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<meta name="keywords" content="C3266076, cleft lip, cleft palate, cleft lip/palate, cleft of the mouth, congenital abnormality, oral cleft, oral clefting, orofacial cleft, orofacial clefting, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="The presence of a cleft (gap, opening, or groove) in the oral cavity, including cleft of the upper lip and/or cleft of the palate. Cleft of the upper lip is visible as a groove or fissure in the lip, most frequently due to a congenital failure of the maxillary and median nasal processes to fuse. Cleft palate is characterized by a grooved depression or fissure in the roof of the mouth, most often resulting from a congenital failure of the palate to fuse properly. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
UID=472000
ConceptID=C3266076
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Orofacial cleft</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>472000</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3266076</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
<td>Oral cleft; Orofacial clefting</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>Orofacial cleft (449790007)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related genes:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
Gene(s) associated with related conditions. For conditions<br />
in a hierarchy, the parent condition will list the genes<br />
associated with the children conditions.</div></td>
<td><a target="_blank" href="/gene/8626">TP63</a>, <a target="_blank" href="/gene/7341">SUMO1</a>, <a target="_blank" href="/gene/4487">MSX1</a>, <a target="_blank" href="/gene/3664">IRF6</a>, <a target="_blank" href="/gene/652">BMP4</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0000202">HP:0000202</a></td></tr>
<tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0000358" target="_blank">MONDO:0000358</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
<td><a href="https://omim.org/phenotypicSeries/PS119530" target="_blank">PS119530</a></td></tr>
</tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
<div class="portlet mgSection" id="ID_100">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">The presence of a cleft (gap, opening, or groove) in the oral cavity, including cleft of the upper lip and/or cleft of the palate. Cleft of the upper lip is visible as a groove or fissure in the lip, most frequently due to a congenital failure of the maxillary and median nasal processes to fuse. Cleft palate is characterized by a grooved depression or fissure in the roof of the mouth, most often resulting from a congenital failure of the palate to fuse properly. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
</div>
<div class="portlet mgSection" id="ID_118">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test,  </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test,  </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM,  </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>,  </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar  </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3266076[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=472000">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=472000" ref="ncbi_uid=472000">V</a></span></span><span class="TLline">Orofacial cleft</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=349303" target="_blank" href="/omim/119530">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=349303" ref="ncbi_uid=349303">V</a></span></span><span class="TLline"><a href="/medgen/349303" ref="tree=GTR&amp;ncbi_uid=349303&amp;link_uid=349303" title="View MedGen record for 'Orofacial cleft 1'">Orofacial cleft 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=400499" target="_blank" href="/omim/602966">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=400499" ref="ncbi_uid=400499">V</a></span></span><span class="TLline"><a href="/medgen/400499" ref="tree=GTR&amp;ncbi_uid=400499&amp;link_uid=400499" title="View MedGen record for 'Orofacial cleft 2'">Orofacial cleft 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=318860" target="_blank" href="/omim/600757">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=318860" ref="ncbi_uid=318860">V</a></span></span><span class="TLline"><a href="/medgen/318860" ref="tree=GTR&amp;ncbi_uid=318860&amp;link_uid=318860" title="View MedGen record for 'Orofacial cleft 3'">Orofacial cleft 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=331228" target="_blank" href="/omim/608371">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/331228" ref="tree=GTR&amp;ncbi_uid=331228&amp;link_uid=331228" title="View MedGen record for 'Orofacial cleft 4'">Orofacial cleft 4</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1837210[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=373280">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=373280" target="_blank" href="/omim/142983">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=373280" ref="ncbi_uid=373280">V</a></span></span><span class="TLline"><a href="/medgen/373280" ref="tree=GTR&amp;ncbi_uid=373280&amp;link_uid=373280" title="View MedGen record for 'Orofacial cleft 5'">Orofacial cleft 5</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1851878[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=377541">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=377541" target="_blank" href="/omim/603273">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK43797/" ref="ncbi_uid=377541">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=377541" ref="ncbi_uid=377541">V</a></span></span><span class="TLline"><a href="/medgen/377541" ref="tree=GTR&amp;ncbi_uid=377541&amp;link_uid=377541" title="View MedGen record for 'Orofacial cleft 8'">Orofacial cleft 8</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=332079" target="_blank" href="/omim/610361">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/332079" ref="tree=GTR&amp;ncbi_uid=332079&amp;link_uid=332079" title="View MedGen record for 'Orofacial cleft 9'">Orofacial cleft 9</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1866070[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=355621">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=355621" target="_blank" href="/omim/601912">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=355621" ref="ncbi_uid=355621">V</a></span></span><span class="TLline"><a href="/medgen/355621" ref="tree=GTR&amp;ncbi_uid=355621&amp;link_uid=355621" title="View MedGen record for 'Orofacial cleft 10'">Orofacial cleft 10</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2677434[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=436944">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=436944" target="_blank" href="/omim/112262">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=436944" ref="ncbi_uid=436944">V</a></span></span><span class="TLline"><a href="/medgen/436944" ref="tree=GTR&amp;ncbi_uid=436944&amp;link_uid=436944" title="View MedGen record for 'Orofacial cleft 11'">Orofacial cleft 11</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=411596" target="_blank" href="/omim/612858">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/411596" ref="tree=GTR&amp;ncbi_uid=411596&amp;link_uid=411596" title="View MedGen record for 'Orofacial cleft 12'">Orofacial cleft 12</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462572" target="_blank" href="/omim/613857">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=462572" ref="ncbi_uid=462572">V</a></span></span><span class="TLline"><a href="/medgen/462572" ref="tree=GTR&amp;ncbi_uid=462572&amp;link_uid=462572" title="View MedGen record for 'Orofacial cleft 13'">Orofacial cleft 13</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1837213[DISCUI]&amp;test_type=Clinical" ref="ncbi_uid=332391">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=332391" target="_blank" href="/omim/608864">O</a></span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=332391" ref="ncbi_uid=332391">V</a></span></span><span class="TLline"><a href="/medgen/332391" ref="tree=GTR&amp;ncbi_uid=332391&amp;link_uid=332391" title="View MedGen record for 'Orofacial cleft 6, susceptibility to'">Orofacial cleft 6, susceptibility to</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/867443" ref="tree=MeSH" title="MedGen record for Phenotypic abnormality">Phenotypic abnormality</a></span><ul><li><span class="TLline"><a href="/medgen/867442" ref="tree=MeSH" title="MedGen record for Abnormality of head or neck">Abnormality of head or neck</a></span><ul><li><span class="TLline"><a href="/medgen/867438" ref="tree=MeSH" title="MedGen record for Abnormality of the head">Abnormality of the head</a></span><ul><li><span class="TLline"><a href="/medgen/1853793" ref="tree=MeSH" title="MedGen record for Craniofacial cleft">Craniofacial cleft</a></span><ul><li><span class="matched_ds">Orofacial cleft</span><ul><li><span class="TLline"><a href="/medgen/488995" ref="tree=MeSH" title="MedGen record for Cleft maxillary alveolar ridge">Cleft maxillary alveolar ridge</a></span><ul><li><span class="TLline"><a href="/medgen/1379910" ref="tree=MeSH" title="MedGen record for Bilateral alveolar cleft of maxilla">Bilateral alveolar cleft of maxilla</a></span></li><li><span class="TLline"><a href="/medgen/1841954" ref="tree=MeSH" title="MedGen record for Complete cleft maxillary alveolar ridge">Complete cleft maxillary alveolar ridge</a></span></li><li><span class="TLline"><a href="/medgen/1842084" ref="tree=MeSH" title="MedGen record for Incomplete cleft maxillary alveolar ridge">Incomplete cleft maxillary alveolar ridge</a></span></li><li><span class="TLline"><a href="/medgen/1371734" ref="tree=MeSH" title="MedGen record for Unilateral alveolar cleft of maxilla">Unilateral alveolar cleft of maxilla</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/756015" ref="tree=MeSH" title="MedGen record for Cleft palate">Cleft palate</a></span><ul><li><span class="TLline"><a href="/medgen/1646931" ref="tree=MeSH" title="MedGen record for Bifid uvula">Bifid uvula</a></span></li><li><span class="TLline"><a href="/medgen/609341" ref="tree=MeSH" title="MedGen record for Cleft hard palate">Cleft hard palate</a></span><ul><li><span class="TLline"><a href="/medgen/1674652" ref="tree=MeSH" title="MedGen record for Complete cleft hard palate">Complete cleft hard palate</a></span></li><li><span class="TLline"><a href="/medgen/1841931" ref="tree=MeSH" title="MedGen record for Incomplete cleft hard palate">Incomplete cleft hard palate</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/375520" ref="tree=MeSH" title="MedGen record for Cleft palate with or without ankyloglossia, X-linked">Cleft palate with or without ankyloglossia, X-linked</a></span></li><li><span class="TLline"><a href="/medgen/98471" ref="tree=MeSH" title="MedGen record for Cleft soft palate">Cleft soft palate</a></span><ul><li><span class="TLline"><a href="/medgen/609349" ref="tree=MeSH" title="MedGen record for Complete cleft soft palate">Complete cleft soft palate</a></span></li><li><span class="TLline"><a href="/medgen/609350" ref="tree=MeSH" title="MedGen record for Incomplete cleft soft palate">Incomplete cleft soft palate</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/332392" ref="tree=MeSH" title="MedGen record for Isolated cleft palate">Isolated cleft palate</a></span></li><li><span class="TLline"><a href="/medgen/419150" ref="tree=MeSH" title="MedGen record for Kuster syndrome">Kuster syndrome</a></span></li><li><span class="TLline"><a href="/medgen/340670" ref="tree=MeSH" title="MedGen record for Median cleft palate">Median cleft palate</a></span></li><li><span class="TLline"><a href="/medgen/867753" ref="tree=MeSH" title="MedGen record for Non-midline cleft palate">Non-midline cleft palate</a></span><ul><li><span class="TLline"><a href="/medgen/765998" ref="tree=MeSH" title="MedGen record for Bilateral cleft palate">Bilateral cleft palate</a></span></li><li><span class="TLline"><a href="/medgen/867754" ref="tree=MeSH" title="MedGen record for Unilateral cleft palate">Unilateral cleft palate</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/315656" ref="tree=MeSH" title="MedGen record for Rapp-Hodgkin syndrome">Rapp-Hodgkin syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1054166" ref="tree=MeSH" title="MedGen record for Soft and hard cleft palate">Soft and hard cleft palate</a></span></li><li><span class="TLline"><a href="/medgen/98472" ref="tree=MeSH" title="MedGen record for Submucous cleft hard palate">Submucous cleft hard palate</a></span></li><li><span class="TLline"><a href="/medgen/1645448" ref="tree=MeSH" title="MedGen record for Submucous cleft palate">Submucous cleft palate</a></span><ul><li><span class="TLline"><a href="/medgen/1384667" ref="tree=MeSH" title="MedGen record for Submucous cleft of soft and hard palate">Submucous cleft of soft and hard palate</a></span></li><li><span class="TLline"><a href="/medgen/868770" ref="tree=MeSH" title="MedGen record for Submucous cleft soft palate">Submucous cleft soft palate</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/349303" ref="tree=MeSH" title="MedGen record for Orofacial cleft 1">Orofacial cleft 1</a></span></li><li><span class="TLline"><a href="/medgen/400499" ref="tree=MeSH" title="MedGen record for Orofacial cleft 2">Orofacial cleft 2</a></span></li><li><span class="TLline"><a href="/medgen/318860" ref="tree=MeSH" title="MedGen record for Orofacial cleft 3">Orofacial cleft 3</a></span></li><li><span class="TLline"><a href="/medgen/331228" ref="tree=MeSH" title="MedGen record for Orofacial cleft 4">Orofacial cleft 4</a></span></li><li><span class="TLline"><a href="/medgen/373280" ref="tree=MeSH" title="MedGen record for Orofacial cleft 5">Orofacial cleft 5</a></span></li><li><span class="TLline"><a href="/medgen/377541" ref="tree=MeSH" title="MedGen record for Orofacial cleft 8">Orofacial cleft 8</a></span></li><li><span class="TLline"><a href="/medgen/332079" ref="tree=MeSH" title="MedGen record for Orofacial cleft 9">Orofacial cleft 9</a></span></li><li><span class="TLline"><a href="/medgen/355621" ref="tree=MeSH" title="MedGen record for Orofacial cleft 10">Orofacial cleft 10</a></span></li><li><span class="TLline"><a href="/medgen/436944" ref="tree=MeSH" title="MedGen record for Orofacial cleft 11">Orofacial cleft 11</a></span></li><li><span class="TLline"><a href="/medgen/411596" ref="tree=MeSH" title="MedGen record for Orofacial cleft 12">Orofacial cleft 12</a></span></li><li><span class="TLline"><a href="/medgen/462572" ref="tree=MeSH" title="MedGen record for Orofacial cleft 13">Orofacial cleft 13</a></span></li><li><span class="TLline"><a href="/medgen/332391" ref="tree=MeSH" title="MedGen record for Orofacial cleft 6, susceptibility to">Orofacial cleft 6, susceptibility to</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
</div>
<div class="portlet mgSection" id="ID_112">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln clinfeat">
<div class="divPopper rprt" id="rdis_41345"><div><strong>5p partial monosomy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41345</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0010314</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Cri-du-chat syndrome was first described by Lejeune et al. (1963) as a hereditary congenital syndrome associated with deletion of part of the short arm of chromosome 5. The deletions can vary in size from extremely small and involving only band 5p15.2 to the entire short arm. Although the majority of deletions arise as new mutations, approximately 12% result from unbalanced segregation of translocations or recombination involving a pericentric inversion in one of the parents.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/41345">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_67392"><div><strong>Oculoauriculovertebral spectrum with radial defects</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>67392</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0220681</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A rare branchial arches and limb primordia development disorder with characteristics of variable degrees of uni or bilateral craniofacial malformation and radial defects that result in extremely variable phenotypic manifestations. Characteristic features include low postnatal weight, short stature, vertebral defects, hearing loss, and facial dysmorphism (including facial asymmetry, external, middle and inner ear malformations, orofacial clefts, and mandibular hypoplasia). These features are invariably associated with radial defects, such as preaxial polydactyly, thumb and/or radius hypoplasia/agenesis, or triphalangeal thumb. Cardiac, pulmonary, renal, and central nervous system involvement has also been reported.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/67392">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_162881"><div><strong>Smith-Magenis syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162881</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0795864</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Smith-Magenis syndrome (SMS) is characterized by distinctive physical features (particularly coarse facial features that progress with age), developmental delay, cognitive impairment, behavioral abnormalities, sleep disturbance, and childhood-onset abdominal obesity. Infants have feeding difficulties, failure to thrive, hypotonia, hyporeflexia, prolonged napping or need to be awakened for feeds, and generalized lethargy. The majority of individuals function in the mild-to-moderate range of intellectual disability. The behavioral phenotype, including significant sleep disturbance, stereotypies, and maladaptive and self-injurious behaviors, is generally not recognized until age 18 months or older and continues to change until adulthood. Sensory issues are frequently noted; these may include avoidant behavior, as well as repetitive seeking of textures, sounds, and experiences. Toileting difficulties are common. Significant anxiety is common as are problems with executive functioning, including inattention, distractibility, hyperactivity, and impulsivity. Maladaptive behaviors include frequent outbursts / temper tantrums, attention-seeking behaviors, opposition, aggression, and self-injurious behaviors including self-hitting, self-biting, skin picking, inserting foreign objects into body orifices (polyembolokoilamania), and yanking fingernails and/or toenails (onychotillomania). Among the stereotypic behaviors described, the spasmodic upper-body squeeze or "self-hug" seems to be highly associated with SMS. An underlying developmental asynchrony, specifically emotional maturity delayed beyond intellectual functioning, may also contribute to maladaptive behaviors in people with SMS.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/162881">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_162898"><div><strong>Microphthalmia, syndromic 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>162898</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C0796016</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
<div class="spaceAbove">Microphthalmia-ankyloblepharon-intellectual disability syndrome is characterized by microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. The causative gene is localized to the Xq27-q28 region. The syndrome is transmitted as an X-linked recessive trait.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/162898">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_330469"><div><strong>MMEP syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>330469</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1832440</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A congenital syndromic form of split-hand/foot malformation with features of microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/330469">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_334629"><div><strong>Chromosome 1p36 deletion syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>334629</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1842870</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The constitutional deletion of chromosome 1p36 results in a syndrome with multiple congenital anomalies and mental retardation (Shapira et al., 1997). Monosomy 1p36 is the most common terminal deletion syndrome in humans, occurring in 1 in 5,000 births (Shaffer and Lupski, 2000; Heilstedt et al., 2003).&#13; See also neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH; 616975), which shows overlapping features and is caused by heterozygous mutation in the RERE gene (605226) on proximal chromosome 1p36.&#13; See also Radio-Tartaglia syndrome (RATARS; 619312), caused by mutation in the SPEN gene (613484) on chromosome 1p36, which shows overlapping features.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/334629">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_376211"><div><strong>Waardenburg syndrome type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>376211</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1847800</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Waardenburg syndrome type I (WS1) is an auditory-pigmentary disorder comprising congenital sensorineural hearing loss and pigmentary disturbances of the iris, hair, and skin along with dystopia canthorum (lateral displacement of the inner canthi). The hearing loss in WS1, observed in approximately 60% of affected individuals, is congenital, typically non-progressive, either unilateral or bilateral, and sensorineural. Most commonly, hearing loss in WS1 is bilateral and profound (&gt;100 dB). The majority of individuals with WS1 have either a white forelock or early graying of the scalp hair before age 30 years. The classic white forelock observed in approximately 45% of individuals is the most common hair pigmentation anomaly seen in WS1. Affected individuals may have complete heterochromia iridium, partial/segmental heterochromia, or hypoplastic or brilliant blue irides. Congenital leukoderma is frequently seen on the face, trunk, or limbs.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/376211">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_340943"><div><strong>Baraitser-Winter syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340943</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1855722</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Baraitser-Winter cerebrofrontofacial (BWCFF) syndrome is a multiple congenital anomaly syndrome characterized by typical craniofacial features and intellectual disability. Many (but not all) affected individuals have pachygyria that is predominantly frontal, wasting of the shoulder girdle muscles, and sensory impairment due to iris or retinal coloboma and/or sensorineural deafness. Intellectual disability, which is common but variable, is related to the severity of the brain malformations. Seizures, congenital heart defects, renal malformations, and gastrointestinal dysfunction are also common.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/340943">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_387829"><div><strong>Craniosynostosis-intellectual disability-clefting syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>387829</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1857472</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A recessive syndrome characterized by craniosynostosis, intellectual disability, seizures, choroidal coloboma, dysplastic kidneys, bat ears, cleft lip and palate, and beaked nose.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/387829">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_341804"><div><strong>Heart defect - tongue hamartoma - polysyndactyly syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>341804</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1857587</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">A rare, genetic, multiple congenital anomalies syndrome characterized by congenital heart defects (e.g. coarctation of the aorta with or without atrioventricular canal and subaortic stenosis), associated with tongue hamartomas, postaxial hand polydactyly and toe syndactyly.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/341804">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_400232"><div><strong>ADULT syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>400232</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1863204</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The TP63-related disorders comprise six overlapping phenotypes: Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (which includes Rapp-Hodgkin syndrome). Acro-dermo-ungual-lacrimal-tooth (ADULT) syndrome. Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (EEC3). Limb-mammary syndrome. Split-hand/foot malformation type 4 (SHFM4). Isolated cleft lip/cleft palate (orofacial cleft 8). Individuals typically have varying combinations of ectodermal dysplasia (hypohidrosis, nail dysplasia, sparse hair, tooth abnormalities), cleft lip/palate, split-hand/foot malformation/syndactyly, lacrimal duct obstruction, hypopigmentation, hypoplastic breasts and/or nipples, and hypospadias. Findings associated with a single phenotype include ankyloblepharon filiforme adnatum (tissue strands that completely or partially fuse the upper and lower eyelids), skin erosions especially on the scalp associated with areas of scarring, and alopecia, trismus, and excessive freckling.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/400232">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_355304"><div><strong>Holoprosencephaly 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355304</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1864827</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Holoprosencephaly associated with mutations in the ZIC2 gene.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/355304">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_355714"><div><strong>Tricho-oculo-dermo-vertebral syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355714</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1866427</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/355714">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_408255"><div><strong>4p partial monosomy syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>408255</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1956097</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Wolf-Hirschhorn syndrome is a congenital malformation syndrome characterized by pre- and postnatal growth deficiency, developmental disability of variable degree, characteristic craniofacial features ('Greek warrior helmet' appearance of the nose, high forehead, prominent glabella, hypertelorism, high-arched eyebrows, protruding eyes, epicanthal folds, short philtrum, distinct mouth with downturned corners, and micrognathia), and a seizure disorder (Battaglia et al., 2008).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/408255">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_369356"><div><strong>Microphthalmia, isolated, with coloboma 5</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>369356</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C1968843</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the SHH gene.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/369356">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_444125"><div><strong>Gollop syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>444125</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C2931720</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">The features of frontofacionasal dysplasia include blepharophimosis, lower lid lagophthalmos, primary telecanthus, S-shaped palpebral fissures, facial hypoplasia, eyelid coloboma, widow's peak, cranium bifidum occultum, frontal lipoma, nasal hypoplasia, deformed nostrils, bifid nose, and cleft of lip, premaxilla, palate, and uvula (White et al., 1991). Also see frontonasal dysplasia (136760).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/444125">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_482865"><div><strong>Baraitser-winter syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482865</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3281235</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Baraitser-Winter cerebrofrontofacial (BWCFF) syndrome is a multiple congenital anomaly syndrome characterized by typical craniofacial features and intellectual disability. Many (but not all) affected individuals have pachygyria that is predominantly frontal, wasting of the shoulder girdle muscles, and sensory impairment due to iris or retinal coloboma and/or sensorineural deafness. Intellectual disability, which is common but variable, is related to the severity of the brain malformations. Seizures, congenital heart defects, renal malformations, and gastrointestinal dysfunction are also common.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/482865">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_816505"><div><strong>Short-rib thoracic dysplasia 10 with or without polydactyly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>816505</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C3810175</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).&#13; There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330).&#13; For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (208500).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/816505">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1641736"><div><strong>Autosomal dominant Robinow syndrome 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1641736</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C4551475</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Autosomal dominant Robinow syndrome (ADRS) is characterized by skeletal findings (short stature, mesomelic limb shortening predominantly of the upper limbs, and brachydactyly), genital abnormalities (in males: micropenis / webbed penis, hypoplastic scrotum, cryptorchidism; in females: hypoplastic clitoris and labia majora), dysmorphic facial features (widely spaced and prominent eyes, frontal bossing, anteverted nares, midface retrusion), dental abnormalities (including malocclusion, crowding, hypodontia, late eruption of permanent teeth), bilobed tongue, and occasional prenatal macrocephaly that persists postnatally. Less common findings include renal anomalies, radial head dislocation, vertebral abnormalities such as hemivertebrae and scoliosis, nail dysplasia, cardiac defects, cleft lip/palate, and (rarely) cognitive delay. When present, cardiac defects are a major cause of morbidity and mortality. A variant of Robinow syndrome, associated with osteosclerosis and caused by a heterozygous pathogenic variant in DVL1, is characterized by normal stature, persistent macrocephaly, increased bone mineral density with skull osteosclerosis, and hearing loss, in addition to the typical features described above.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1641736">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1718072"><div><strong>Sandestig-stefanova syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1718072</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5394118</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Sandestig-Stefanova syndrome (SANDSTEF) is an autosomal recessive developmental syndrome characterized by pre- and postnatal microcephaly, trigonocephaly, congenital cataract, microphthalmia, facial gestalt, camptodactyly, loss of periventricular white matter, thin corpus callosum, delayed myelinization, and poor prognosis (Sandestig et al., 2019).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1718072">Condition Record</a></div></div>
<div class="divPopper rprt" id="rdis_1770070"><div><strong>Autosomal recessive Robinow syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1770070</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS)&#10;Click for more information.">C5399974</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">ROR2-related Robinow syndrome is characterized by distinctive craniofacial features, skeletal abnormalities, and other anomalies. Craniofacial features include macrocephaly, broad prominent forehead, low-set ears, ocular hypertelorism, prominent eyes, midface hypoplasia, short upturned nose with depressed nasal bridge and flared nostrils, large and triangular mouth with exposed incisors and upper gums, gum hypertrophy, misaligned teeth, ankyloglossia, and micrognathia. Skeletal abnormalities include short stature, mesomelic or acromesomelic limb shortening, hemivertebrae with fusion of thoracic vertebrae, and brachydactyly. Other common features include micropenis with or without cryptorchidism in males and reduced clitoral size and hypoplasia of the labia majora in females, renal tract abnormalities, and nail hypoplasia or dystrophy. The disorder is recognizable at birth or in early childhood.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1770070">Condition Record</a></div></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_408255" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">4p partial monosomy syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_41345" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">5p partial monosomy syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_400232" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">ADULT syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1641736" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant Robinow syndrome 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1770070" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive Robinow syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (21)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_340943" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Baraitser-Winter syndrome 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_482865" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Baraitser-winter syndrome 2</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_334629" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Chromosome 1p36 deletion syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_387829" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Craniosynostosis-intellectual disability-clefting syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_444125" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gollop syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_341804" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Heart defect - tongue hamartoma - polysyndactyly syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355304" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Holoprosencephaly 5</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_369356" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microphthalmia, isolated, with coloboma 5</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162898" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microphthalmia, syndromic 1</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_330469" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">MMEP syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_67392" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Oculoauriculovertebral spectrum with radial defects</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1718072" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sandestig-stefanova syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_816505" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Short-rib thoracic dysplasia 10 with or without polydactyly</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_162881" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Smith-Magenis syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_355714" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tricho-oculo-dermo-vertebral syndrome</a></div>
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_376211" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Waardenburg syndrome type 1</a></div></span></div></div>
</div>
<div class="portlet mgSection" id="ID_105">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
<div class="nl"><a target="_blank" href="/pubmed/37349453">Global perspectives in orofacial cleft management and research.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mossey PA</span><br />
<span class="medgenPMjournal">Br Dent J</span>
2023 Jun;234(12):953-957.
Epub 2023 Jun 23
doi: 10.1038/s41415-023-5993-4.
<span class="bold">PMID: </span><a href="/pubmed/37349453" target="_blank">37349453</a></div>
<div class="nl"><a target="_blank" href="/pubmed/36700568">Prenatal diagnosis of orofacial clefts: unveiling the parents' experience.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Silva VAPD,
Gifalli M,
Capone FA,
Farinha FT,
Prado PC,
Trettene ADS</span><br />
<span class="medgenPMjournal">Rev Paul Pediatr</span>
2023;41:e2022004.
Epub 2023 Jan 20
doi: 10.1590/1984-0462/2023/41/2022004.
<span class="bold">PMID: </span><a href="/pubmed/36700568" target="_blank">36700568</a><a href="/pmc/articles/PMC9869735" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22759675">Orthodontic treatment in the management of cleft lip and palate.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cash AC</span><br />
<span class="medgenPMjournal">Front Oral Biol</span>
2012;16:111-23.
Epub 2012 Jun 25
doi: 10.1159/000337665.
<span class="bold">PMID: </span><a href="/pubmed/22759675" target="_blank">22759675</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22orofacial%20cleft%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (22)</a></div></div>
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<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
<div class="portlet mgSection" id="ID_103">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
<div class="nl"><a target="_blank" href="/pubmed/38529886">DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lavillaureix A,
Rollier P,
Kim A,
Panasenkava V,
De Tayrac M,
Carré W,
Guyodo H,
Faoucher M,
Poirel E,
Akloul L,
Quélin C,
Whalen S,
Bos J,
Broekema M,
van Hagen JM,
Grand K,
Allen-Sharpley M,
Magness E,
McLean SD,
Kayserili H,
Altunoglu U,
En Qi Chong A,
Xue S,
Jeanne M,
Almontashiri N,
Habhab W,
Vanlerberghe C,
Faivre L,
Viora-Dupont E,
Philippe C,
Safraou H,
Laffargue F,
Mittendorf L,
Abou Jamra R,
Patil SJ,
Dalal A,
Sarma AS,
Keren B,
Reversade B,
Dubourg C,
Odent S,
Dupé V</span><br />
<span class="medgenPMjournal">Genet Med</span>
2024 Jul;26(7):101126.
Epub 2024 Mar 24
doi: 10.1016/j.gim.2024.101126.
<span class="bold">PMID: </span><a href="/pubmed/38529886" target="_blank">38529886</a></div>
<div class="nl"><a target="_blank" href="/pubmed/33147056">Nonsyndromic orofacial clefts in Chile: LINE-1 methylation and MTHFR variants.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cáceres-Rojas G,
Salamanca C,
Krause BJ,
Recabarren AS,
Recabarren PA,
Pantoja R,
Leiva N,
Pardo R,
Santos JL,
Suazo J</span><br />
<span class="medgenPMjournal">Epigenomics</span>
2020 Oct;12(20):1783-1791.
Epub 2020 Nov 4
doi: 10.2217/epi-2020-0021.
<span class="bold">PMID: </span><a href="/pubmed/33147056" target="_blank">33147056</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32031521">Analysis of zebrafish periderm enhancers facilitates identification of a regulatory variant near human KRT8/18.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Liu H,
Duncan K,
Helverson A,
Kumari P,
Mumm C,
Xiao Y,
Carlson JC,
Darbellay F,
Visel A,
Leslie E,
Breheny P,
Erives AJ,
Cornell RA</span><br />
<span class="medgenPMjournal">Elife</span>
2020 Feb 7;9
doi: 10.7554/eLife.51325.
<span class="bold">PMID: </span><a href="/pubmed/32031521" target="_blank">32031521</a><a href="/pmc/articles/PMC7039683" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31784293">Feeding problems and gastrointestinal diseases in Down syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ravel A,
Mircher C,
Rebillat AS,
Cieuta-Walti C,
Megarbane A</span><br />
<span class="medgenPMjournal">Arch Pediatr</span>
2020 Jan;27(1):53-60.
Epub 2019 Nov 26
doi: 10.1016/j.arcped.2019.11.008.
<span class="bold">PMID: </span><a href="/pubmed/31784293" target="_blank">31784293</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28795449">Zebrafish models of orofacial clefts.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Duncan KM,
Mukherjee K,
Cornell RA,
Liao EC</span><br />
<span class="medgenPMjournal">Dev Dyn</span>
2017 Nov;246(11):897-914.
Epub 2017 Sep 25
doi: 10.1002/dvdy.24566.
<span class="bold">PMID: </span><a href="/pubmed/28795449" target="_blank">28795449</a><a href="/pmc/articles/PMC5777297" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Orofacial%20cleft%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (419)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/35055138">Orofacial Cleft and Mandibular Prognathism-Human Genetics and Animal Models.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Jaruga A,
Ksiazkiewicz J,
Kuzniarz K,
Tylzanowski P</span><br />
<span class="medgenPMjournal">Int J Mol Sci</span>
2022 Jan 16;23(2)
doi: 10.3390/ijms23020953.
<span class="bold">PMID: </span><a href="/pubmed/35055138" target="_blank">35055138</a><a href="/pmc/articles/PMC8779325" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31784293">Feeding problems and gastrointestinal diseases in Down syndrome.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Ravel A,
Mircher C,
Rebillat AS,
Cieuta-Walti C,
Megarbane A</span><br />
<span class="medgenPMjournal">Arch Pediatr</span>
2020 Jan;27(1):53-60.
Epub 2019 Nov 26
doi: 10.1016/j.arcped.2019.11.008.
<span class="bold">PMID: </span><a href="/pubmed/31784293" target="_blank">31784293</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31679595">Paramedian Orofacial Cleft.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Society for Maternal-Fetal Medicine,
Benacerraf BR,
Bromley B,
Jelin AC</span><br />
<span class="medgenPMjournal">Am J Obstet Gynecol</span>
2019 Nov;221(5):B8-B12.
doi: 10.1016/j.ajog.2019.08.050.
<span class="bold">PMID: </span><a href="/pubmed/31679595" target="_blank">31679595</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28845624">Prenatal Treatment with Dexamethasone in Suspected Congenital Adrenal Hyperplasia and Orofacial Cleft: a Case Report and Review of the Literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rijk Y,
van Alfen-van der Velden J,
Claahsen-van der Grinten HL</span><br />
<span class="medgenPMjournal">Pediatr Endocrinol Rev</span>
2017 Sep;15(1):21-25.
doi: 10.17458/per.vol15.2017.rvc.prenataltreatment.
<span class="bold">PMID: </span><a href="/pubmed/28845624" target="_blank">28845624</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26346622">IRF6 mutation screening in non-syndromic orofacial clefting: analysis of 1521 families.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Leslie EJ,
Koboldt DC,
Kang CJ,
Ma L,
Hecht JT,
Wehby GL,
Christensen K,
Czeizel AE,
Deleyiannis FW,
Fulton RS,
Wilson RK,
Beaty TH,
Schutte BC,
Murray JC,
Marazita ML</span><br />
<span class="medgenPMjournal">Clin Genet</span>
2016 Jul;90(1):28-34.
Epub 2015 Oct 1
doi: 10.1111/cge.12675.
<span class="bold">PMID: </span><a href="/pubmed/26346622" target="_blank">26346622</a><a href="/pmc/articles/PMC4783275" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Orofacial%20cleft%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (140)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/39497332">Low-Dose Cone-Beam Computed Tomography in Swedish Pediatric Patients With Alveolar Clefts Following Alveolar Bone Grafting-A Clinical Study.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Vicente A,
Cederhag J,
Rashidi N,
Wiedel AP,
Becker M,
Brogårdh-Roth S,
Shi XQ,
Hellén-Halme K</span><br />
<span class="medgenPMjournal">Clin Exp Dent Res</span>
2024 Dec;10(6):e70021.
doi: 10.1002/cre2.70021.
<span class="bold">PMID: </span><a href="/pubmed/39497332" target="_blank">39497332</a><a href="/pmc/articles/PMC11534651" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/38807406">OVERVIEW OF DRUG-INDUCED OROFACIAL CLEFT.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Saarti M,
Mahmood M,
Alchalaby L</span><br />
<span class="medgenPMjournal">Georgian Med News</span>
2024 Mar;(348):128-131.
<span class="bold">PMID: </span><a href="/pubmed/38807406" target="_blank">38807406</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34569861">Maternal Cigarette Smoking and Cleft Lip and Palate: A Systematic Review and Meta-Analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fell M,
Dack K,
Chummun S,
Sandy J,
Wren Y,
Lewis S</span><br />
<span class="medgenPMjournal">Cleft Palate Craniofac J</span>
2022 Sep;59(9):1185-1200.
Epub 2021 Sep 27
doi: 10.1177/10556656211040015.
<span class="bold">PMID: </span><a href="/pubmed/34569861" target="_blank">34569861</a><a href="/pmc/articles/PMC9411693" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28845624">Prenatal Treatment with Dexamethasone in Suspected Congenital Adrenal Hyperplasia and Orofacial Cleft: a Case Report and Review of the Literature.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rijk Y,
van Alfen-van der Velden J,
Claahsen-van der Grinten HL</span><br />
<span class="medgenPMjournal">Pediatr Endocrinol Rev</span>
2017 Sep;15(1):21-25.
doi: 10.17458/per.vol15.2017.rvc.prenataltreatment.
<span class="bold">PMID: </span><a href="/pubmed/28845624" target="_blank">28845624</a></div>
<div class="nl"><a target="_blank" href="/pubmed/18038944">Food fortification with folic acid: has the other shoe dropped?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Solomons NW</span><br />
<span class="medgenPMjournal">Nutr Rev</span>
2007 Nov;65(11):512-5.
doi: 10.1111/j.1753-4887.2007.tb00276.x.
<span class="bold">PMID: </span><a href="/pubmed/18038944" target="_blank">18038944</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Orofacial%20cleft%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (105)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/32031521">Analysis of zebrafish periderm enhancers facilitates identification of a regulatory variant near human KRT8/18.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Liu H,
Duncan K,
Helverson A,
Kumari P,
Mumm C,
Xiao Y,
Carlson JC,
Darbellay F,
Visel A,
Leslie E,
Breheny P,
Erives AJ,
Cornell RA</span><br />
<span class="medgenPMjournal">Elife</span>
2020 Feb 7;9
doi: 10.7554/eLife.51325.
<span class="bold">PMID: </span><a href="/pubmed/32031521" target="_blank">32031521</a><a href="/pmc/articles/PMC7039683" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31679595">Paramedian Orofacial Cleft.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Society for Maternal-Fetal Medicine,
Benacerraf BR,
Bromley B,
Jelin AC</span><br />
<span class="medgenPMjournal">Am J Obstet Gynecol</span>
2019 Nov;221(5):B8-B12.
doi: 10.1016/j.ajog.2019.08.050.
<span class="bold">PMID: </span><a href="/pubmed/31679595" target="_blank">31679595</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28767323">Candidate Genes for Nonsyndromic Cleft Palate Detected by Exome Sequencing.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hoebel AK,
Drichel D,
van de Vorst M,
Böhmer AC,
Sivalingam S,
Ishorst N,
Klamt J,
Gölz L,
Alblas M,
Maaser A,
Keppler K,
Zink AM,
Dixon MJ,
Dixon J,
Hemprich A,
Kruse T,
Graf I,
Dunsche A,
Schmidt G,
Daratsianos N,
Nowak S,
Aldhorae KA,
Nöthen MM,
Knapp M,
Thiele H,
Gilissen C,
Reutter H,
Hoischen A,
Mangold E,
Ludwig KU</span><br />
<span class="medgenPMjournal">J Dent Res</span>
2017 Oct;96(11):1314-1321.
Epub 2017 Aug 2
doi: 10.1177/0022034517722761.
<span class="bold">PMID: </span><a href="/pubmed/28767323" target="_blank">28767323</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27456059">Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Pengelly RJ,
Arias L,
Martínez J,
Upstill-Goddard R,
Seaby EG,
Gibson J,
Ennis S,
Collins A,
Briceño I</span><br />
<span class="medgenPMjournal">Sci Rep</span>
2016 Jul 26;6:30457.
doi: 10.1038/srep30457.
<span class="bold">PMID: </span><a href="/pubmed/27456059" target="_blank">27456059</a><a href="/pmc/articles/PMC4960602" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24377609">A novel heterozygous mutation (F252Y) in exon 7 of the IRF6 gene is associated with oral squamous cell carcinomas.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Melath A,
Santhakumar GK,
Madhavannair SS,
Nedumgottil BM,
Ramanathan A</span><br />
<span class="medgenPMjournal">Asian Pac J Cancer Prev</span>
2013;14(11):6803-6.
doi: 10.7314/apjcp.2013.14.11.6803.
<span class="bold">PMID: </span><a href="/pubmed/24377609" target="_blank">24377609</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Orofacial%20cleft%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (94)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/35166390">Neurodevelopmental trajectories in children with cleft lip and palate: A longitudinal study based on the Japan Environment and Children's Study.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Tsuchiya S,
Tsuchiya M,
Momma H,
Aida J,
Nagatomi R,
Yaegashi N,
Arima T,
Igarashi K;
Japan Environment and Children's Study Group</span><br />
<span class="medgenPMjournal">Eur J Oral Sci</span>
2022 Apr;130(2):e12857.
Epub 2022 Feb 15
doi: 10.1111/eos.12857.
<span class="bold">PMID: </span><a href="/pubmed/35166390" target="_blank">35166390</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34569861">Maternal Cigarette Smoking and Cleft Lip and Palate: A Systematic Review and Meta-Analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fell M,
Dack K,
Chummun S,
Sandy J,
Wren Y,
Lewis S</span><br />
<span class="medgenPMjournal">Cleft Palate Craniofac J</span>
2022 Sep;59(9):1185-1200.
Epub 2021 Sep 27
doi: 10.1177/10556656211040015.
<span class="bold">PMID: </span><a href="/pubmed/34569861" target="_blank">34569861</a><a href="/pmc/articles/PMC9411693" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/32031521">Analysis of zebrafish periderm enhancers facilitates identification of a regulatory variant near human KRT8/18.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Liu H,
Duncan K,
Helverson A,
Kumari P,
Mumm C,
Xiao Y,
Carlson JC,
Darbellay F,
Visel A,
Leslie E,
Breheny P,
Erives AJ,
Cornell RA</span><br />
<span class="medgenPMjournal">Elife</span>
2020 Feb 7;9
doi: 10.7554/eLife.51325.
<span class="bold">PMID: </span><a href="/pubmed/32031521" target="_blank">32031521</a><a href="/pmc/articles/PMC7039683" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/28767323">Candidate Genes for Nonsyndromic Cleft Palate Detected by Exome Sequencing.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Hoebel AK,
Drichel D,
van de Vorst M,
Böhmer AC,
Sivalingam S,
Ishorst N,
Klamt J,
Gölz L,
Alblas M,
Maaser A,
Keppler K,
Zink AM,
Dixon MJ,
Dixon J,
Hemprich A,
Kruse T,
Graf I,
Dunsche A,
Schmidt G,
Daratsianos N,
Nowak S,
Aldhorae KA,
Nöthen MM,
Knapp M,
Thiele H,
Gilissen C,
Reutter H,
Hoischen A,
Mangold E,
Ludwig KU</span><br />
<span class="medgenPMjournal">J Dent Res</span>
2017 Oct;96(11):1314-1321.
Epub 2017 Aug 2
doi: 10.1177/0022034517722761.
<span class="bold">PMID: </span><a href="/pubmed/28767323" target="_blank">28767323</a></div>
<div class="nl"><a target="_blank" href="/pubmed/9722939">Suggestive linkage between markers on chromosome 19q13.2 and nonsyndromic orofacial cleft malformation.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Martinelli M,
Scapoli L,
Pezzetti F,
Carinci F,
Carinci P,
Baciliero U,
Padula E,
Tognon M</span><br />
<span class="medgenPMjournal">Genomics</span>
1998 Jul 15;51(2):177-81.
doi: 10.1006/geno.1998.5384.
<span class="bold">PMID: </span><a href="/pubmed/9722939" target="_blank">9722939</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Orofacial%20cleft%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (187)</a></div></div>
</div>
<div class="portlet mgSection" id="ID_104">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln">
<div class="nl"><a target="_blank" href="/pubmed/36130097">The Periodontal Status of Orofacial Cleft Patients: A Systematic Review and Meta-Analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Sahni V,
Grover V,
Sood S,
Jain A</span><br />
<span class="medgenPMjournal">Cleft Palate Craniofac J</span>
2024 Feb;61(2):302-318.
Epub 2022 Sep 21
doi: 10.1177/10556656221127549.
<span class="bold">PMID: </span><a href="/pubmed/36130097" target="_blank">36130097</a></div>
<div class="nl"><a target="_blank" href="/pubmed/35254151">Childhood Experiences and Perspectives of Individuals With Orofacial Clefts: A Qualitative Systematic Review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Jensen ED,
Poirier BF,
Oliver KJ,
Roberts R,
Anderson PJ,
Jamieson LM</span><br />
<span class="medgenPMjournal">Cleft Palate Craniofac J</span>
2023 Jul;60(7):888-899.
Epub 2022 Mar 7
doi: 10.1177/10556656221084542.
<span class="bold">PMID: </span><a href="/pubmed/35254151" target="_blank">35254151</a></div>
<div class="nl"><a target="_blank" href="/pubmed/34569861">Maternal Cigarette Smoking and Cleft Lip and Palate: A Systematic Review and Meta-Analysis.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Fell M,
Dack K,
Chummun S,
Sandy J,
Wren Y,
Lewis S</span><br />
<span class="medgenPMjournal">Cleft Palate Craniofac J</span>
2022 Sep;59(9):1185-1200.
Epub 2021 Sep 27
doi: 10.1177/10556656211040015.
<span class="bold">PMID: </span><a href="/pubmed/34569861" target="_blank">34569861</a><a href="/pmc/articles/PMC9411693" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31479540">miRNAs as biomarkers of orofacial clefts: A systematic review.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Mendes SMDA,
Espinosa DDSG,
Moreira PEO,
Marques D,
Fagundes NCF,
Ribeiro-Dos-Santos Â</span><br />
<span class="medgenPMjournal">J Oral Pathol Med</span>
2020 Mar;49(3):201-209.
Epub 2019 Sep 17
doi: 10.1111/jop.12950.
<span class="bold">PMID: </span><a href="/pubmed/31479540" target="_blank">31479540</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27699475">Tooth agenesis and orofacial clefting: genetic brothers in arms?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Phan M,
Conte F,
Khandelwal KD,
Ockeloen CW,
Bartzela T,
Kleefstra T,
van Bokhoven H,
Rubini M,
Zhou H,
Carels CE</span><br />
<span class="medgenPMjournal">Hum Genet</span>
2016 Dec;135(12):1299-1327.
Epub 2016 Oct 3
doi: 10.1007/s00439-016-1733-z.
<span class="bold">PMID: </span><a href="/pubmed/27699475" target="_blank">27699475</a><a href="/pmc/articles/PMC5065589" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Orofacial%20cleft%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (27)</a></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<div class="portlet mgSection" id="ID_113">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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<div class="portlet mgSection" id="ID_106">
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3266076%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (24)</a></li>
<li><a href="/gtr/tests?term=C3266076%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (24)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3266076%5bDISCUI%5d" target="_blank">See all (24)</a></total></li>
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/phenotypicSeries/PS119530" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Orofacial%20cleft" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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