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Entry
- #110100 - BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES
- OMIM
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<span class="h4">#110100</span>
<br />
<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
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<a href="/clinicalSynopsis/110100"><strong>Clinical Synopsis</strong></a>
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<a href="#clinicalFeatures">Clinical Features</a>
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<a href="#cytogenetics">Cytogenetics</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#inheritance">Inheritance</a>
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<li role="presentation" style="margin-left: 1em">
<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<div><a href="https://clinicaltrials.gov/search?cond=BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
<div><a href="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">&#9658;</span>EuroGentest</div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=238&Typ=Pat" title="Blepharophimosis-ptosis-epicanthus inversus syndrome" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Blepharophimosis-ptosis-ep…&nbsp;</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=28735&Typ=Pat" title="Blepharophimosis-ptosis-epicanthus inversus syndrome type 1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Blepharophimosis-ptosis-ep…&nbsp;</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=28736&Typ=Pat" title="Blepharophimosis-ptosis-epicanthus inversus syndrome type 2" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Blepharophimosis-ptosis-ep…&nbsp;</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1441/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
<div><a href="https://www.diseaseinfosearch.org/x/7828" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
<div><a href="https://medlineplus.gov/genetics/condition/blepharophimosis-ptosis-and-epicanthus-inversus-syndrome" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=110100[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
<div><a href="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">&#9658;</span>Orphanet</div>
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<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=126" title="Blepharophimosis-ptosis-epicanthus inversus syndrome" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Blepharophimosis-ptosis-ep…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=572354" title="Blepharophimosis-ptosis-epicanthus inversus syndrome type 1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Blepharophimosis-ptosis-ep…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=572361" title="Blepharophimosis-ptosis-epicanthus inversus syndrome type 2" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Blepharophimosis-ptosis-ep…</a></div>
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<div><a href="https://www.possumcore.com/nuxeo/nxdoc/default/e868c416-9e69-403b-ae5c-48429aecbaf8/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>
</div>
</div>
</div>
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
<span class="panel-title">
<span class="small">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">&#9658;</div>
&nbsp;
<div style="display: table-cell;">Animal Models</div>
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</span>
</span>
</div>
<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
<div class="panel-body small mim-panel-body">
<div><a href="https://www.alliancegenome.org/disease/DOID:14778" 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>
<div><a href="http://www.informatics.jax.org/disease/110100" 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>
<div><a href="https://omia.org/OMIA000483/" 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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</div>
</div>
</div>
</div>
<span>
<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.">
&nbsp;
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</div>
<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
<div>
<a id="title" class="mim-anchor"></a>
<div>
<a id="number" class="mim-anchor"></a>
<div class="text-right">
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
<strong>SNOMEDCT:</strong> 715391004<br />
<strong>ORPHA:</strong> 126, 572354, 572361<br />
<strong>DO:</strong> 14778<br />
">ICD+</a>
</div>
<div>
<span class="h3">
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
<span class="text-danger"><strong>#</strong></span>
110100
</span>
</span>
</div>
</div>
<div>
<a id="preferredTitle" class="mim-anchor"></a>
<h3>
<span class="mim-font">
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES
</span>
</h3>
</div>
<div>
<br />
</div>
<div>
<a id="includedTitles" class="mim-anchor"></a>
<div>
<p>
<span class="mim-font">
Other entities represented in this entry:
</span>
</p>
</div>
<div>
<span class="h3 mim-font">
BPES, TYPE I, INCLUDED
</span>
</div>
<div>
<span class="h4 mim-font">
BPES WITH OVARIAN FAILURE, INCLUDED<br />
BPES, TYPE II, INCLUDED<br />
BPES WITHOUT OVARIAN FAILURE, INCLUDED<br />
BPES WITH DUANE RETRACTION SYNDROME, INCLUDED
</span>
</div>
</div>
<div>
<br />
</div>
</div>
<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/3/723?start=-3&limit=10&highlight=723">
3q22.3
</a>
</span>
</td>
<td>
<span class="mim-font">
Blepharophimosis, epicanthus inversus, and ptosis, type 1
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/110100"> 110100 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</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">
FOXL2
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605597"> 605597 </a>
</span>
</td>
</tr>
<tr>
<td>
<span class="mim-font">
<a href="/geneMap/3/723?start=-3&limit=10&highlight=723">
3q22.3
</a>
</span>
</td>
<td>
<span class="mim-font">
Blepharophimosis, epicanthus inversus, and ptosis, type 2
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/110100"> 110100 </a>
</span>
</td>
<td>
<span class="mim-font">
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</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">
FOXL2
</span>
</td>
<td>
<span class="mim-font">
<a href="/entry/605597"> 605597 </a>
</span>
</td>
</tr>
</tbody>
</table>
</div>
</div>
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<div class="btn-group ">
<a href="/clinicalSynopsis/110100" 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')">
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&nbsp;
<div class="btn-group">
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PheneGene Graphics <span class="caret"></span>
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<ul class="dropdown-menu" style="width: 17em;">
<li><a href="/graph/linear/110100" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
<li><a href="/graph/radial/110100" 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 /> -
Autosomal recessive (less common) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</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> Head </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Characteristic backward head tilt <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862269&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862269</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Ears </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Simple ears <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/253255002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">253255002</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0431483&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0431483</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0020206" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0020206</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0020206" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0020206</a>]</span><br /> -
Cup-shaped ears <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1845447&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1845447</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000378" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000378</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000378" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000378</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Eyes </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Blepharophimosis <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.52" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.52</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/374.46" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">374.46</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0005744&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0005744</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000581" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000581</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000581" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000581</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=0f0375071b81e81be36302aa011b44dc" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Blepharophimosis-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=0f0375071b81e81be36302aa011b44dc&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Ptosis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/11934000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">11934000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/29696001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">29696001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.409" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.409</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.40</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H02.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H02.4</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/374.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">374.3</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/374.30" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">374.30</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0005745&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0005745</a>, <a href="https://bioportal.bioontology.org/search?q=C0033377&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0033377</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000508</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000508" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000508</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=76abf29563d4adc64d21da86221224b1" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Ptosis-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=76abf29563d4adc64d21da86221224b1&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Telecanthus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/246803005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">246803005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0423113&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0423113</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000506" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000506</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000506" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000506</a>]</span> <a href="https://elementsofmorphology.nih.gov/index.cgi?tid=d87370f552af271a3bb27b2e061542cb" target="_blank" class="small mim-tip-eom" title="&lt;img src=&quot;https://elementsofmorphology.nih.gov/images/terms/Telecanthus-small.jpg&quot;&gt; &lt;br/&gt;Further Information: &lt;a href=&quot;https://elementsofmorphology.nih.gov/index.cgi?tid=d87370f552af271a3bb27b2e061542cb&quot target=&quot;_blank&quot onclick=&quot;gtag(\'event\', \'mim_outbound\', {\'name\': \'EOM\', \'domain\': \'elementsofmorphology.nih.gov\'})&quot;&gt;Elements of Morphology&lt;/a&gt;"><span class="glyphicon glyphicon-user" aria-hidden="true"></span></a><br /> -
Epicanthus inversus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/400956000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">400956000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1303003&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1303003</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000537" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000537</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000537" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000537</a>]</span><br /> -
Pronounced convex arch of eyebrows <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862270&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862270</a>]</span><br /> -
Microphthalmia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/204108000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">204108000</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/61142002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">61142002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q11.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q11.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/743.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.1</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/743.10" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.10</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/743.11" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">743.11</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0026010&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026010</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000568" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000568</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000568" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000568</a>]</span><br /> -
Microcornea <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/26098002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">26098002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q13.4" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q13.4</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0266544&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266544</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000482" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000482</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000482" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000482</a>]</span><br /> -
Strabismus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/22066006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">22066006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.9</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H50.40" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H50.40</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0038379&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0038379</a>, <a href="https://bioportal.bioontology.org/search?q=C2020541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2020541</a>, <a href="https://bioportal.bioontology.org/search?q=C1423541&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1423541</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000486" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000486</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000486" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000486</a>]</span><br /> -
Hypermetropia <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/38101003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">38101003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H52.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H52.0</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/367.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">367.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0020490&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0020490</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000540" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000540</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000540" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000540</a>]</span><br /> -
Nystagmus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/563001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">563001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.0</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/H55.00" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">H55.00</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/379.50" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">379.50</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0028738&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0028738</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000639" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000639</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">
- Flat, broad nasal bridge <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1839764&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1839764</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000431" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000431</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">
- High-arched palate <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/27272007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">27272007</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q38.5" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q38.5</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0240635&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0240635</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000218" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000218</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000218" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000218</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> CHEST </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> Breasts </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Normal breast development <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862268&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862268</a>]</span><br />
</span>
</div>
</div>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<strong> GENITOURINARY </strong>
</span>
</div>
<div style="margin-left: 2em;">
<div>
<div>
<span class="h5 mim-font">
<em> External Genitalia (Female) </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Scant pubic hair <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1832459&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1832459</a>]</span><br />
</span>
</div>
</div>
<div>
<div>
<span class="h5 mim-font">
<em> Internal Genitalia (Female) </em>
</span>
</div>
<div style="margin-left: 2em;">
<span class="mim-font">
- Small uterus <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/289624004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">289624004</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/35850006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">35850006</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/Q51.811" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">Q51.811</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/752.32" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">752.32</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0567041&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0567041</a>, <a href="https://bioportal.bioontology.org/search?q=C0266399&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0266399</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000013" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000013</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000013" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000013</a>]</span><br /> -
Small atrophic ovaries <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862267&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862267</a>]</span><br />
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<strong> SKIN, NAILS, & HAIR </strong>
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<em> Hair </em>
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- Pronounced convex arch of eyebrows <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862270&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862270</a>]</span><br /> -
Scant pubic hair (females) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862271&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862271</a>]</span><br /> -
Scant pubic and axillary hair (females) <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862272&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862272</a>]</span><br />
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<strong> ENDOCRINE FEATURES </strong>
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<div style="margin-left: 2em;">
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- Elevated gonadotropins <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862265&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862265</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000837" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000837</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000837" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000837</a>]</span><br /> -
Low estrogen and progesterone <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1862266&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1862266</a>]</span><br /> -
Amenorrhea <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/14302001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">14302001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N91.2" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N91.2</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/626.0" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">626.0</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C2219717&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C2219717</a>, <a href="https://bioportal.bioontology.org/search?q=C0002453&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0002453</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000141" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000141</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000141" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000141</a>]</span><br /> -
Female infertility <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/6738008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">6738008</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N97" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N97</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/N97.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N97.9</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/628.9" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">628.9</a>, <a href="https://purl.bioontology.org/ontology/ICD9CM/628" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">628</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0021361&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0021361</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008222" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008222</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008222" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008222</a>]</span><br /> -
Menstrual irregularities <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/80182007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">80182007</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0156404&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0156404</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000858" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000858</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000858" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000858</a>]</span><br /> -
Premature ovarian failure <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/373717006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">373717006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/65846009" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">65846009</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/237788002" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">237788002</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/E28.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E28.31</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/E28.3" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E28.3</a>, <a href="https://purl.bioontology.org/ontology/ICD10CM/E28.319" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">E28.319</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/256.31" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">256.31</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0025322&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0025322</a>, <a href="https://bioportal.bioontology.org/search?q=C0085215&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0085215</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008209" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008209</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0008209" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0008209</a>]</span><br />
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<strong> MISCELLANEOUS </strong>
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- Two types - one with premature ovarian failure (BPES type 1) and one without POF (BPES type 2)<br />
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<strong> MOLECULAR BASIS </strong>
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- Caused by mutation in the forkhead transcription factor FOXL2 gene (FOXL2, <a href="/entry/605597#0001">605597.0001</a>)<br />
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<a href="#mimClinicalSynopsisFold" data-toggle="collapse">&#9650;&nbsp;Close</a>
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<strong>TEXT</strong>
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<p>A number sign (#) is used with this entry because blepharophimosis, ptosis, and epicanthus inversus syndrome, either with premature ovarian failure (BPES type I) or without (BPES type II), is caused by heterozygous mutation in the FOXL2 gene (<a href="/entry/605597">605597</a>) on chromosome 3q22. Rare instances of homozygous mutation in the FOXL2 gene have been reported.</p>
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<strong>Description</strong>
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<p>BPES syndrome includes a characteristic eyelid dysplasia, namely, small palpebral fissures (blepharophimosis), drooping eyelids (ptosis), and a tiny skin fold running inward and upward from the lower lid (epicanthus inversus). In type I BPES, the eyelid abnormalities are coinherited with ovarian failure; type II BPES consists of the eyelid defects only (summary by <a href="#9" class="mim-tip-reference" title="Crisponi, L., Deiana, M., Loi, A., Chiappe, F., Uda, M., Amati, P., Bisceglia, L., Zelante, L., Nagaraja, R., Porcu, S., Ristaldi, M. S., Marzella, R., and 10 others. &lt;strong&gt;The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome.&lt;/strong&gt; Nature Genet. 27: 159-166, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11175783/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11175783&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/84781&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11175783">Crisponi et al., 2001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11175783" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Clinical Features</strong>
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<p><a href="#53" class="mim-tip-reference" title="Vignes, (NI). &lt;strong&gt;Epicanthus hereditaire.&lt;/strong&gt; Rev. Gen. Ophthal. 8: 438, 1889."None>Vignes (1889)</a> probably first described this entity, a dysplasia of the eyelids. In addition to small palpebral fissures, features include epicanthus inversus (fold curving in the mediolateral direction, inferior to the inner canthus), low nasal bridge, and ptosis of the eyelids (<a href="#43" class="mim-tip-reference" title="Sacrez, R., Francfort, J., Juif, J. G., de Grouchy, J. &lt;strong&gt;Le blepharophimosis complique familial: etude des membres de la famille Ble.&lt;/strong&gt; Ann. Pediat. (Paris) 10: 493-501, 1963.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14095147/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;14095147&lt;/a&gt;]" pmid="14095147">Sacrez et al., 1963</a>; <a href="#27" class="mim-tip-reference" title="Johnson, C. C. &lt;strong&gt;Surgical repair of the syndrome of epicanthus inversus, blepharophimosis and ptosis.&lt;/strong&gt; Arch. Ophthal. 71: 510-516, 1964.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14109036/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;14109036&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archopht.1964.00970010526015&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="14109036">Johnson, 1964</a>; <a href="#48" class="mim-tip-reference" title="Smith, D. W. &lt;strong&gt;Recognizable Patterns of Human Malformation. Genetic, Embryologic, and Clinical Aspects.&lt;/strong&gt; Philadelphia: W. B. Saunders (pub.) 1970. Pp. 114-115."None>Smith, 1970</a>). The condition should be considered distinct from congenital ptosis (<a href="/entry/178300">178300</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=14095147+14109036" 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="#38" class="mim-tip-reference" title="Owens, N., Hadley, R. C., Kloepfer, H. W. &lt;strong&gt;Hereditary blepharophimosis, ptosis and epicanthus inversus.&lt;/strong&gt; J. Int. Coll. Surg. 33: 558-574, 1960.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14429566/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;14429566&lt;/a&gt;]" pmid="14429566">Owens et al. (1960)</a> updated the pedigree of a family that was first reported by <a href="#14" class="mim-tip-reference" title="Dimitry, T. J. &lt;strong&gt;Hereditary ptosis.&lt;/strong&gt; Am. J. Ophthal. 4: 655-658, 1921."None>Dimitry (1921)</a>, which had affected members in 6 generations. The patients had the classic syndrome triad of blepharophimosis, ptosis, and epicanthus inversus. <a href="#42" class="mim-tip-reference" title="Raviotta, J. J. &lt;strong&gt;Personal Communication.&lt;/strong&gt; New Orleans, La. 1971."None>Raviotta (1971)</a>, a physician who is an affected member of the pedigree studied by <a href="#38" class="mim-tip-reference" title="Owens, N., Hadley, R. C., Kloepfer, H. W. &lt;strong&gt;Hereditary blepharophimosis, ptosis and epicanthus inversus.&lt;/strong&gt; J. Int. Coll. Surg. 33: 558-574, 1960.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14429566/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;14429566&lt;/a&gt;]" pmid="14429566">Owens et al. (1960)</a>, provided a first-hand description. <a href="#48" class="mim-tip-reference" title="Smith, D. W. &lt;strong&gt;Recognizable Patterns of Human Malformation. Genetic, Embryologic, and Clinical Aspects.&lt;/strong&gt; Philadelphia: W. B. Saunders (pub.) 1970. Pp. 114-115."None>Smith (1970)</a> described affected mother and daughter. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14429566" 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="#34" class="mim-tip-reference" title="Moraine, C., Titeca, C., Delplace, M.-P., Grenier, B., Lenoel, Y., Ribadeau-Dumas, J. L. &lt;strong&gt;Blepharophimosis familial et sterilite feminine: pleiotropisme ou genes lies?&lt;/strong&gt; J. Genet. Hum. 24 (suppl.): 125-132, 1976.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1025261/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1025261&lt;/a&gt;]" pmid="1025261">Moraine et al. (1976)</a> suggested that female infertility is a pleiotropic effect of the gene. <a href="#52" class="mim-tip-reference" title="Townes, P. L., Muechler, E. K. &lt;strong&gt;Blepharophimosis, ptosis, epicanthus inversus and primary amenorrhoea.&lt;/strong&gt; Arch. Ophthal. 97: 1664-1666, 1979.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/475637/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;475637&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1001/archopht.1979.01020020232010&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="475637">Townes and Muechler (1979)</a> reported a family in which all affected females had primary ovarian failure. They had a normal female karyotype and normal breast development; pubic and axillary hair was scant, but in a normal female distribution. Laparoscopy showed a small uterus and small atrophic ovaries. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=475637+1025261" 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="#58" class="mim-tip-reference" title="Zlotogora, J., Sagi, M., Cohen, T. &lt;strong&gt;The blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two types.&lt;/strong&gt; Am. J. Hum. Genet. 35: 1020-1027, 1983.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6613996/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6613996&lt;/a&gt;]" pmid="6613996">Zlotogora et al. (1983)</a> suggested that there are 2 forms of BPES: type I with infertility of affected females and type II with transmission by both males and females. The infertility is inherited as an autosomal dominant sex-limited trait. <a href="#28" class="mim-tip-reference" title="Jones, C. A., Collin, J. R. O. &lt;strong&gt;Blepharophimosis and its association with female infertility.&lt;/strong&gt; Brit. J. Ophthal. 68: 533-534, 1984.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6743620/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6743620&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/bjo.68.8.533&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="6743620">Jones and Collin (1984)</a> reviewed 37 known cases; of the 6 females of child-bearing age, 1 had primary amenorrhea with raised gonadotropins and low estrogen and progesterone. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6743620+6613996" 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="#37" class="mim-tip-reference" title="Oley, C., Baraitser, M. &lt;strong&gt;Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome).&lt;/strong&gt; J. Med. Genet. 25: 47-51, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3270326/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3270326&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.25.1.47&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3270326">Oley and Baraitser (1988)</a> provided an illustrated review of BPES. <a href="#17" class="mim-tip-reference" title="Fraser, I. S., Shearman, R. P., Smith, A., Russell, P. &lt;strong&gt;An association between blepharophimosis, resistant ovary syndrome and true premature menopause.&lt;/strong&gt; Fertil. Steril. 50: 747-751, 1988.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3141218/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3141218&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0015-0282(16)60309-6&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3141218">Fraser et al. (1988)</a> and <a href="#47" class="mim-tip-reference" title="Smith, A., Fraser, I. S., Shearman, R. P., Russell, P. &lt;strong&gt;Blepharophimosis plus ovarian failure: a likely candidate for a contiguous gene syndrome.&lt;/strong&gt; J. Med. Genet. 26: 434-438, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2746615/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2746615&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.26.7.434&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2746615">Smith et al. (1989)</a> described 4 women from 3 families with blepharophimosis, epicanthus inversus, and ptosis who had premature ovarian failure. Two were sisters; they had another affected sister who was not investigated. Two of the 3 families had multiple affected members. <a href="#47" class="mim-tip-reference" title="Smith, A., Fraser, I. S., Shearman, R. P., Russell, P. &lt;strong&gt;Blepharophimosis plus ovarian failure: a likely candidate for a contiguous gene syndrome.&lt;/strong&gt; J. Med. Genet. 26: 434-438, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2746615/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2746615&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.26.7.434&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2746615">Smith et al. (1989)</a> suggested that these cases, type I in the classification of <a href="#58" class="mim-tip-reference" title="Zlotogora, J., Sagi, M., Cohen, T. &lt;strong&gt;The blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two types.&lt;/strong&gt; Am. J. Hum. Genet. 35: 1020-1027, 1983.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6613996/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6613996&lt;/a&gt;]" pmid="6613996">Zlotogora et al. (1983)</a>, represented a 'contiguous gene syndrome' (<a href="#44" class="mim-tip-reference" title="Schmickel, R. D. &lt;strong&gt;Contiguous gene syndromes: a component of recognizable syndromes.&lt;/strong&gt; J. Pediat. 109: 231-241, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3016222/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3016222&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1016/s0022-3476(86)80377-8&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3016222">Schmickel, 1986</a>) with a combination of blepharophimosis and familial precocious ovarian failure. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6613996+2746615+3016222+3141218+3270326" 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="#50" class="mim-tip-reference" title="Temple, I. K., Baraitser, M. &lt;strong&gt;Pitfalls in counselling of the blepharophimosis, ptosis, epicanthus inversus syndrome (BPES).&lt;/strong&gt; J. Med. Genet. 26: 517-519, 1989.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2769724/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2769724&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.26.8.517&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2769724">Temple and Baraitser (1989)</a> reported a family in which an uncle and nephew were clearly affected. The carrier mother had no abnormality as an adult, but photographs of her as a child showed unilateral minimal ptosis without epicanthus inversus. <a href="#16" class="mim-tip-reference" title="Finley, W. H., Callahan, A., Thompson, J. N. &lt;strong&gt;Parental age in the blepharophimosis, ptosis, epicanthus inversus, telecanthus complex.&lt;/strong&gt; Am. J. Med. Genet. 36: 414-417, 1990.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/2389797/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;2389797&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320360409&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="2389797">Finley et al. (1990)</a> studied 14 sporadic cases of this syndrome (which they abbreviated BPEI) and found an apparent maternal age effect, but no paternal age effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2769724+2389797" 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="#39" class="mim-tip-reference" title="Panidis, D., Rousso, D., Vavilis, D., Skiadopoulos, S., Kalogeropoulos, A. &lt;strong&gt;Familial blepharophimosis with ovarian dysfunction.&lt;/strong&gt; Hum. Reprod. 9: 2034-2037, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7868670/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7868670&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/oxfordjournals.humrep.a138389&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7868670">Panidis et al. (1994)</a> described blepharophimosis in 2 sisters, a brother, and their father. The elder sister presented initially with 'resistant ovary syndrome' and thereafter true premature menopause, while the younger sister presented with resistant ovary syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7868670" 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="Cunniff, C., Curtis, M., Hassed, S. J., Hoyme, H. E. &lt;strong&gt;Blepharophimosis: a causally heterogeneous malformation frequently associated with developmental disabilities.&lt;/strong&gt; Am. J. Med. Genet. 75: 52-54, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9450857/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9450857&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/(sici)1096-8628(19980106)75:1&lt;52::aid-ajmg11&gt;3.0.co;2-r&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9450857">Cunniff et al. (1998)</a> reported 22 individuals referred for genetic evaluation because of blepharophimosis. The blepharophimosis syndrome was present in 14 of the 22, and was familial in 5, sporadic in 9. The other 8 children had a malformation syndrome other than the blepharophimosis syndrome. All 8 were mentally retarded or developmentally delayed. Two of the 8 had recognized disorders, branchiootorenal syndrome (<a href="/entry/113650">113650</a>) in one and a ring chromosome 4 in the other; the remaining 6 had unrecognized malformation syndromes, each distinctive from the others. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9450857" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="cytogenetics" class="mim-anchor"></a>
<h4 href="#mimCytogeneticsFold" id="mimCytogeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
<span id="mimCytogeneticsToggleTriangle" class="small mimTextToggleTriangle">&#9660;</span>
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<strong>Cytogenetics</strong>
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<p><a href="#21" class="mim-tip-reference" title="Fukushima, Y., Wakui, K., Nishida, T., Ueoka, Y. &lt;strong&gt;Blepharophymosis (sic) syndrome and de novo balanced autosomal translocation [46,XY,t(3;4)(q23;p15.2)]: possible localization of blepharophymosis (sic) syndrome to 3q23. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 47: A29, 1990."None>Fukushima et al. (1990)</a> reported a newborn infant with BPES and a de novo balanced 3q23;4p15 reciprocal translocation. In a father and son with typical BPES, <a href="#13" class="mim-tip-reference" title="de Die-Smulders, C. E. M., Engelen, J. J. M., Donk, J. M., Fryns, J. P. &lt;strong&gt;Further evidence for the location of the BPES gene at 3q2. (Letter)&lt;/strong&gt; J. Med. Genet. 28: 725, 1991.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1941972/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1941972&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.28.10.725&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1941972">de Die-Smulders et al. (1991)</a> found an apparently balanced translocation, t(3;11)(q21;q23). Since blepharophimosis, ptosis, and microphthalmia are consistent features in patients with an interstitial deletion of band 3q2 (<a href="#2" class="mim-tip-reference" title="Alvarado, M., Bocian, M., Walker, A. P. &lt;strong&gt;Interstitial deletion of the long arm of chromosome 3: case report, review, and definition of a phenotype.&lt;/strong&gt; Am. J. Med. Genet. 27: 781-786, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3122568/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3122568&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320270406&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3122568">Alvarado et al., 1987</a>), the BPES gene was likely to be located at 3q2. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1941972+3122568" 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="#56" class="mim-tip-reference" title="Williamson, R. A., Donlan, M. A., Dolan, C. R., Thuline, H. C., Harrison, M. T., Hall, J. G. &lt;strong&gt;Familial insertional translocation of a portion of 3q into 11q resulting in duplication and deletion of region 3q22.1-q24 in different offspring.&lt;/strong&gt; Am. J. Med. Genet. 9: 105-111, 1981.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7258223/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7258223&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320090204&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7258223">Williamson et al. (1981)</a> described an 8-year-old boy with marked blepharophimosis, ptosis, sad fixed face, joint contractures, and several other anomalies associated with a del(3)(q22.1-q24), suggestive of Schwartz-Jampel syndrome (<a href="/entry/255800">255800</a>). <a href="#20" class="mim-tip-reference" title="Fujita, H., Meng, J., Kawamura, M., Tozuka, N., Ishii, F., Tanaka, N. &lt;strong&gt;Boy with a chromosome del(3)(q12q23) and blepharophimosis syndrome.&lt;/strong&gt; Am. J. Med. Genet. 44: 434-436, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1442882/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1442882&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320440409&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1442882">Fujita et al. (1992)</a> reported a 6-year-old boy with de novo 46,XY,del(3)(q12q23) and bilateral blepharophimosis, ptosis, epicanthus inversus, as well as multiple other anomalies, including joint contractures and a fixed facial appearance. However, in both patients, normal EMG findings and normal skeletal films excluded the diagnosis of Schwartz-Jampel syndrome. <a href="#20" class="mim-tip-reference" title="Fujita, H., Meng, J., Kawamura, M., Tozuka, N., Ishii, F., Tanaka, N. &lt;strong&gt;Boy with a chromosome del(3)(q12q23) and blepharophimosis syndrome.&lt;/strong&gt; Am. J. Med. Genet. 44: 434-436, 1992.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/1442882/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;1442882&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320440409&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="1442882">Fujita et al. (1992)</a> suggested that the blepharophimosis sequence in these patients may represent a contiguous gene syndrome. Other relevant cases had been reported by <a href="#33" class="mim-tip-reference" title="Martsolf, J. T., Ray, M. &lt;strong&gt;Interstitial deletion of the long arm of chromosome 3.&lt;/strong&gt; Ann. Genet. 26: 98-99, 1983.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6604494/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6604494&lt;/a&gt;]" pmid="6604494">Martsolf and Ray (1983)</a>, <a href="#1" class="mim-tip-reference" title="Al-Awadi, S. A., Naguib, K. K., Farag, T. I., Teebi, A. S., Cuschieri, A., Al-Othman, S. A., Sundareshan, T. S. &lt;strong&gt;Complex translocation involving chromosomes Y, 1, and 3 resulting in deletion of segment 3q23-q25.&lt;/strong&gt; J. Med. Genet. 23: 91-92, 1986.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3950944/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3950944&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.23.1.91&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3950944">Al-Awadi et al. (1986)</a>, and <a href="#36" class="mim-tip-reference" title="Okada, N., Hasegawa, T., Osawa, M., Fukuyama, Y. &lt;strong&gt;A case of de novo interstitial deletion 3q.&lt;/strong&gt; J. Med. Genet. 24: 305-308, 1987.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/3585947/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;3585947&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.24.5.305&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="3585947">Okada et al. (1987)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3950944+1442882+7258223+3585947+6604494" 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="#25" class="mim-tip-reference" title="Jewett, T., Rao, P. N., Weaver, R. G., Stewart, W., Thomas, I. T., Pettenati, M. J. &lt;strong&gt;Blepharophimosis syndrome (BPES) associated with del 3q22: gene assignment to the interface of band 3q22-q23. (Abstract)&lt;/strong&gt; Am. J. Hum. Genet. 51 (suppl.): A81, 1992."None>Jewett et al. (1992)</a> reported a child with classic features of BPES with developmental delay and an interstitial deletion of a single band within 3q: del(3)(q21.3-q22.3). <a href="#11" class="mim-tip-reference" title="de Almeida, J. C., Llerena, J. C., Jr., Goncalves Neto, J. B., Jung, M., Martins, R. R. &lt;strong&gt;Another example favouring the location of BPES at 3q2. (Letter)&lt;/strong&gt; J. Med. Genet. 30: 86 only, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8481195/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8481195&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.30.1.86&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8481195">De Almeida et al. (1993)</a> described an apparently balanced translocation, t(3;8)(q23;p21.1), in a child with mild mental retardation, blepharophimosis, ptosis, telecanthus, and epicanthus inversus. The patient was microcephalic with mild dysmorphism and minor anomalies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8481195" 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>Reinforcement of the suggestion that the BPES gene is located at 3q2 was provided by <a href="#18" class="mim-tip-reference" title="Fryns, J. P., Stromme, P., van den Berghe, H. &lt;strong&gt;Further evidence for the location of the blepharophimosis syndrome (BPES) at 3q22.3-q23.&lt;/strong&gt; Clin. Genet. 44: 149-151, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8275574/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8275574&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1993.tb03867.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8275574">Fryns et al. (1993)</a>, who described a 6-year-old mentally retarded boy, born to normal parents, who had typical signs of the disorder and a de novo interstitial deletion of chromosome 3: del(3)(q22.3-q23). <a href="#23" class="mim-tip-reference" title="Ishikiriyama, S., Goto, M. &lt;strong&gt;Blepharophimosis sequence (BPES) and microcephaly in a girl with del(3)(q22.2q23): a putative gene responsible for microcephaly close to the BPES gene?&lt;/strong&gt; Am. J. Med. Genet. 47: 487-489, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8256811/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8256811&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320470411&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8256811">Ishikiriyama and Goto (1993)</a> described a girl with BPES, microcephaly of postnatal onset, mild developmental retardation, and a de novo deletion del(3)(q22.2q23). <a href="#26" class="mim-tip-reference" title="Jewett, T., Rao, P. N., Weaver, R. G., Stewart, W., Thomas, I. T., Pettenati, M. J. &lt;strong&gt;Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) associated with interstitial deletion of band 3q22: review and gene assignment to the interface of band 3q22.3 and 3q23.&lt;/strong&gt; Am. J. Med. Genet. 47: 1147-1150, 1993.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8291545/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8291545&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320470802&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8291545">Jewett et al. (1993)</a> described an interstitial deletion of 3q22. From a review of the other reported cases, they concluded that a locus for eyelid development is situated at the interface of bands 3q22.3 and 3q23. <a href="#57" class="mim-tip-reference" title="Wolstenholme, J., Brown, J., Masters, K. G., Wright, C., English, C. J. &lt;strong&gt;Blepharophimosis sequence and diaphragmatic hernia associated with interstitial deletion of chromosome 3 (46,XY,del(3)(q21q23)).&lt;/strong&gt; J. Med. Genet. 31: 647-648, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7815425/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7815425&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.31.8.647&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7815425">Wolstenholme et al. (1994)</a> reported a sporadic case of BPES associated with prenatally diagnosed diaphragmatic hernia and interstitial deletion of the long arm of chromosome 3, del(3)(q21q23). <a href="#24" class="mim-tip-reference" title="Ishikiriyama, S., Goto, M. &lt;strong&gt;Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) and microcephaly. (Letter)&lt;/strong&gt; Am. J. Med. Genet. 52: 245, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7802022/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7802022&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320520228&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7802022">Ishikiriyama and Goto (1994)</a> suggested that the association of BPES with microcephaly or other manifestations of 'general hypoplasia of the CNS' such as hypotrophy of the cerebellar vermis may represent a contiguous gene syndrome because of the observed association with interstitial deletions. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8291545+7802022+8275574+7815425+8256811" 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="Boccone, L., Meloni, A., Falchi, A. M., Usai, V., Cao, A. &lt;strong&gt;Blepharophimosis, ptosis, epicanthus inversus syndrome, a new case associated with de novo balanced autosomal translocation [46,XY,t(3;7)(q23;q32)].&lt;/strong&gt; Am. J. Med. Genet. 51: 258-259, 1994.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8074155/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8074155&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1002/ajmg.1320510317&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8074155">Boccone et al. (1994)</a> described a de novo, apparently balanced, reciprocal translocation between the long arms of chromosomes 3 and 7 in a 2-year-old male with BPES; the breakpoints were 3q23 and 7q32. <a href="#55" class="mim-tip-reference" title="Warburg, M., Bugge, M., Brondum-Nielsen, K. &lt;strong&gt;Cytogenetic findings indicate heterogeneity in patients with blepharophimosis, epicanthus inversus, and developmental delay.&lt;/strong&gt; J. Med. Genet. 32: 19-24, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7897621/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7897621&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.32.1.19&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7897621">Warburg et al. (1995)</a> described 3 unrelated, mentally retarded boys with typical BPES, each of whom had chromosomal aberrations. One of them was thought to have a deletion of 3p25 and a second was thought to have a loss of band 3q23. The third patient, however, had a del(7)(q34). The phenotypes of the 2 patients with the chromosome 3 aberrations were similar, but the third had, in addition to features of BPES, genital malformations resembling those of the Smith-Lemli-Opitz syndrome (SLO; <a href="/entry/270400">270400</a>), which maps to 7q34-qter. The patient had a palatal ridge as well as a single mesial maxillary tooth, suggesting the holoprosencephaly sequence, but CT scans of the brain were normal. <a href="#19" class="mim-tip-reference" title="Fryns, J. P. &lt;strong&gt;The concurrence of the blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) and Langer type of mesomelic dwarfism in the same patient: evidence of the location of Langer type of mesomelic dwarfism at 3q22.3-q23? (Letter)&lt;/strong&gt; Clin. Genet. 48: 111-112, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7586651/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7586651&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.1995.tb04067.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7586651">Fryns (1995)</a> described a patient in whom BPES was associated with the Langer type of mesomelic dwarfism (<a href="/entry/249700">249700</a>). He suggested that a submicroscopic deletion of 3q22.3-q23 was responsible for the concurrence of the 2 disorders. <a href="#29" class="mim-tip-reference" title="Karimi-Nejad, A., Karimi-Nejad, R., Najafi, H., Karimi-Nejad, M. H. &lt;strong&gt;Blepharophimosis syndrome (BPES) and additional abnormalities in a female with a balanced X:3 translocation. (Letter)&lt;/strong&gt; Clin. Dysmorph. 5: 259-261, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8818456/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8818456&lt;/a&gt;]" pmid="8818456">Karimi-Nejad et al. (1996)</a> reported a sporadic translocation t(X;3)(p22;q21) in a girl with typical manifestations of BPES. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8818456+8074155+7897621+7586651" 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>Common clinical features of patients with 3q23 deletion include BPES, growth and mental retardation, microcephaly, ear and nose dysmorphism, and joint and digital abnormalities. <a href="#8" class="mim-tip-reference" title="Chandler, K. E., de Die-Smulders, C. E. M., Engelen, J. J. M., Schrander, J. J. P. &lt;strong&gt;Severe feeding problems and congenital laryngostenosis in a patient with 3q23 deletion.&lt;/strong&gt; Europ. J. Pediat. 156: 636-638, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9266197/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9266197&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s004310050681&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9266197">Chandler et al. (1997)</a> described a 3-year-old girl with BPES, mental retardation, facial dysmorphism, and camptodactyly. In addition, she had a congenitally small larynx and severe, chronic feeding difficulties. Chromosome studies revealed an interstitial deletion, del(3)(q23-q25). <a href="#7" class="mim-tip-reference" title="Cai, T., Tagle, D. A., Xia, X., Yu, P., He, X. X., Li, L. Y., Xia, J. H. &lt;strong&gt;A novel case of unilateral blepharophimosis syndrome and mental retardation associated with de novo trisomy for chromosome 3q.&lt;/strong&gt; J. Med. Genet. 34: 772-776, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9321768/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9321768&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.34.9.772&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9321768">Cai et al. (1997)</a> reported a 3.5-year-old girl with an unbalanced translocation 46,XX,der(7)t(3;7)(q26-qter;q+) resulting in trisomy 43q26-qter. The child had blepharophimosis, unilateral ptosis, high forehead, microcephaly, and mental retardation, but did not have epicanthus inversus. <a href="#7" class="mim-tip-reference" title="Cai, T., Tagle, D. A., Xia, X., Yu, P., He, X. X., Li, L. Y., Xia, J. H. &lt;strong&gt;A novel case of unilateral blepharophimosis syndrome and mental retardation associated with de novo trisomy for chromosome 3q.&lt;/strong&gt; J. Med. Genet. 34: 772-776, 1997.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9321768/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9321768&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.34.9.772&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9321768">Cai et al. (1997)</a> suggested that BPES is genetically heterogeneous and may be the result of a contiguous gene defect. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9266197+9321768" 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>
</span>
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<div>
<a id="mapping" class="mim-anchor"></a>
<h4 href="#mimMappingFold" id="mimMappingToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-font">
<strong>Mapping</strong>
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<p><a href="#46" class="mim-tip-reference" title="Small, K. W., Stalvey, M., Fisher, L., Mullen, L., Dickel, C., Beadles, K., Reimer, R., Lessner, A., Lewis, K., Pericak-Vance, M. A. &lt;strong&gt;Blepharophimosis syndrome is linked to chromosome 3q.&lt;/strong&gt; Hum. Molec. Genet. 4: 443-448, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7795600/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7795600&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/4.3.443&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7795600">Small et al. (1995)</a> studied 2 BPES families with autosomal dominant inheritance and obtained a maximum lod score of 3.23 using the markers rhodopsin (<a href="/entry/180380">180380</a>), located at 3q21-q24; prostate acid phosphatase (<a href="/entry/171790">171790</a>), located at 3q21-q23; and D3S1238. No evidence of genetic heterogeneity was observed. In a large French pedigree, <a href="#3" class="mim-tip-reference" title="Amati, P., Chomel, J.-C., Nivelon-Chevalier, A., Gilgenkrantz, S., Kitzis, A., Kaplan, J., Bonneau, D. &lt;strong&gt;A gene for blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosome 3q23.&lt;/strong&gt; Hum. Genet. 96: 213-215, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7635472/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7635472&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/BF00207381&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7635472">Amati et al. (1995)</a> also mapped the BPES gene to 3q23. With linkage studies in 2 large families, <a href="#22" class="mim-tip-reference" title="Harrar, H. S., Jeffery, S., Patton, M. A. &lt;strong&gt;Linkage analysis in blepharophimosis-ptosis syndrome confirms localisation to 3q21-24.&lt;/strong&gt; J. Med. Genet. 32: 774-777, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8558553/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8558553&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.32.10.774&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="8558553">Harrar et al. (1995)</a> confirmed the assignment of BPES to 3q21-q24 (lod score of 3.2 at D3S1237). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8558553+7795600+7635472" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Amati, P., Gasparini, P., Zlotogora, J., Zelante, L., Chomel, J. C., Kitzis, A., Kaplan, J., Bonneau, D. &lt;strong&gt;A gene for premature ovarian failure associated with eyelid malformation maps to chromosome 3q22-q23. (Letter)&lt;/strong&gt; Am. J. Hum. Genet. 58: 1089-1092, 1996.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/8651270/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;8651270&lt;/a&gt;]" pmid="8651270">Amati et al. (1996)</a> showed that the form of BPES associated with premature ovarian failure (type I of <a href="#58" class="mim-tip-reference" title="Zlotogora, J., Sagi, M., Cohen, T. &lt;strong&gt;The blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two types.&lt;/strong&gt; Am. J. Hum. Genet. 35: 1020-1027, 1983.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/6613996/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;6613996&lt;/a&gt;]" pmid="6613996">Zlotogora et al. (1983)</a>) maps to 3q22-q23, the same chromosomal region as does the form without POF (type II). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6613996+8651270" 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="#32" class="mim-tip-reference" title="Lawson, C. T., Toomes, C., Fryer, A., Carette, M. J. M., Taylor, G. M., Fukushima, Y., Dixon, M. J. &lt;strong&gt;Definition of the blepharophimosis, ptosis, epicanthus inversus syndrome critical region at chromosome 3q23 based on the analysis of chromosomal anomalies.&lt;/strong&gt; Hum. Molec. Genet. 4: 963-967, 1995.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/7633459/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;7633459&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/4.5.963&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="7633459">Lawson et al. (1995)</a> mapped a translocation breakpoint associated with BPES to the D3S1316-D3S1615 interval. The markers in this region were subsequently shown to lie in a different order, with the BPES locus mapping to the 1-cM D3S1576 and D3S1316 interval. <a href="#51" class="mim-tip-reference" title="Toomes, C., Dixon, M. J. &lt;strong&gt;Refinement of a translocation breakpoint associated with blepharophimosis-ptosis-epicanthus inversus syndrome to a 280-kb interval at chromosome 3q23.&lt;/strong&gt; Genomics 53: 308-314, 1998.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/9799597/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;9799597&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1006/geno.1998.5512&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="9799597">Toomes and Dixon (1998)</a> constructed a physical map, consisting of 60 YAC clones and 1 bacterial artificial chromosome, that spanned this region. YAC end isolation led to the creation of novel STSs that were used to reduce the size of the BPES critical region to a 280-kb interval, which was cloned in 2 nonchimeric YACs. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9799597+7633459" 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="#40" class="mim-tip-reference" title="Praphanphoj, V., Goodman, B. K., Thomas, G. H., Niel, K. M., Toomes, C., Dixon, M. J., Geraghty, M. T. &lt;strong&gt;Molecular cytogenetic evaluation in a patient with a translocation (3;21) associated with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES).&lt;/strong&gt; Genomics 65: 67-69, 2000.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10777667/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10777667&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1006/geno.2000.6157&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10777667">Praphanphoj et al. (2000)</a> identified another case of BPES associated with a de novo reciprocal translocation involving 3q23. By fluorescence in situ hybridization analysis using an assortment of probes, they found that the breakpoint in their patient lay proximal to that in the patient studied by <a href="#12" class="mim-tip-reference" title="De Baere, E., Van Roy, N., Speleman, F., Fukushima, Y., De Paepe, A., Messiaen, L. &lt;strong&gt;Closing in on the BPES gene on 3q23: mapping of a de novo reciprocal translocation t(3;4)(q23;p15.2) breakpoint within a 45-kb cosmid and mapping of three candidate genes, RBP1, RBP2, and beta-prime-COP, distal to the breakpoint.&lt;/strong&gt; Genomics 57: 70-78, 1999.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/10191085/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;10191085&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1006/geno.1999.5747&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="10191085">De Baere et al. (1999)</a>, within a 10.5-kb interval. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10191085+10777667" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="inheritance" class="mim-anchor"></a>
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<p>The transmission pattern of BPES in the original family described by <a href="#14" class="mim-tip-reference" title="Dimitry, T. J. &lt;strong&gt;Hereditary ptosis.&lt;/strong&gt; Am. J. Ophthal. 4: 655-658, 1921."None>Dimitry (1921)</a> was consistent with autosomal dominant inheritance (<a href="#38" class="mim-tip-reference" title="Owens, N., Hadley, R. C., Kloepfer, H. W. &lt;strong&gt;Hereditary blepharophimosis, ptosis and epicanthus inversus.&lt;/strong&gt; J. Int. Coll. Surg. 33: 558-574, 1960.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/14429566/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;14429566&lt;/a&gt;]" pmid="14429566">Owens et al., 1960</a>). <a href="#9" class="mim-tip-reference" title="Crisponi, L., Deiana, M., Loi, A., Chiappe, F., Uda, M., Amati, P., Bisceglia, L., Zelante, L., Nagaraja, R., Porcu, S., Ristaldi, M. S., Marzella, R., and 10 others. &lt;strong&gt;The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome.&lt;/strong&gt; Nature Genet. 27: 159-166, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11175783/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11175783&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/84781&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11175783">Crisponi et al. (2001)</a> found that BPES types I and II are autosomal dominant traits. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11175783+14429566" 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="#35" class="mim-tip-reference" title="Nallathambi, J., Moumne, L., De Baere, E., Beysen, D., Usha, K., Sundaresan, P., Veitia, R. A. &lt;strong&gt;A novel polyalanine expansion in FOXL2: the first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunction.&lt;/strong&gt; Hum. Genet. 121: 107-112, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17089161/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17089161&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s00439-006-0276-0&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17089161">Nallathambi et al. (2007)</a> and <a href="#30" class="mim-tip-reference" title="Kaur, I., Hussain, A., Naik, M. N., Murthy, R., Honavar, S. G. &lt;strong&gt;Mutation spectrum of fork-head transcriptional factor gene (FOXL2) in Indian blepharophimosis ptosis epicanthus inversus syndrome (BPES) patients.&lt;/strong&gt; Brit. J. Ophthal. 95: 881-886, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21325395/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21325395&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/bjo.2009.177972&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21325395">Kaur et al. (2011)</a> described an Indian family with autosomal recessive inheritance of BPES type I and type II, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21325395+17089161" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="molecularGenetics" class="mim-anchor"></a>
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<strong>Molecular Genetics</strong>
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<p>By positional cloning, <a href="#9" class="mim-tip-reference" title="Crisponi, L., Deiana, M., Loi, A., Chiappe, F., Uda, M., Amati, P., Bisceglia, L., Zelante, L., Nagaraja, R., Porcu, S., Ristaldi, M. S., Marzella, R., and 10 others. &lt;strong&gt;The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome.&lt;/strong&gt; Nature Genet. 27: 159-166, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11175783/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11175783&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1038/84781&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11175783">Crisponi et al. (2001)</a> identified the FOXL2 gene and identified mutations resulting in truncated proteins in affected individuals with both types I and II BPES (<a href="/entry/605597#0001">605597.0001</a> and <a href="/entry/605597#0002">605597.0002</a>). Consistent with an involvement in those tissues, FOXL2 was found to be selectively expressed in the mesenchyme of developing mouse eyelids and in adult ovarian follicles; in adult humans, it appeared predominantly in the ovary. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11175783" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 sporadic patients and 2 families with BPES, <a href="#5" class="mim-tip-reference" title="Beysen, D., Raes, J., Leroy, B. P, Lucassen, A., Yates, J. R. W., Clayton-Smith, J., Ilyina, H., Sklower Brooks, S., Christin-Maitre, S., Fellous, M., Fryns, J. P., Kim, J. R., and 11 others. &lt;strong&gt;Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome.&lt;/strong&gt; Am. J. Hum. Genet. 77: 205-218, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15962237/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15962237&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=15962237[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/432083&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15962237">Beysen et al. (2005)</a> identified 4 overlapping extragenic microdeletions 230 kb upstream of the FOXL2 gene. The shortest region of deletion overlap contains several conserved nongenic sequences harboring putative transcription factor-binding sites and representing potential long-range cis-regulatory elements. Affected females in the 2 families had BPES type II; BPES type could not be assessed in the sporadic patients. In another family with BPES, <a href="#5" class="mim-tip-reference" title="Beysen, D., Raes, J., Leroy, B. P, Lucassen, A., Yates, J. R. W., Clayton-Smith, J., Ilyina, H., Sklower Brooks, S., Christin-Maitre, S., Fellous, M., Fryns, J. P., Kim, J. R., and 11 others. &lt;strong&gt;Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome.&lt;/strong&gt; Am. J. Hum. Genet. 77: 205-218, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/15962237/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;15962237&lt;/a&gt;, &lt;a href=&quot;https://www.ncbi.nlm.nih.gov/pmc/?term=15962237[PMID]&amp;report=imagesdocsum&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed Image&#x27;, &#x27;domain&#x27;: &#x27;ncbi.nlm.nih.gov&#x27;})&quot;&gt;images&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1086/432083&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="15962237">Beysen et al. (2005)</a> identified an approximately 188-kb microdeletion downstream of the FOXL2 gene. The father of the 2 affected half-sisters was unaffected, suggestive of germinal mosaicism; quantitative analysis using 3 SNPs located in the deletion showed that about 10% of paternal germ cells and 5% of somatic peripheral blood lymphocytes carried the mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15962237" 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="#54" class="mim-tip-reference" title="Vincent, A. L., Watkins, W. J., Sloan, B. H., Shelling, A. N. &lt;strong&gt;Blepharophimosis and bilateral Duane syndrome associated with a FOXL2 mutation.&lt;/strong&gt; Clin. Genet. 68: 520-523, 2005.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/16283882/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;16283882&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1111/j.1399-0004.2005.00527.x&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="16283882">Vincent et al. (2005)</a> reported an 18-month-old girl with sporadic BPES and bilateral type 1 Duane syndrome (see <a href="/entry/126800">126800</a>), in whom they identified a heterozygous duplication of 10 alanine residues in the FOXL2 gene (<a href="/entry/605597#0002">605597.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16283882" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 3 affected males and 1 affected female of a consanguineous Indian family with BPES type I, <a href="#35" class="mim-tip-reference" title="Nallathambi, J., Moumne, L., De Baere, E., Beysen, D., Usha, K., Sundaresan, P., Veitia, R. A. &lt;strong&gt;A novel polyalanine expansion in FOXL2: the first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunction.&lt;/strong&gt; Hum. Genet. 121: 107-112, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17089161/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17089161&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s00439-006-0276-0&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17089161">Nallathambi et al. (2007)</a> identified a homozygous duplication in the FOXL2 gene (<a href="/entry/605597#0018">605597.0018</a>), resulting in a polyalanine expansion from 14 to 19 residues (Ala19). Several unaffected relatives were heterozygous for the mutation, indicating autosomal recessive inheritance in this family. The affected 30-year-old woman had amenorrhea and impaired fertility, consistent with ovarian dysfunction. <a href="#35" class="mim-tip-reference" title="Nallathambi, J., Moumne, L., De Baere, E., Beysen, D., Usha, K., Sundaresan, P., Veitia, R. A. &lt;strong&gt;A novel polyalanine expansion in FOXL2: the first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunction.&lt;/strong&gt; Hum. Genet. 121: 107-112, 2007.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/17089161/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;17089161&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1007/s00439-006-0276-0&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="17089161">Nallathambi et al. (2007)</a> noted that ala19 is the shortest polyalanine expansion (+5) described in the FOXL2 gene and may confer residual enzyme activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17089161" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In an Indian cohort comprising 6 familial and 2 sporadic cases of BPES type I or type II, <a href="#30" class="mim-tip-reference" title="Kaur, I., Hussain, A., Naik, M. N., Murthy, R., Honavar, S. G. &lt;strong&gt;Mutation spectrum of fork-head transcriptional factor gene (FOXL2) in Indian blepharophimosis ptosis epicanthus inversus syndrome (BPES) patients.&lt;/strong&gt; Brit. J. Ophthal. 95: 881-886, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21325395/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21325395&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/bjo.2009.177972&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21325395">Kaur et al. (2011)</a> identified 6 heterozygous mutations in the FOXL2 gene, 3 of which were novel (see, e.g., E69K; <a href="/entry/605597#0020">605597.0020</a>). In the family with BPES type II and the E69K mutation (family BPES6), some patients were heterozygous and others homozygous; patients homozygous for the mutation had more a more severe phenotype. In another family, an affected female also had polycystic ovarian disease. <a href="#30" class="mim-tip-reference" title="Kaur, I., Hussain, A., Naik, M. N., Murthy, R., Honavar, S. G. &lt;strong&gt;Mutation spectrum of fork-head transcriptional factor gene (FOXL2) in Indian blepharophimosis ptosis epicanthus inversus syndrome (BPES) patients.&lt;/strong&gt; Brit. J. Ophthal. 95: 881-886, 2011.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/21325395/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;21325395&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/bjo.2009.177972&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="21325395">Kaur et al. (2011)</a> noted that mutations in the region downstream of the forkhead domain were predominantly responsible for BPES among Indian patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21325395" 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>Using piggyBac (PB) insertional mutagenesis, <a href="#45" class="mim-tip-reference" title="Shi, F., Ding, S., Zhao, S., Han, M., Zhuang, Y., Xu, T., Wu, X. &lt;strong&gt;A piggyBac insertion disrupts Foxl2 expression that mimics BPES syndrome in mice.&lt;/strong&gt; Hum. Molec. Genet. 23: 3792-3800, 2014.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/24565867/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;24565867&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/ddu092&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="24565867">Shi et al. (2014)</a> created a line of mice with a modest yet significant reduction in Foxl2 expression. Homozygous PB/PB mice began to lose weight approximately 2 weeks after birth, and most died within the first month of life. At 3 weeks of age, they showed significant overgrowth of mandibular incisors with malocclusion, and some showed palpebral anomalies and periocular hair loss. Surviving female PB/PB mice were subfertile, with smaller than normal ovaries and uteri. <a href="#45" class="mim-tip-reference" title="Shi, F., Ding, S., Zhao, S., Han, M., Zhuang, Y., Xu, T., Wu, X. &lt;strong&gt;A piggyBac insertion disrupts Foxl2 expression that mimics BPES syndrome in mice.&lt;/strong&gt; Hum. Molec. Genet. 23: 3792-3800, 2014.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/24565867/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;24565867&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/ddu092&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="24565867">Shi et al. (2014)</a> concluded that PB/PB mice recapitulated the craniofacial and ovarian conditions of type I BPES patients. The authors mapped the PB insertion site to a region approximately 160 kb upstream of the Foxl2 transcription start site and approximately 10 kb upstream of an element, ECF1, that showed a high degree of conservation among goat, mouse, and human. ECF1 functioned as an enhancer in reporter gene assays and interacted directly with the Foxl2 promoter in chromosome conformation capture assays. <a href="#45" class="mim-tip-reference" title="Shi, F., Ding, S., Zhao, S., Han, M., Zhuang, Y., Xu, T., Wu, X. &lt;strong&gt;A piggyBac insertion disrupts Foxl2 expression that mimics BPES syndrome in mice.&lt;/strong&gt; Hum. Molec. Genet. 23: 3792-3800, 2014.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/24565867/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;24565867&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1093/hmg/ddu092&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="24565867">Shi et al. (2014)</a> noted that BPES patients with balanced translocations and chromosome breakpoints 130, 160, or 171 kb upstream of FOXL2 have been reported. The authors hypothesized that these translocations may isolate transcription regulatory elements, including the human ECF1 ortholog, leading to FOXL2 misregulation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24565867" 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>So-called 'BPES3,' which had been mapped in an Indian family to 7p, has been shown to be part of the phenotypic spectrum of Saethre-Chotzen syndrome (SCS; <a href="/entry/101400">101400</a>) and to result from mutation in the TWIST1 gene (<a href="/entry/601622">601622</a>) on 7p21. This finding supported locus homogeneity of BPES at 3q22 (<a href="#15" class="mim-tip-reference" title="Dollfus, H., Kumaramanickavel, G., Biswas, P., Stoetzel, C., Quillet, R., Denton, M., Maw, M., Perrin-Schmitt, F. &lt;strong&gt;Locus homogeneity of the familial blepharophimosis-ptosis-epicanthus syndrome (BPES) at the 3q22 locus and identification of a new TWIST mutation (7p21) with variable eyelid manifestations.&lt;/strong&gt; J. Med. Genet. 38: 470-472, 2001.[PubMed: &lt;a href=&quot;https://pubmed.ncbi.nlm.nih.gov/11474656/&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;name&#x27;: &#x27;PubMed&#x27;, &#x27;domain&#x27;: &#x27;pubmed.ncbi.nlm.nih.gov&#x27;})&quot;&gt;11474656&lt;/a&gt;] [&lt;a href=&quot;https://doi.org/10.1136/jmg.38.7.470&quot; target=&quot;_blank&quot; onclick=&quot;gtag(&#x27;event&#x27;, &#x27;mim_outbound&#x27;, {&#x27;destination&#x27;: &#x27;Publisher&#x27;})&quot;&gt;Full Text&lt;/a&gt;]" pmid="11474656">Dollfus et al., 2001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11474656" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Kohn1971" class="mim-tip-reference" title="Kohn, R., Romano, P. E. &lt;strong&gt;Blepharoptosis, blepharophimosis, epicanthus inversus, and telecanthus--a syndrome with no name.&lt;/strong&gt; Am. J. Ophthal. 72: 625-632, 1971.">Kohn and Romano (1971)</a>; <a href="#Pueschel1979" class="mim-tip-reference" title="Pueschel, S. M., Barsel-Bowers, G. &lt;strong&gt;A dominantly inherited congenital anomaly syndrome with blepharophimosis.&lt;/strong&gt; J. Pediat. 95: 1010-1012, 1979.">Pueschel and Barsel-Bowers (1979)</a>; <a href="#Stoll1974" class="mim-tip-reference" title="Stoll, C., Levy, J. M., Bigel, P., Francfort, J. J. &lt;strong&gt;Etude genetique due blepharophimosis familial (maladie autosomique dominante).&lt;/strong&gt; J. Genet. Hum. 22: 353-363, 1974.">Stoll et
al. (1974)</a>
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Al-Awadi, S. A., Naguib, K. K., Farag, T. I., Teebi, A. S., Cuschieri, A., Al-Othman, S. A., Sundareshan, T. S.
<strong>Complex translocation involving chromosomes Y, 1, and 3 resulting in deletion of segment 3q23-q25.</strong>
J. Med. Genet. 23: 91-92, 1986.
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[<a href="https://doi.org/10.1136/jmg.23.1.91" target="_blank">Full Text</a>]
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<a id="2" class="mim-anchor"></a>
<a id="Alvarado1987" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Alvarado, M., Bocian, M., Walker, A. P.
<strong>Interstitial deletion of the long arm of chromosome 3: case report, review, and definition of a phenotype.</strong>
Am. J. Med. Genet. 27: 781-786, 1987.
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[<a href="https://doi.org/10.1002/ajmg.1320270406" target="_blank">Full Text</a>]
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<a id="3" class="mim-anchor"></a>
<a id="Amati1995" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Amati, P., Chomel, J.-C., Nivelon-Chevalier, A., Gilgenkrantz, S., Kitzis, A., Kaplan, J., Bonneau, D.
<strong>A gene for blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosome 3q23.</strong>
Hum. Genet. 96: 213-215, 1995.
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[<a href="https://doi.org/10.1007/BF00207381" target="_blank">Full Text</a>]
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<a id="Amati1996" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Amati, P., Gasparini, P., Zlotogora, J., Zelante, L., Chomel, J. C., Kitzis, A., Kaplan, J., Bonneau, D.
<strong>A gene for premature ovarian failure associated with eyelid malformation maps to chromosome 3q22-q23. (Letter)</strong>
Am. J. Hum. Genet. 58: 1089-1092, 1996.
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<div class="">
<p class="mim-text-font">
Beysen, D., Raes, J., Leroy, B. P, Lucassen, A., Yates, J. R. W., Clayton-Smith, J., Ilyina, H., Sklower Brooks, S., Christin-Maitre, S., Fellous, M., Fryns, J. P., Kim, J. R., and 11 others.
<strong>Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome.</strong>
Am. J. Hum. Genet. 77: 205-218, 2005.
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[<a href="https://doi.org/10.1086/432083" target="_blank">Full Text</a>]
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<a id="Boccone1994" class="mim-anchor"></a>
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Boccone, L., Meloni, A., Falchi, A. M., Usai, V., Cao, A.
<strong>Blepharophimosis, ptosis, epicanthus inversus syndrome, a new case associated with de novo balanced autosomal translocation [46,XY,t(3;7)(q23;q32)].</strong>
Am. J. Med. Genet. 51: 258-259, 1994.
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[<a href="https://doi.org/10.1002/ajmg.1320510317" target="_blank">Full Text</a>]
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<a id="Cai1997" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Cai, T., Tagle, D. A., Xia, X., Yu, P., He, X. X., Li, L. Y., Xia, J. H.
<strong>A novel case of unilateral blepharophimosis syndrome and mental retardation associated with de novo trisomy for chromosome 3q.</strong>
J. Med. Genet. 34: 772-776, 1997.
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[<a href="https://doi.org/10.1136/jmg.34.9.772" target="_blank">Full Text</a>]
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<a id="Chandler1997" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Chandler, K. E., de Die-Smulders, C. E. M., Engelen, J. J. M., Schrander, J. J. P.
<strong>Severe feeding problems and congenital laryngostenosis in a patient with 3q23 deletion.</strong>
Europ. J. Pediat. 156: 636-638, 1997.
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[<a href="https://doi.org/10.1007/s004310050681" target="_blank">Full Text</a>]
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<a id="Crisponi2001" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Crisponi, L., Deiana, M., Loi, A., Chiappe, F., Uda, M., Amati, P., Bisceglia, L., Zelante, L., Nagaraja, R., Porcu, S., Ristaldi, M. S., Marzella, R., and 10 others.
<strong>The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome.</strong>
Nature Genet. 27: 159-166, 2001.
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[<a href="https://doi.org/10.1038/84781" target="_blank">Full Text</a>]
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<a id="Cunniff1998" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Cunniff, C., Curtis, M., Hassed, S. J., Hoyme, H. E.
<strong>Blepharophimosis: a causally heterogeneous malformation frequently associated with developmental disabilities.</strong>
Am. J. Med. Genet. 75: 52-54, 1998.
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[<a href="https://doi.org/10.1002/(sici)1096-8628(19980106)75:1&lt;52::aid-ajmg11&gt;3.0.co;2-r" target="_blank">Full Text</a>]
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<a id="11" class="mim-anchor"></a>
<a id="de Almeida1993" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
de Almeida, J. C., Llerena, J. C., Jr., Goncalves Neto, J. B., Jung, M., Martins, R. R.
<strong>Another example favouring the location of BPES at 3q2. (Letter)</strong>
J. Med. Genet. 30: 86 only, 1993.
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[<a href="https://doi.org/10.1136/jmg.30.1.86" target="_blank">Full Text</a>]
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<a id="12" class="mim-anchor"></a>
<a id="De Baere1999" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
De Baere, E., Van Roy, N., Speleman, F., Fukushima, Y., De Paepe, A., Messiaen, L.
<strong>Closing in on the BPES gene on 3q23: mapping of a de novo reciprocal translocation t(3;4)(q23;p15.2) breakpoint within a 45-kb cosmid and mapping of three candidate genes, RBP1, RBP2, and beta-prime-COP, distal to the breakpoint.</strong>
Genomics 57: 70-78, 1999.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10191085/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10191085</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10191085" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1006/geno.1999.5747" target="_blank">Full Text</a>]
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<a id="de Die-Smulders1991" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
de Die-Smulders, C. E. M., Engelen, J. J. M., Donk, J. M., Fryns, J. P.
<strong>Further evidence for the location of the BPES gene at 3q2. (Letter)</strong>
J. Med. Genet. 28: 725, 1991.
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[<a href="https://doi.org/10.1136/jmg.28.10.725" target="_blank">Full Text</a>]
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<a id="Dimitry1921" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Dimitry, T. J.
<strong>Hereditary ptosis.</strong>
Am. J. Ophthal. 4: 655-658, 1921.
</p>
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<p class="mim-text-font">
Dollfus, H., Kumaramanickavel, G., Biswas, P., Stoetzel, C., Quillet, R., Denton, M., Maw, M., Perrin-Schmitt, F.
<strong>Locus homogeneity of the familial blepharophimosis-ptosis-epicanthus syndrome (BPES) at the 3q22 locus and identification of a new TWIST mutation (7p21) with variable eyelid manifestations.</strong>
J. Med. Genet. 38: 470-472, 2001.
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[<a href="https://doi.org/10.1136/jmg.38.7.470" target="_blank">Full Text</a>]
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<a id="16" class="mim-anchor"></a>
<a id="Finley1990" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Finley, W. H., Callahan, A., Thompson, J. N.
<strong>Parental age in the blepharophimosis, ptosis, epicanthus inversus, telecanthus complex.</strong>
Am. J. Med. Genet. 36: 414-417, 1990.
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[<a href="https://doi.org/10.1002/ajmg.1320360409" target="_blank">Full Text</a>]
</p>
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<a id="Fraser1988" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Fraser, I. S., Shearman, R. P., Smith, A., Russell, P.
<strong>An association between blepharophimosis, resistant ovary syndrome and true premature menopause.</strong>
Fertil. Steril. 50: 747-751, 1988.
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[<a href="https://doi.org/10.1016/s0015-0282(16)60309-6" target="_blank">Full Text</a>]
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<a id="Fryns1993" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Fryns, J. P., Stromme, P., van den Berghe, H.
<strong>Further evidence for the location of the blepharophimosis syndrome (BPES) at 3q22.3-q23.</strong>
Clin. Genet. 44: 149-151, 1993.
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[<a href="https://doi.org/10.1111/j.1399-0004.1993.tb03867.x" target="_blank">Full Text</a>]
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<a id="Fryns1995" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Fryns, J. P.
<strong>The concurrence of the blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) and Langer type of mesomelic dwarfism in the same patient: evidence of the location of Langer type of mesomelic dwarfism at 3q22.3-q23? (Letter)</strong>
Clin. Genet. 48: 111-112, 1995.
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[<a href="https://doi.org/10.1111/j.1399-0004.1995.tb04067.x" target="_blank">Full Text</a>]
</p>
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<a id="Fujita1992" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Fujita, H., Meng, J., Kawamura, M., Tozuka, N., Ishii, F., Tanaka, N.
<strong>Boy with a chromosome del(3)(q12q23) and blepharophimosis syndrome.</strong>
Am. J. Med. Genet. 44: 434-436, 1992.
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[<a href="https://doi.org/10.1002/ajmg.1320440409" target="_blank">Full Text</a>]
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<a id="21" class="mim-anchor"></a>
<a id="Fukushima1990" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Fukushima, Y., Wakui, K., Nishida, T., Ueoka, Y.
<strong>Blepharophymosis (sic) syndrome and de novo balanced autosomal translocation [46,XY,t(3;4)(q23;p15.2)]: possible localization of blepharophymosis (sic) syndrome to 3q23. (Abstract)</strong>
Am. J. Hum. Genet. 47: A29, 1990.
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<a id="Harrar1995" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Harrar, H. S., Jeffery, S., Patton, M. A.
<strong>Linkage analysis in blepharophimosis-ptosis syndrome confirms localisation to 3q21-24.</strong>
J. Med. Genet. 32: 774-777, 1995.
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[<a href="https://doi.org/10.1136/jmg.32.10.774" target="_blank">Full Text</a>]
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<a id="23" class="mim-anchor"></a>
<a id="Ishikiriyama1993" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Ishikiriyama, S., Goto, M.
<strong>Blepharophimosis sequence (BPES) and microcephaly in a girl with del(3)(q22.2q23): a putative gene responsible for microcephaly close to the BPES gene?</strong>
Am. J. Med. Genet. 47: 487-489, 1993.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8256811/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8256811</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8256811" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320470411" target="_blank">Full Text</a>]
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<a id="24" class="mim-anchor"></a>
<a id="Ishikiriyama1994" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Ishikiriyama, S., Goto, M.
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Am. J. Med. Genet. 52: 245, 1994.
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[<a href="https://doi.org/10.1002/ajmg.1320520228" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320470802" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1001/archopht.1964.00970010526015" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/bjo.68.8.533" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/bjo.2009.177972" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0002-9394(71)90864-6" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/4.5.963" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/s00439-006-0276-0" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.24.5.305" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.25.1.47" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s0022-3476(86)80377-8" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/ddu092" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/4.3.443" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.26.7.434" target="_blank">Full Text</a>]
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<a id="50" class="mim-anchor"></a>
<a id="Temple1989" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Temple, I. K., Baraitser, M.
<strong>Pitfalls in counselling of the blepharophimosis, ptosis, epicanthus inversus syndrome (BPES).</strong>
J. Med. Genet. 26: 517-519, 1989.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2769724/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2769724</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2769724" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmg.26.8.517" target="_blank">Full Text</a>]
</p>
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<a id="51" class="mim-anchor"></a>
<a id="Toomes1998" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Toomes, C., Dixon, M. J.
<strong>Refinement of a translocation breakpoint associated with blepharophimosis-ptosis-epicanthus inversus syndrome to a 280-kb interval at chromosome 3q23.</strong>
Genomics 53: 308-314, 1998.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9799597/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9799597</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9799597" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1006/geno.1998.5512" target="_blank">Full Text</a>]
</p>
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<a id="52" class="mim-anchor"></a>
<a id="Townes1979" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Townes, P. L., Muechler, E. K.
<strong>Blepharophimosis, ptosis, epicanthus inversus and primary amenorrhoea.</strong>
Arch. Ophthal. 97: 1664-1666, 1979.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/475637/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">475637</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=475637" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1001/archopht.1979.01020020232010" target="_blank">Full Text</a>]
</p>
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<a id="53" class="mim-anchor"></a>
<a id="Vignes1889" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Vignes, (NI).
<strong>Epicanthus hereditaire.</strong>
Rev. Gen. Ophthal. 8: 438, 1889.
</p>
</div>
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<a id="54" class="mim-anchor"></a>
<a id="Vincent2005" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Vincent, A. L., Watkins, W. J., Sloan, B. H., Shelling, A. N.
<strong>Blepharophimosis and bilateral Duane syndrome associated with a FOXL2 mutation.</strong>
Clin. Genet. 68: 520-523, 2005.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16283882/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16283882</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16283882" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1111/j.1399-0004.2005.00527.x" target="_blank">Full Text</a>]
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<a id="55" class="mim-anchor"></a>
<a id="Warburg1995" class="mim-anchor"></a>
<div class="">
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Warburg, M., Bugge, M., Brondum-Nielsen, K.
<strong>Cytogenetic findings indicate heterogeneity in patients with blepharophimosis, epicanthus inversus, and developmental delay.</strong>
J. Med. Genet. 32: 19-24, 1995.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7897621/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7897621</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7897621" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmg.32.1.19" target="_blank">Full Text</a>]
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<a id="56" class="mim-anchor"></a>
<a id="Williamson1981" class="mim-anchor"></a>
<div class="">
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Williamson, R. A., Donlan, M. A., Dolan, C. R., Thuline, H. C., Harrison, M. T., Hall, J. G.
<strong>Familial insertional translocation of a portion of 3q into 11q resulting in duplication and deletion of region 3q22.1-q24 in different offspring.</strong>
Am. J. Med. Genet. 9: 105-111, 1981.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7258223/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7258223</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7258223" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1002/ajmg.1320090204" target="_blank">Full Text</a>]
</p>
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<a id="57" class="mim-anchor"></a>
<a id="Wolstenholme1994" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Wolstenholme, J., Brown, J., Masters, K. G., Wright, C., English, C. J.
<strong>Blepharophimosis sequence and diaphragmatic hernia associated with interstitial deletion of chromosome 3 (46,XY,del(3)(q21q23)).</strong>
J. Med. Genet. 31: 647-648, 1994.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7815425/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7815425</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7815425" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
[<a href="https://doi.org/10.1136/jmg.31.8.647" target="_blank">Full Text</a>]
</p>
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<a id="58" class="mim-anchor"></a>
<a id="Zlotogora1983" class="mim-anchor"></a>
<div class="">
<p class="mim-text-font">
Zlotogora, J., Sagi, M., Cohen, T.
<strong>The blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two types.</strong>
Am. J. Hum. Genet. 35: 1020-1027, 1983.
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6613996/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6613996</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6613996" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
</p>
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<span class="mim-text-font">
Patricia A. Hartz - updated : 11/19/2014
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Jane Kelly - updated : 8/15/2011<br>Cassandra L. Kniffin - updated : 5/11/2007<br>Marla J. F. O'Neill - updated : 10/25/2006<br>Marla J. F. O'Neill - updated : 8/30/2005<br>Victor A. McKusick - updated : 9/20/2002<br>Victor A. McKusick - updated : 5/22/2002<br>Victor A. McKusick - updated : 2/26/2001<br>Victor A. McKusick - updated : 1/25/2001<br>Victor A. McKusick - updated : 1/26/1999<br>Victor A. McKusick - updated : 2/24/1998<br>Michael J. Wright - updated : 2/11/1998<br>Victor A. McKusick - updated : 10/10/1997<br>Moyra Smith - updated : 1/30/1997<br>Iosif W. Lurie - updated : 8/12/1996
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<a id="creationDate" class="mim-anchor"></a>
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Creation Date:
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Victor A. McKusick : 6/4/1986
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carol : 05/04/2022
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alopez : 02/04/2020<br>carol : 01/22/2020<br>carol : 07/12/2019<br>carol : 04/02/2018<br>carol : 03/30/2018<br>carol : 03/29/2018<br>carol : 03/28/2018<br>mgross : 11/19/2014<br>carol : 8/17/2011<br>terry : 8/15/2011<br>wwang : 10/30/2008<br>wwang : 6/13/2007<br>wwang : 5/14/2007<br>ckniffin : 5/11/2007<br>ckniffin : 5/11/2007<br>wwang : 10/26/2006<br>terry : 10/25/2006<br>wwang : 8/30/2005<br>carol : 12/22/2004<br>tkritzer : 9/24/2002<br>tkritzer : 9/20/2002<br>alopez : 6/6/2002<br>alopez : 6/5/2002<br>cwells : 6/5/2002<br>terry : 5/22/2002<br>mcapotos : 3/5/2001<br>carol : 3/2/2001<br>mcapotos : 3/1/2001<br>cwells : 3/1/2001<br>terry : 2/26/2001<br>alopez : 2/5/2001<br>alopez : 2/1/2001<br>alopez : 2/1/2001<br>alopez : 1/26/2001<br>terry : 1/25/2001<br>mcapotos : 7/20/2000<br>mgross : 3/16/1999<br>carol : 1/27/1999<br>terry : 1/26/1999<br>dholmes : 2/24/1998<br>dholmes : 2/24/1998<br>dholmes : 2/18/1998<br>alopez : 2/18/1998<br>terry : 2/11/1998<br>terry : 10/10/1997<br>terry : 9/15/1997<br>alopez : 7/9/1997<br>terry : 1/30/1997<br>carol : 8/12/1996<br>terry : 5/3/1996<br>terry : 4/29/1996<br>mark : 11/6/1995<br>terry : 4/24/1995<br>carol : 3/19/1995<br>mimadm : 4/18/1994<br>warfield : 4/7/1994<br>carol : 12/13/1993
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<h3>
<span class="mim-font">
<strong>#</strong> 110100
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<h3>
<span class="mim-font">
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES
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<p>
<span class="mim-font">
Other entities represented in this entry:
</span>
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<span class="h3 mim-font">
BPES, TYPE I, INCLUDED
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<span class="h4 mim-font">
BPES WITH OVARIAN FAILURE, INCLUDED<br />
BPES, TYPE II, INCLUDED<br />
BPES WITHOUT OVARIAN FAILURE, INCLUDED<br />
BPES WITH DUANE RETRACTION SYNDROME, INCLUDED
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<span class="mim-text-font">
<strong>SNOMEDCT:</strong> 715391004; &nbsp;
<strong>ORPHA:</strong> 126, 572354, 572361; &nbsp;
<strong>DO:</strong> 14778; &nbsp;
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<h4>
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<strong>Phenotype-Gene Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<th>
Location
</th>
<th>
Phenotype
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<th>
Phenotype <br /> MIM number
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<th>
Inheritance
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<th>
Phenotype <br /> mapping key
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Gene/Locus
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Gene/Locus <br /> MIM number
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<td>
<span class="mim-font">
3q22.3
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<td>
<span class="mim-font">
Blepharophimosis, epicanthus inversus, and ptosis, type 1
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<td>
<span class="mim-font">
110100
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<span class="mim-font">
Autosomal dominant; Autosomal recessive
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<span class="mim-font">
3
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<span class="mim-font">
FOXL2
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<span class="mim-font">
605597
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<span class="mim-font">
3q22.3
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<span class="mim-font">
Blepharophimosis, epicanthus inversus, and ptosis, type 2
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<span class="mim-font">
110100
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<span class="mim-font">
Autosomal dominant; Autosomal recessive
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<span class="mim-font">
3
</span>
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<td>
<span class="mim-font">
FOXL2
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<td>
<span class="mim-font">
605597
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</tbody>
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<span class="mim-font">
<strong>TEXT</strong>
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<span class="mim-text-font">
<p>A number sign (#) is used with this entry because blepharophimosis, ptosis, and epicanthus inversus syndrome, either with premature ovarian failure (BPES type I) or without (BPES type II), is caused by heterozygous mutation in the FOXL2 gene (605597) on chromosome 3q22. Rare instances of homozygous mutation in the FOXL2 gene have been reported.</p>
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<span class="mim-font">
<strong>Description</strong>
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<p>BPES syndrome includes a characteristic eyelid dysplasia, namely, small palpebral fissures (blepharophimosis), drooping eyelids (ptosis), and a tiny skin fold running inward and upward from the lower lid (epicanthus inversus). In type I BPES, the eyelid abnormalities are coinherited with ovarian failure; type II BPES consists of the eyelid defects only (summary by Crisponi et al., 2001). </p>
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<span class="mim-font">
<strong>Clinical Features</strong>
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</h4>
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<p>Vignes (1889) probably first described this entity, a dysplasia of the eyelids. In addition to small palpebral fissures, features include epicanthus inversus (fold curving in the mediolateral direction, inferior to the inner canthus), low nasal bridge, and ptosis of the eyelids (Sacrez et al., 1963; Johnson, 1964; Smith, 1970). The condition should be considered distinct from congenital ptosis (178300). </p><p>Owens et al. (1960) updated the pedigree of a family that was first reported by Dimitry (1921), which had affected members in 6 generations. The patients had the classic syndrome triad of blepharophimosis, ptosis, and epicanthus inversus. Raviotta (1971), a physician who is an affected member of the pedigree studied by Owens et al. (1960), provided a first-hand description. Smith (1970) described affected mother and daughter. </p><p>Moraine et al. (1976) suggested that female infertility is a pleiotropic effect of the gene. Townes and Muechler (1979) reported a family in which all affected females had primary ovarian failure. They had a normal female karyotype and normal breast development; pubic and axillary hair was scant, but in a normal female distribution. Laparoscopy showed a small uterus and small atrophic ovaries. </p><p>Zlotogora et al. (1983) suggested that there are 2 forms of BPES: type I with infertility of affected females and type II with transmission by both males and females. The infertility is inherited as an autosomal dominant sex-limited trait. Jones and Collin (1984) reviewed 37 known cases; of the 6 females of child-bearing age, 1 had primary amenorrhea with raised gonadotropins and low estrogen and progesterone. </p><p>Oley and Baraitser (1988) provided an illustrated review of BPES. Fraser et al. (1988) and Smith et al. (1989) described 4 women from 3 families with blepharophimosis, epicanthus inversus, and ptosis who had premature ovarian failure. Two were sisters; they had another affected sister who was not investigated. Two of the 3 families had multiple affected members. Smith et al. (1989) suggested that these cases, type I in the classification of Zlotogora et al. (1983), represented a 'contiguous gene syndrome' (Schmickel, 1986) with a combination of blepharophimosis and familial precocious ovarian failure. </p><p>Temple and Baraitser (1989) reported a family in which an uncle and nephew were clearly affected. The carrier mother had no abnormality as an adult, but photographs of her as a child showed unilateral minimal ptosis without epicanthus inversus. Finley et al. (1990) studied 14 sporadic cases of this syndrome (which they abbreviated BPEI) and found an apparent maternal age effect, but no paternal age effect. </p><p>Panidis et al. (1994) described blepharophimosis in 2 sisters, a brother, and their father. The elder sister presented initially with 'resistant ovary syndrome' and thereafter true premature menopause, while the younger sister presented with resistant ovary syndrome. </p><p>Cunniff et al. (1998) reported 22 individuals referred for genetic evaluation because of blepharophimosis. The blepharophimosis syndrome was present in 14 of the 22, and was familial in 5, sporadic in 9. The other 8 children had a malformation syndrome other than the blepharophimosis syndrome. All 8 were mentally retarded or developmentally delayed. Two of the 8 had recognized disorders, branchiootorenal syndrome (113650) in one and a ring chromosome 4 in the other; the remaining 6 had unrecognized malformation syndromes, each distinctive from the others. </p>
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<h4>
<span class="mim-font">
<strong>Cytogenetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Fukushima et al. (1990) reported a newborn infant with BPES and a de novo balanced 3q23;4p15 reciprocal translocation. In a father and son with typical BPES, de Die-Smulders et al. (1991) found an apparently balanced translocation, t(3;11)(q21;q23). Since blepharophimosis, ptosis, and microphthalmia are consistent features in patients with an interstitial deletion of band 3q2 (Alvarado et al., 1987), the BPES gene was likely to be located at 3q2. </p><p>Williamson et al. (1981) described an 8-year-old boy with marked blepharophimosis, ptosis, sad fixed face, joint contractures, and several other anomalies associated with a del(3)(q22.1-q24), suggestive of Schwartz-Jampel syndrome (255800). Fujita et al. (1992) reported a 6-year-old boy with de novo 46,XY,del(3)(q12q23) and bilateral blepharophimosis, ptosis, epicanthus inversus, as well as multiple other anomalies, including joint contractures and a fixed facial appearance. However, in both patients, normal EMG findings and normal skeletal films excluded the diagnosis of Schwartz-Jampel syndrome. Fujita et al. (1992) suggested that the blepharophimosis sequence in these patients may represent a contiguous gene syndrome. Other relevant cases had been reported by Martsolf and Ray (1983), Al-Awadi et al. (1986), and Okada et al. (1987). </p><p>Jewett et al. (1992) reported a child with classic features of BPES with developmental delay and an interstitial deletion of a single band within 3q: del(3)(q21.3-q22.3). De Almeida et al. (1993) described an apparently balanced translocation, t(3;8)(q23;p21.1), in a child with mild mental retardation, blepharophimosis, ptosis, telecanthus, and epicanthus inversus. The patient was microcephalic with mild dysmorphism and minor anomalies. </p><p>Reinforcement of the suggestion that the BPES gene is located at 3q2 was provided by Fryns et al. (1993), who described a 6-year-old mentally retarded boy, born to normal parents, who had typical signs of the disorder and a de novo interstitial deletion of chromosome 3: del(3)(q22.3-q23). Ishikiriyama and Goto (1993) described a girl with BPES, microcephaly of postnatal onset, mild developmental retardation, and a de novo deletion del(3)(q22.2q23). Jewett et al. (1993) described an interstitial deletion of 3q22. From a review of the other reported cases, they concluded that a locus for eyelid development is situated at the interface of bands 3q22.3 and 3q23. Wolstenholme et al. (1994) reported a sporadic case of BPES associated with prenatally diagnosed diaphragmatic hernia and interstitial deletion of the long arm of chromosome 3, del(3)(q21q23). Ishikiriyama and Goto (1994) suggested that the association of BPES with microcephaly or other manifestations of 'general hypoplasia of the CNS' such as hypotrophy of the cerebellar vermis may represent a contiguous gene syndrome because of the observed association with interstitial deletions. </p><p>Boccone et al. (1994) described a de novo, apparently balanced, reciprocal translocation between the long arms of chromosomes 3 and 7 in a 2-year-old male with BPES; the breakpoints were 3q23 and 7q32. Warburg et al. (1995) described 3 unrelated, mentally retarded boys with typical BPES, each of whom had chromosomal aberrations. One of them was thought to have a deletion of 3p25 and a second was thought to have a loss of band 3q23. The third patient, however, had a del(7)(q34). The phenotypes of the 2 patients with the chromosome 3 aberrations were similar, but the third had, in addition to features of BPES, genital malformations resembling those of the Smith-Lemli-Opitz syndrome (SLO; 270400), which maps to 7q34-qter. The patient had a palatal ridge as well as a single mesial maxillary tooth, suggesting the holoprosencephaly sequence, but CT scans of the brain were normal. Fryns (1995) described a patient in whom BPES was associated with the Langer type of mesomelic dwarfism (249700). He suggested that a submicroscopic deletion of 3q22.3-q23 was responsible for the concurrence of the 2 disorders. Karimi-Nejad et al. (1996) reported a sporadic translocation t(X;3)(p22;q21) in a girl with typical manifestations of BPES. </p><p>Common clinical features of patients with 3q23 deletion include BPES, growth and mental retardation, microcephaly, ear and nose dysmorphism, and joint and digital abnormalities. Chandler et al. (1997) described a 3-year-old girl with BPES, mental retardation, facial dysmorphism, and camptodactyly. In addition, she had a congenitally small larynx and severe, chronic feeding difficulties. Chromosome studies revealed an interstitial deletion, del(3)(q23-q25). Cai et al. (1997) reported a 3.5-year-old girl with an unbalanced translocation 46,XX,der(7)t(3;7)(q26-qter;q+) resulting in trisomy 43q26-qter. The child had blepharophimosis, unilateral ptosis, high forehead, microcephaly, and mental retardation, but did not have epicanthus inversus. Cai et al. (1997) suggested that BPES is genetically heterogeneous and may be the result of a contiguous gene defect. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Mapping</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Small et al. (1995) studied 2 BPES families with autosomal dominant inheritance and obtained a maximum lod score of 3.23 using the markers rhodopsin (180380), located at 3q21-q24; prostate acid phosphatase (171790), located at 3q21-q23; and D3S1238. No evidence of genetic heterogeneity was observed. In a large French pedigree, Amati et al. (1995) also mapped the BPES gene to 3q23. With linkage studies in 2 large families, Harrar et al. (1995) confirmed the assignment of BPES to 3q21-q24 (lod score of 3.2 at D3S1237). </p><p>Amati et al. (1996) showed that the form of BPES associated with premature ovarian failure (type I of Zlotogora et al. (1983)) maps to 3q22-q23, the same chromosomal region as does the form without POF (type II). </p><p>Lawson et al. (1995) mapped a translocation breakpoint associated with BPES to the D3S1316-D3S1615 interval. The markers in this region were subsequently shown to lie in a different order, with the BPES locus mapping to the 1-cM D3S1576 and D3S1316 interval. Toomes and Dixon (1998) constructed a physical map, consisting of 60 YAC clones and 1 bacterial artificial chromosome, that spanned this region. YAC end isolation led to the creation of novel STSs that were used to reduce the size of the BPES critical region to a 280-kb interval, which was cloned in 2 nonchimeric YACs. </p><p>Praphanphoj et al. (2000) identified another case of BPES associated with a de novo reciprocal translocation involving 3q23. By fluorescence in situ hybridization analysis using an assortment of probes, they found that the breakpoint in their patient lay proximal to that in the patient studied by De Baere et al. (1999), within a 10.5-kb interval. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Inheritance</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>The transmission pattern of BPES in the original family described by Dimitry (1921) was consistent with autosomal dominant inheritance (Owens et al., 1960). Crisponi et al. (2001) found that BPES types I and II are autosomal dominant traits. </p><p>Nallathambi et al. (2007) and Kaur et al. (2011) described an Indian family with autosomal recessive inheritance of BPES type I and type II, respectively. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Molecular Genetics</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>By positional cloning, Crisponi et al. (2001) identified the FOXL2 gene and identified mutations resulting in truncated proteins in affected individuals with both types I and II BPES (605597.0001 and 605597.0002). Consistent with an involvement in those tissues, FOXL2 was found to be selectively expressed in the mesenchyme of developing mouse eyelids and in adult ovarian follicles; in adult humans, it appeared predominantly in the ovary. </p><p>In 2 sporadic patients and 2 families with BPES, Beysen et al. (2005) identified 4 overlapping extragenic microdeletions 230 kb upstream of the FOXL2 gene. The shortest region of deletion overlap contains several conserved nongenic sequences harboring putative transcription factor-binding sites and representing potential long-range cis-regulatory elements. Affected females in the 2 families had BPES type II; BPES type could not be assessed in the sporadic patients. In another family with BPES, Beysen et al. (2005) identified an approximately 188-kb microdeletion downstream of the FOXL2 gene. The father of the 2 affected half-sisters was unaffected, suggestive of germinal mosaicism; quantitative analysis using 3 SNPs located in the deletion showed that about 10% of paternal germ cells and 5% of somatic peripheral blood lymphocytes carried the mutation. </p><p>Vincent et al. (2005) reported an 18-month-old girl with sporadic BPES and bilateral type 1 Duane syndrome (see 126800), in whom they identified a heterozygous duplication of 10 alanine residues in the FOXL2 gene (605597.0002). </p><p>In 3 affected males and 1 affected female of a consanguineous Indian family with BPES type I, Nallathambi et al. (2007) identified a homozygous duplication in the FOXL2 gene (605597.0018), resulting in a polyalanine expansion from 14 to 19 residues (Ala19). Several unaffected relatives were heterozygous for the mutation, indicating autosomal recessive inheritance in this family. The affected 30-year-old woman had amenorrhea and impaired fertility, consistent with ovarian dysfunction. Nallathambi et al. (2007) noted that ala19 is the shortest polyalanine expansion (+5) described in the FOXL2 gene and may confer residual enzyme activity. </p><p>In an Indian cohort comprising 6 familial and 2 sporadic cases of BPES type I or type II, Kaur et al. (2011) identified 6 heterozygous mutations in the FOXL2 gene, 3 of which were novel (see, e.g., E69K; 605597.0020). In the family with BPES type II and the E69K mutation (family BPES6), some patients were heterozygous and others homozygous; patients homozygous for the mutation had more a more severe phenotype. In another family, an affected female also had polycystic ovarian disease. Kaur et al. (2011) noted that mutations in the region downstream of the forkhead domain were predominantly responsible for BPES among Indian patients. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>Animal Model</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>Using piggyBac (PB) insertional mutagenesis, Shi et al. (2014) created a line of mice with a modest yet significant reduction in Foxl2 expression. Homozygous PB/PB mice began to lose weight approximately 2 weeks after birth, and most died within the first month of life. At 3 weeks of age, they showed significant overgrowth of mandibular incisors with malocclusion, and some showed palpebral anomalies and periocular hair loss. Surviving female PB/PB mice were subfertile, with smaller than normal ovaries and uteri. Shi et al. (2014) concluded that PB/PB mice recapitulated the craniofacial and ovarian conditions of type I BPES patients. The authors mapped the PB insertion site to a region approximately 160 kb upstream of the Foxl2 transcription start site and approximately 10 kb upstream of an element, ECF1, that showed a high degree of conservation among goat, mouse, and human. ECF1 functioned as an enhancer in reporter gene assays and interacted directly with the Foxl2 promoter in chromosome conformation capture assays. Shi et al. (2014) noted that BPES patients with balanced translocations and chromosome breakpoints 130, 160, or 171 kb upstream of FOXL2 have been reported. The authors hypothesized that these translocations may isolate transcription regulatory elements, including the human ECF1 ortholog, leading to FOXL2 misregulation. </p>
</span>
<div>
<br />
</div>
<div>
<h4>
<span class="mim-font">
<strong>History</strong>
</span>
</h4>
</div>
<span class="mim-text-font">
<p>So-called 'BPES3,' which had been mapped in an Indian family to 7p, has been shown to be part of the phenotypic spectrum of Saethre-Chotzen syndrome (SCS; 101400) and to result from mutation in the TWIST1 gene (601622) on 7p21. This finding supported locus homogeneity of BPES at 3q22 (Dollfus et al., 2001). </p>
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>See Also:</strong>
</span>
</h4>
<span class="mim-text-font">
Kohn and Romano (1971); Pueschel and Barsel-Bowers (1979); Stoll et
al. (1974)
</span>
<div>
<br />
</div>
</div>
<div>
<h4>
<span class="mim-font">
<strong>REFERENCES</strong>
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<div>
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de Almeida, J. C., Llerena, J. C., Jr., Goncalves Neto, J. B., Jung, M., Martins, R. R.
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De Baere, E., Van Roy, N., Speleman, F., Fukushima, Y., De Paepe, A., Messiaen, L.
<strong>Closing in on the BPES gene on 3q23: mapping of a de novo reciprocal translocation t(3;4)(q23;p15.2) breakpoint within a 45-kb cosmid and mapping of three candidate genes, RBP1, RBP2, and beta-prime-COP, distal to the breakpoint.</strong>
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de Die-Smulders, C. E. M., Engelen, J. J. M., Donk, J. M., Fryns, J. P.
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<p class="mim-text-font">
Dimitry, T. J.
<strong>Hereditary ptosis.</strong>
Am. J. Ophthal. 4: 655-658, 1921.
</p>
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Dollfus, H., Kumaramanickavel, G., Biswas, P., Stoetzel, C., Quillet, R., Denton, M., Maw, M., Perrin-Schmitt, F.
<strong>Locus homogeneity of the familial blepharophimosis-ptosis-epicanthus syndrome (BPES) at the 3q22 locus and identification of a new TWIST mutation (7p21) with variable eyelid manifestations.</strong>
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Finley, W. H., Callahan, A., Thompson, J. N.
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Fraser, I. S., Shearman, R. P., Smith, A., Russell, P.
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Fryns, J. P., Stromme, P., van den Berghe, H.
<strong>Further evidence for the location of the blepharophimosis syndrome (BPES) at 3q22.3-q23.</strong>
Clin. Genet. 44: 149-151, 1993.
[PubMed: 8275574]
[Full Text: https://doi.org/10.1111/j.1399-0004.1993.tb03867.x]
</p>
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<li>
<p class="mim-text-font">
Fryns, J. P.
<strong>The concurrence of the blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) and Langer type of mesomelic dwarfism in the same patient: evidence of the location of Langer type of mesomelic dwarfism at 3q22.3-q23? (Letter)</strong>
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<p class="mim-text-font">
Fujita, H., Meng, J., Kawamura, M., Tozuka, N., Ishii, F., Tanaka, N.
<strong>Boy with a chromosome del(3)(q12q23) and blepharophimosis syndrome.</strong>
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Fukushima, Y., Wakui, K., Nishida, T., Ueoka, Y.
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Harrar, H. S., Jeffery, S., Patton, M. A.
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[PubMed: 8558553]
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Ishikiriyama, S., Goto, M.
<strong>Blepharophimosis sequence (BPES) and microcephaly in a girl with del(3)(q22.2q23): a putative gene responsible for microcephaly close to the BPES gene?</strong>
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[PubMed: 8256811]
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Ishikiriyama, S., Goto, M.
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Karimi-Nejad, A., Karimi-Nejad, R., Najafi, H., Karimi-Nejad, M. H.
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Kaur, I., Hussain, A., Naik, M. N., Murthy, R., Honavar, S. G.
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</p>
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<li>
<p class="mim-text-font">
Kohn, R., Romano, P. E.
<strong>Blepharoptosis, blepharophimosis, epicanthus inversus, and telecanthus--a syndrome with no name.</strong>
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</p>
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</p>
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<p class="mim-text-font">
Martsolf, J. T., Ray, M.
<strong>Interstitial deletion of the long arm of chromosome 3.</strong>
Ann. Genet. 26: 98-99, 1983.
[PubMed: 6604494]
</p>
</li>
<li>
<p class="mim-text-font">
Moraine, C., Titeca, C., Delplace, M.-P., Grenier, B., Lenoel, Y., Ribadeau-Dumas, J. L.
<strong>Blepharophimosis familial et sterilite feminine: pleiotropisme ou genes lies?</strong>
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[PubMed: 1025261]
</p>
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<li>
<p class="mim-text-font">
Nallathambi, J., Moumne, L., De Baere, E., Beysen, D., Usha, K., Sundaresan, P., Veitia, R. A.
<strong>A novel polyalanine expansion in FOXL2: the first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunction.</strong>
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