26/2013<br>terry : 3/21/2013<br>terry : 11/16/2010<br>carol : 11/5/2010<br>wwang : 9/2/2009<br>terry : 8/5/2009<br>wwang : 12/12/2006<br>terry : 12/11/2006<br>carol : 1/6/2005<br>terry : 1/4/2005<br>mgross : 3/17/2004<br>terry : 2/2/2004<br>alopez : 10/8/2003<br>jlewis : 8/2/1999<br>terry : 7/20/1999<br>carol : 4/6/1998<br>joanna : 3/26/1998<br>terry : 7/7/1997<br>alopez : 6/26/1997<br>alopez : 5/21/1997<br>alopez : 5/5/1997<br>alopez : 4/21/1997<br>alopez : 4/18/1997<br>mark : 3/11/1997<br>jenny : 3/4/1997<br>jenny : 1/21/1997<br>jenny : 1/8/1997<br>mimadm : 6/25/1994<br>warfield : 3/15/1994<br>carol : 10/21/1993<br>supermim : 3/16/1992<br>supermim : 3/20/1990<br>ddp : 10/26/1989
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</span>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>#</strong> 119580
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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BLEPHAROCHEILODONTIC SYNDROME 1; BCDS1
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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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<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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BLEPHAROCHEILODONTIC SYNDROME; BCDS<br />
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BCD SYNDROME<br />
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CLEFTING, ECTROPION, AND CONICAL TEETH<br />
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ECTROPION, INFERIOR, WITH CLEFT LIP AND/OR PALATE<br />
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ELSCHNIG SYNDROME<br />
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LAGOPHTHALMIA WITH BILATERAL CLEFT LIP AND PALATE
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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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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 717911008;
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<strong>ORPHA:</strong> 1997;
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<strong>DO:</strong> 0080345;
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</span>
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</p>
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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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<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 small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<th>
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Gene/Locus
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</th>
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<th>
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Gene/Locus <br /> MIM number
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td>
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<span class="mim-font">
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16q22.1
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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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Blepharocheilodontic syndrome 1
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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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119580
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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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Autosomal dominant
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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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3
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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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CDH1
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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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192090
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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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<br />
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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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<strong>TEXT</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>A number sign (#) is used with this entry because of evidence that blepharocheilodontic syndrome-1 (BCDS1) is caused by heterozygous mutation in the CDH1 gene (192090) on chromosome 16q22.</p><p><strong><em>Genetic Heterogeneity of Blepharocheilodontic Syndrome</em></strong></p><p>
|
|
BCD syndrome-2 (BCDS2; 617681) is caused by mutation in the CTNND1 gene (601045) on chromosome 11q12.</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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<h4>
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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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<span class="mim-text-font">
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<p>The blepharocheilodontic syndrome is a rare autosomal dominant disorder characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. An additional rare manifestation is imperforate anus (summary by Weaver et al., 2010). </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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<h4>
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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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<span class="mim-text-font">
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<p>An association of ectropion of the lower eyelids, hypertelorism, and cleft lip and palate was described by Elschnig (1912), although it is not clear that Elschnig recognized the clinical constellation as a distinct entity. Allanson and McGillivray (1985) reported a family in which many members of 4 generations had a syndrome of cleft lip and/or palate, ectropion of the lower eyelids with ocular hypertelorism, and conical teeth with variable expression consistent with autosomal dominant inheritance. The ectropion suggested Treacher Collins syndrome (154400). Gorlin et al. (1976) noted that Zellweger had observed mother and son with clefting, ectropion, and limb reduction defects, and that about 4 sporadic cases have been reported. Falace and Hall (1989) presented a 5-generation kindred in which of 12 affected persons, 8 had abnormal teeth, 4 had euryblepharon (eyelids with abnormally wide lid opening), and 2 had clefts. </p><p>Peters (1915) described congenital lagophthalmia in 4 generations. Pico (1959) reported a family in which 18 members in 3 generations had lagophthalmia, 11 of whom had congenital ectropion, with associated distichiasis in 8. Korula et al. (1995) reported several individuals with bilateral cleft lip and palate, lagophthalmia (incomplete closure of the eyelids), megaloblepharon (large eyelids), distichiasis (double row of eyelashes), and ectropion of the lower eyelids. Eight cases, 3 from 1 family, were identified in a cleft palate clinic and all presented with bilateral cleft lip and palate and lagophthalmia. Distichiasis was present in 5 of the 8 cases, and 5 cases had ectropion in various degrees. Dental findings consisted of hypodontia in 5 cases and delayed dentition in 1. Hypoplastic nails and clinodactyly were confined to the 3 familial cases (father, son, and daughter). </p><p>Gorlin et al. (1996) reported 2 mother-child pairs and 4 sporadic cases of this syndrome, one of which was first reported by Piper (1957). Among the patients reported by Gorlin et al. (1996), ectropion of the lower lids and bilateral cleft lip/palate were among the most common findings; distichiasis of the upper eyelids was a less common observation. Gorlin et al. (1996) proposed the term blepharo-cheilo-dontic (BCD) syndrome for this autosomal dominant condition and suggested that affected persons reported by Korula et al. (1995) actually had the same syndrome. Similar manifestations were found in a girl described by Martinez et al. (1987), although she also had syndactyly. </p><p>Guion-Almeida et al. (1998) described 4 Brazilian patients with this disorder. Two were sporadic cases and 2 were familial, i.e., a mother and her equally affected son. The patients also showed lagophthalmos, a condition in which the eye cannot be completely closed. </p><p>Valdez-de la Torre et al. (1999) described 2 unrelated patients with bilateral cleft lip/palate and lagophthalmia. One of these 2 patients had familial cleft lip/palate in 2 generations, probably as a variable expression of an autosomal dominant gene. The other patient also had euryblepharon. </p><p>Gil da Silva Lopes et al. (2003) identified BCDS in 3 successive generations of a Brazilian family and in a sporadic case, also Brazilian. In addition to the cardinal signs, the sporadic case included hypothyroidism and imperforate anus, which had been previously observed in 1 patient. In the family with multiple cases, male-to-male transition was observed. </p><p>Because of phenotypic overlap with EEC syndrome, a form of which (EEC3; 604292) is caused by mutation in the P63 gene (603273), as well as overlap with the AEC syndrome (106260), which is caused by mutations in the same gene, Gil da Silva Lopes et al. (2003) suggested that mutation in the P63 gene should be sought in BCD syndrome. Some phenotypic overlap was also seen between BCD syndrome and van der Woude syndrome (119300), suggesting that the interferon regulatory factor-6 gene (IRF6; 607119) should be investigated also in BCDS. </p><p>Martinhago and Ramos (2004) reported a Brazilian child with lagophthalmia, ectropion of lower lids, euryblepharon, bilateral cleft lip and palate, and oligodontia with reduced crown formation who was born with agenesis of the thyroid. Martinhago and Ramos (2004) suggested that the phenotype should be broadened to include thyroid disorders. </p><p>Winship and Aftimos (2005) described a 3-year-old boy who had dysmorphic features consistent with blepharocheilodontic syndrome but who also had features previously reported by Korula et al. (1995) in cases of lagophthalmia, including hypoplastic nails and a dermoid cyst of the lateral eyebrow. Winship and Aftimos (2005) stated that the significant clinical overlap in their patient further supported the proposal that lagophthalmia and blepharocheilodontic syndrome represent a continuum of a single syndrome. </p><p>Weaver et al. (2010) studied a 3-generation family segregating autosomal dominant BCDS in which the proband was a 6-week-old girl who was born with unilateral cleft lip and palate (CLP), imperforate anus, and ectropion of the lower eyelids. Her 4-year-old sister had repaired bilateral CLP as well as ectropion of the lower eyelids, eyelid insufficiency, conical teeth, and webbed digits. An older brother had repaired imperforate anus and ocular features of BCDS, and their mother had CLP, ectropion of the lower eyelids, bilateral syndactyly between fingers 3 and 4 and toes 2 and 3, and a history of imperforate anus. The mother reported additional affected family members, including 2 brothers and 2 children of 1 of the brothers, as well as her father and a paternal uncle and aunt. Noting that this was the fourth report of BCDS associated with imperforate anus, Weaver et al. (2010) concluded that imperforate anus should be considered a feature of the BCDS phenotype. </p><p>Ababneh et al. (2014) reported a Saudi boy with the common eyelid, lip, and tooth abnormalities of BCD syndrome who also had imperforate anus, thyroid agenesis, and lumbosacral meningomyelocele. The parents were consanguineous, but a comprehensive review of the family failed to reveal similar cases or even rare features of the syndrome, indicating sporadic occurrence. </p><p>Nishi et al. (2016) reported a 2-year-old Japanese girl with cleft lip and palate, right choanal atresia, tetralogy of Fallot, absent corpus callosum, and a mass in the frontal region of the cranial base compressing the right optic nerve and causing blindness in the right eye. Tumor resection revealed the mass to be a meningoencephalocele. The patient had facial dysmorphism, including posteriorly rotated ears with overfolded helices, hypertelorism, and upslanted palpebral fissures, as well as cloudy corneas and lumbar vertebral fusion. Ghoumid et al. (2017) noted that the photographs provided in the article showed eyelid anomalies consistent with ectropion and euryblepharon, making it possible to retrospectively diagnose BCDS. </p><p>Ghoumid et al. (2017) studied 11 patients from 8 families with 'typical' BCD syndrome, with variable expression severity. All patients had eyelid anomalies, including ectropion, euryblepharon, lagophthalmia, and distichiasis, and all patients exhibited features of ectodermal dysplasia, including hair anomalies, conical teeth, and tooth agenesis. All showed typical dysmorphism, with hypertelorism, flat face, and high forehead, and some had an asymmetric face. CLP was observed in 9 of the 11 patients. Less common but previously reported features included thyroid gland hypoplasia or agenesis in 3 patients, anal atresia in 2, syndactyly in 2, and neural tube defects in 2. </p>
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<strong>Inheritance</strong>
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<p>The blepharocheilodontic syndrome is inherited as an autosomal dominant trait (Allanson and McGillivray, 1985; Weaver et al., 2010). </p>
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<strong>Molecular Genetics</strong>
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<p>By whole-exome or candidate gene sequencing in 8 families with BCDS, Ghoumid et al. (2017) identified 5 heterozygous mutations in the CDH1 gene (see, e.g., 192090.0024-192090.0026) and 3 in the CTNND1 gene (601045.0001-601045.0003; see BCDS2 617681). In 2 families, the mutations occurred de novo; in 2, the mutations segregated with disease; in 2, the mutations were inherited from an asymptomatic parent, suggesting incomplete penetrance; and in the remaining 2, parental DNA was unavailable. Ghoumid et al. (2017) stated that although the series was too small to establish genotype-phenotype correlations, they observed that eyelid anomalies were more severe in patients with CDH1 mutations than in those with CTNND1 mutations. In addition, they noted that a previously reported Japanese girl (Nishi et al., 2016) who had cleft lip and palate, choanal atresia, tetralogy of Fallot, and a neural tube defect, and who upon exome sequencing was found to carry a missense mutation in CDH1 (D676E; 192090.0027), also exhibited eyelid anomalies characteristic of BCDS. </p><p><strong><em>Exclusion Studies</em></strong></p><p>
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In 3 families with blepharocheilodontic syndrome, Freitas et al. (2007) screened 5 candidate genes, including P63 and IRF6, but found no mutations. In the proband of a 3-generation family segregating autosomal dominant BCDS, Weaver et al. (2010) also found no mutations in the P63 and IRF6 genes. </p>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<strong>Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1.</strong>
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Gorlin, R. J., Zellweger, H., Curtis, M. W., Wiedemann, H.-R., Warburg, M., Majewski, F., Gillessen-Kaesbach, G., Prahl-Andersen, B., Zackai, E.
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Martinhago, C. D., Ramos, E. S.
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<strong>Blepharo-cheilo-dontic (BCD) syndrome with agenesis of thyroid broadens the phenotype and extends the discussion about the genes. (Letter)</strong>
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Nishi, E., Masuda, K., Arakawa, M., Kawame, H., Kosho, T., Kitahara, M., Kubota, N., Hidaka, E., Katoh, Y., Shirahige, K., Izumi, K.
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<strong>Exome sequencing-based identification of mutations in non-syndromic genes among individuals with apparently syndromic features.</strong>
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Peters, R.
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<strong>Angeborener Lagophthalmus in vier Generationen.</strong>
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Klin. Monatsbl. Augenheilkd. 55: 308-313, 1915.
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Pico, G.
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<strong>Congenital ectropion and distichiasis: etiologic and hereditary factors: a report of cases and review of the literature.</strong>
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<p class="mim-text-font">
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Piper, H. F.
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<strong>Augenarztliche Befunde bei fruhkindlicher Entwicklungsstorung.</strong>
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Mschr. Kinderheilkd. 105: 170-176, 1957.
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Valdez-de la Torre, M. H., Quintana-Garcia, M., Canun, S.
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<strong>Blepharo-cheilo-dontic (BCD) syndrome in two Mexican patients.</strong>
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[PubMed: 10406669]
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<p class="mim-text-font">
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Weaver, K. N., Rutledge, K. D., Grant, J. H., Robin, N. H.
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<strong>Imperforate anus is a rare associated finding in blepharocheilodontic syndrome.</strong>
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Am. J. Med. Genet. 152A: 438-440, 2010.
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[PubMed: 20101698]
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<p class="mim-text-font">
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Winship, I., Aftimos, S.
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<strong>Blepharocheilodontic syndrome or lagophthalmos: a child with overlapping features.</strong>
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Clin. Dysmorph. 14: 151-153, 2005.
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[PubMed: 15930907]
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<span class="text-nowrap mim-text-font">
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Contributors:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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Marla J. F. O'Neill - updated : 09/20/2017<br>Carol A. Bocchini - updated : 7/24/2014<br>Marla J. F. O'Neill - updated : 3/21/2013<br>Marla J. F. O'Neill - updated : 8/5/2009<br>Marla J. F. O'Neill - updated : 12/11/2006<br>Marla J. F. O'Neill - updated : 1/4/2005<br>Victor A. McKusick - updated : 2/2/2004<br>Victor A. McKusick - updated : 10/8/2003<br>Victor A. McKusick - updated : 7/20/1999<br>Victor A. McKusick - updated : 3/26/1998<br>Iosif W. Lurie - updated : 1/8/1997
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Creation Date:
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Victor A. McKusick : 6/4/1986
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Edit History:
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