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<meta name="keywords" content="C4551864, cleft lip and/or palate with mucous cysts of lower lip, disease or syndrome, irf6, irf6 van der woude syndrome, lip-pit syndrome, van der woude syndrome 1, van der woude syndrome caused by mutation in irf6, van der woude syndrome type 1, vdws, vws1, 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="Most commonly, IRF6-related disorders span a spectrum from isolated cleft lip and palate and Van der Woude syndrome (VWS) at the mild end to popliteal pterygium syndrome (PPS) at the more severe end. In rare instances, IRF6 pathogenic variants have also been reported in individuals with nonsyndromic orofacial cleft (18/3,811; 0.47%) and in individuals with spina bifida (2/192). Individuals with VWS show one or more of the following anomalies: Congenital, usually bilateral, paramedian lower-lip fistulae (pits) or sometimes small mounds with a sinus tract leading from a mucous gland of the lip. Cleft lip (CL). Cleft palate (CP). Note: Cleft lip with or without cleft palate (CL±P) is observed about twice as often as CP only. Submucous cleft palate (SMCP). The PPS phenotype includes the following: CL±P. Fistulae of the lower lip. Webbing of the skin extending from the ischial tuberosities to the heels. In males: bifid scrotum and cryptorchidism. In females: hypoplasia of the labia majora. Syndactyly of fingers and/or toes. Anomalies of the skin around the nails. A characteristic pyramidal fold of skin overlying the nail of the hallux (almost pathognomonic). In some nonclassic forms of PPS: filiform synechiae connecting the upper and lower jaws (syngnathia) or the upper and lower eyelids (ankyloblepharon). Other musculoskeletal anomalies may include spina bifida occulta, talipes equinovarus, digital reduction, bifid ribs, and short sternum. In VWS, PPS, IRF6-related neural tube defect, and IRF6-related orofacial cleft, growth and intelligence are typical." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=1640616
|
||
ConceptID=C4551864
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Van der Woude syndrome 1<span class="h1sub">(VWS1)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1640616</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) Click for more information."><span class="highlight" style="background-color:">C4551864</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>CLEFT LIP AND/OR PALATE WITH MUCOUS CYSTS OF LOWER LIP</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="IRF6 - ID: 3664 - NCBI Gene" href="/gene/3664" class="medgenPMinfo">IRF6</a> (1q32.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0007333" target="_blank">MONDO:0007333</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/119300" target="_blank">119300</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_101">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1407" target="_blank">IRF6-Related Disorders</a></div><div>Most commonly, IRF6-related disorders span a spectrum from isolated cleft lip and palate and Van der Woude syndrome (VWS) at the mild end to popliteal pterygium syndrome (PPS) at the more severe end. In rare instances, IRF6 pathogenic variants have also been reported in individuals with nonsyndromic orofacial cleft (18/3,811; 0.47%) and in individuals with spina bifida (2/192). Individuals with VWS show one or more of the following anomalies: Congenital, usually bilateral, paramedian lower-lip fistulae (pits) or sometimes small mounds with a sinus tract leading from a mucous gland of the lip. Cleft lip (CL). Cleft palate (CP). Note: Cleft lip with or without cleft palate (CL±P) is observed about twice as often as CP only. Submucous cleft palate (SMCP). The PPS phenotype includes the following: CL±P. Fistulae of the lower lip. Webbing of the skin extending from the ischial tuberosities to the heels. In males: bifid scrotum and cryptorchidism. In females: hypoplasia of the labia majora. Syndactyly of fingers and/or toes. Anomalies of the skin around the nails. A characteristic pyramidal fold of skin overlying the nail of the hallux (almost pathognomonic). In some nonclassic forms of PPS: filiform synechiae connecting the upper and lower jaws (syngnathia) or the upper and lower eyelids (ankyloblepharon). Other musculoskeletal anomalies may include spina bifida occulta, talipes equinovarus, digital reduction, bifid ribs, and short sternum. In VWS, PPS, IRF6-related neural tube defect, and IRF6-related orofacial cleft, growth and intelligence are typical. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1407#vws.Summary" target="NBK1407">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1407#vws.GeneReview_Scope" target="NBK1407">GeneReview Scope</a> | <a class="medgenPMinfo" href="/books/NBK1407#vws.Diagnosis" target="NBK1407">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1407#vws.Clinical_Characteristics" target="NBK1407">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1407#vws.Genetically_Related_Allelic_Disorder" target="NBK1407">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1407#vws.Differential_Diagnosis" target="NBK1407">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1407#vws.Management" target="NBK1407">Management</a> | <a class="medgenPMinfo" href="/books/NBK1407#vws.Genetic_Counseling" target="NBK1407">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1407#vws.Resources" target="NBK1407">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1407#vws.Molecular_Genetics" target="NBK1407">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1407#vws.Chapter_Notes" target="NBK1407">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1407#vws.References" target="NBK1407">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Brian C Schutte | Howard M Saal | Steven Goudy<i>, et. al.</i> <a href="/books/NBK1407" target="NBK1407" title="NCBI Bookshelf: IRF6-Related Disorders">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Van der Woude syndrome (VWS) is a dominantly inherited developmental disorder characterized by pits and/or sinuses of the lower lip, and cleft lip and/or cleft palate (CL/P, CP). It is the most common cleft syndrome.
|
||
Genetic Heterogeneity of van der Woude Syndrome
|
||
Also see VWS2 (606713), caused by mutation in the GRHL3 gene (608317) on chromosome 1p36. <a target="_blank" href="http://www.omim.org/entry/119300">http://www.omim.org/entry/119300</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Van der Woude syndrome is a condition that affects the development of the face. Many people with this disorder are born with either a cleft lip or a cleft palate (an opening in the upper lip or roof of the mouth), or both. Affected individuals usually have depressions (pits) near the center of the lower lip, which may appear moist due to the presence of salivary and mucous glands in the pits. Small mounds of tissue on the lower lip may also occur. In some cases, people with van der Woude syndrome have missing teeth.<br /><br />People with van der Woude syndrome who have cleft lip and/or palate, like other individuals with these facial conditions, have an increased risk of delayed language development, learning disabilities, or other mild cognitive problems. The average IQ of individuals with van der Woude syndrome is not significantly different from that of the general population. <a target="_blank" href="https://medlineplus.gov/genetics/condition/van-der-woude-syndrome">https://medlineplus.gov/genetics/condition/van-der-woude-syndrome</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_40327"><div><strong>Cleft upper lip</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>40327</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) Click for more information.">C0008924</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/40327">Feature record</a> | <a href="/medgen?term=%22Cleft%20upper%20lip%22%5BClinical%20Features%5D%20OR%2040327%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_43794"><div><strong>Hypodontia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>43794</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) Click for more information.">C0020608</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Tooth agenesis in some form is a common human anomaly that affects approximately 20% of the population. Although tooth agenesis is associated with numerous syndromes, several case reports describe nonsyndromic forms that are either sporadic or familial in nature, as reviewed by Gorlin et al. (1990). The incidence of familial tooth agenesis varies with each class of teeth. Most commonly affected are third molars (wisdom teeth), followed by either upper lateral incisors or lower second premolars; agenesis involving first and second molars is very rare. Also see 114600 and 302400. Selective tooth agenesis without associated systemic disorders has sometimes been divided into 2 types: oligodontia, defined as agenesis of 6 or more permanent teeth, and hypodontia, defined as agenesis of less than 6 teeth. The number in both cases does not include absence of third molars (wisdom teeth). Faulty use of the terms, however, have confounded their use. The term 'partial anodontia' is obsolete (Salinas, 1978). Genetic Heterogeneity of Selective Tooth Agenesis Other forms of selective tooth agenesis include STHAG2 (602639), mapped to chromosome 16q12; STHAG3 (604625), caused by mutation in the PAX9 gene (167416) on chromosome 14q12; STHAG4 (150400), caused by mutation in the WNT10A gene (606268) on chromosome 2q35; STHAG5 (610926), mapped to chromosome 10q11; STHAG7 (616724), caused by mutation in the LRP6 gene (603507) on chromosome 12p13; STHAG8 (617073), caused by mutation in the WNT10B gene (601906) on chromosome 12q13; STHAG9 (617275), caused by mutation in the GREM2 gene (608832) on chromosome 1q43; STHAG10 (620173), caused by mutation in the TSPEAR gene (612920) on chromosome 21q22; and STHAGX1 (313500), caused by mutation in the EDA gene (300451) on chromosome Xq13. A type of selective tooth agenesis that was formerly designated STHAG6 has been incorporated into the dental anomalies and short stature syndrome (DASS; 601216). Of 34 unrelated patients with nonsyndromic tooth agenesis, van den Boogaard et al. (2012) found that 56% (19 patients) had mutations in the WNT10A gene (STHAG4), whereas only 3% and 9% had mutations in the MSX1 (STHAG1) and PAX9 (STHAG3) genes, respectively. The authors concluded that WNT10A is a major gene in the etiology of isolated hypodontia. Genotype-Phenotype Correlations Yu et al. (2016) observed that the most frequently missing permanent teeth in WNT10B-associated oligodontia were the lateral incisors (83.3%), whereas premolars were missing only 51.4% of the time, which they noted was a pattern 'clearly different' from the oligodontia patterns resulting from WNT10A mutations. They also stated that the selective pattern in WNT10B mutants was different from that associated with mutations in other genes, such as MSX1, in which second premolars are missing, and PAX9, in which there is agenesis of molars.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/43794">Feature record</a> | <a href="/medgen?term=%22Hypodontia%22%5BClinical%20Features%5D%20OR%2043794%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_756015"><div><strong>Cleft palate</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>756015</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) Click for more information.">C2981150</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/756015">Feature record</a> | <a href="/medgen?term=%22Cleft%20palate%22%5BClinical%20Features%5D%20OR%20756015%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1646931"><div><strong>Bifid uvula</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1646931</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) Click for more information.">C4551488</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Uvula separated into two parts most easily seen at the tip.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1646931">Feature record</a> | <a href="/medgen?term=%22Bifid%20uvula%22%5BClinical%20Features%5D%20OR%201646931%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_396160"><div><strong>Lower lip pit</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>396160</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) Click for more information.">C1861544</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Depression located on the vermilion of the lower lip, usually paramedian.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/396160">Feature record</a> | <a href="/medgen?term=%22Lower%20lip%20pit%22%5BClinical%20Features%5D%20OR%20396160%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1646931" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bifid uvula</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_756015" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cleft palate</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_40327" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cleft upper lip</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_43794" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypodontia</a></span></li></ul></li><li><span class="TLline">Abnormality of the integument</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_396160" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lower lip pit</a></span></li></ul></li></ul></div></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="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0175697[DISCUI]&test_type=Clinical" ref="ncbi_uid=61233">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=61233" target="_blank" href="/omim/119300">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&from_uid=61233" ref="ncbi_uid=61233">V</a></span></span><span class="TLline"><a href="/medgen/61233" ref="tree=GTR&ncbi_uid=61233&link_uid=61233" title="View MedGen record for 'Van der Woude syndrome'">Van der Woude syndrome</a></span><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4551864[DISCUI]&test_type=Clinical" ref="ncbi_uid=1640616">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1640616" target="_blank" href="/omim/119300">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1407/" ref="ncbi_uid=1640616">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1640616" ref="ncbi_uid=1640616">V</a></span></span><span class="TLline">Van der Woude syndrome 1</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1847604[DISCUI]&test_type=Clinical" ref="ncbi_uid=338272">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=338272" target="_blank" href="/omim/606713">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&from_uid=338272" ref="ncbi_uid=338272">V</a></span></span><span class="TLline"><a href="/medgen/338272" ref="tree=GTR&ncbi_uid=338272&link_uid=338272" title="View MedGen record for 'Van der Woude syndrome 2'">Van der Woude syndrome 2</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/1842619" ref="tree=MeSH" title="MedGen record for Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability">Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability</a></span><ul><li><span class="TLline"><a href="/medgen/61233" ref="tree=MeSH" title="MedGen record for Van der Woude syndrome">Van der Woude syndrome</a></span><ul><li><span class="matched_ds">Van der Woude syndrome 1</span></li></ul></li></ul></li></ul></div></div></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/29115498">Association between genotype and phenotype of virulence gene in Van der Woude syndrome families.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li S,
|
||
Zhang X,
|
||
Chen D,
|
||
Zhao W,
|
||
Zhang X,
|
||
Jiao J,
|
||
Guo L,
|
||
Yin L,
|
||
Song X,
|
||
Liang C,
|
||
Sun C</span><br />
|
||
<span class="medgenPMjournal">Mol Med Rep</span>
|
||
2018 Jan;17(1):1241-1246.
|
||
Epub 2017 Nov 6
|
||
doi: 10.3892/mmr.2017.7978.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29115498" target="_blank">29115498</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14994878">Van der Woude syndrome: a review. Cardinal signs, epidemiology, associated features, differential diagnosis, expressivity, genetic counselling and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rizos M,
|
||
Spyropoulos MN</span><br />
|
||
<span class="medgenPMjournal">Eur J Orthod</span>
|
||
2004 Feb;26(1):17-24.
|
||
doi: 10.1093/ejo/26.1.17.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14994878" target="_blank">14994878</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10756431">On the nosology of van der Woude syndrome and popliteal pterygium syndrome: implications for genetic counseling.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fryns JP,
|
||
Devriendt K</span><br />
|
||
<span class="medgenPMjournal">Genet Couns</span>
|
||
2000;11(1):59-60.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10756431" target="_blank">10756431</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(van%20der%20woude%20syndrome%201)%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 (5)</a></div></div>
|
||
</div>
|
||
<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/33346530">Clinical Findings and Outcomes of Palatal Repair in 9 Patients With Van der Woude Syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Allam KA,
|
||
Haredy MM</span><br />
|
||
<span class="medgenPMjournal">Ann Plast Surg</span>
|
||
2021 Aug 1;87(2):165-168.
|
||
doi: 10.1097/SAP.0000000000002605.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33346530" target="_blank">33346530</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29160785">SCLERAL PITS IN CHOROIDEREMIA: Implications for Retinal Gene Therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Al-Qahtani AA,
|
||
Ba-Ali S,
|
||
Alabduljalil T,
|
||
Coyner AS,
|
||
Patel RC,
|
||
Weleber RG,
|
||
Girach A,
|
||
Christensen SK,
|
||
Larsen M,
|
||
Pennesi ME,
|
||
Yang P</span><br />
|
||
<span class="medgenPMjournal">Retina</span>
|
||
2018 Sep;38(9):1725-1730.
|
||
doi: 10.1097/IAE.0000000000001957.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29160785" target="_blank">29160785</a><a href="/pmc/articles/PMC5955782" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26332872">Toward an orofacial gene regulatory network.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kousa YA,
|
||
Schutte BC</span><br />
|
||
<span class="medgenPMjournal">Dev Dyn</span>
|
||
2016 Mar;245(3):220-32.
|
||
Epub 2015 Sep 17
|
||
doi: 10.1002/dvdy.24341.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26332872" target="_blank">26332872</a><a href="/pmc/articles/PMC4755791" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25439555">Congenital lesions of epithelial origin.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hills SE,
|
||
Maddalozzo J</span><br />
|
||
<span class="medgenPMjournal">Otolaryngol Clin North Am</span>
|
||
2015 Feb;48(1):209-23.
|
||
doi: 10.1016/j.otc.2014.09.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25439555" target="_blank">25439555</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/20415912">Van der Woude syndrome: dentofacial features and implications for clinical practice.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lam AK,
|
||
David DJ,
|
||
Townsend GC,
|
||
Anderson PJ</span><br />
|
||
<span class="medgenPMjournal">Aust Dent J</span>
|
||
2010 Mar;55(1):51-8.
|
||
doi: 10.1111/j.1834-7819.2009.01178.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/20415912" target="_blank">20415912</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Van%20der%20Woude%20syndrome%201%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 (34)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32558391">Non-random distribution of deleterious mutations in the DNA and protein-binding domains of IRF6 are associated with Van Der Woude syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alade AA,
|
||
Buxo-Martinez CJ,
|
||
Mossey PA,
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<div class="nl"><a target="_blank" href="/pubmed/29569458">Clinical, histomorphological and therapeutic features of the Van der Woude Syndrome: literature review and presentation of an unusual case.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Angiero F,
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<div class="nl"><a target="_blank" href="/pubmed/25439555">Congenital lesions of epithelial origin.</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/14994878">Van der Woude syndrome: a review. Cardinal signs, epidemiology, associated features, differential diagnosis, expressivity, genetic counselling and treatment.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Rizos M,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Van%20der%20Woude%20syndrome%201%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 (29)</a></div><h3 class="subhead">Therapy</h3>
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<div class="nl"><a target="_blank" href="/pubmed/32558391">Non-random distribution of deleterious mutations in the DNA and protein-binding domains of IRF6 are associated with Van Der Woude syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Alade AA,
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Buxo-Martinez CJ,
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Mossey PA,
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Gowans LJJ,
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Eshete MA,
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Adeyemo WL,
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Naicker T,
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Awotoye WA,
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Adeleke C,
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Busch T,
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Toraño AM,
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Bello CA,
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Soto M,
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Soto M,
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Ledesma R,
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Marquez M,
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Cordero JF,
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Lopez-Del Valle LM,
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Salcedo MI,
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Debs N,
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Li M,
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Petrin A,
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Olotu J,
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Aldous C,
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Olutayo J,
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Ogunlewe MO,
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Abate F,
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Hailu T,
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Muhammed I,
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Gravem P,
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Deribew M,
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Gesses M,
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Hassan M,
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Pape J,
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Adeniyan OA,
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Obiri-Yeboah S,
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Arthur FKN,
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Oti AA,
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Olatosi O,
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Miller SE,
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Donkor P,
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Dunnwald MM,
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Marazita ML,
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Adeyemo AA,
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Murray JC,
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Butali A</span><br />
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Epub 2020 Jun 17
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<span class="bold">PMID: </span><a href="/pubmed/32558391" target="_blank">32558391</a><a href="/pmc/articles/PMC7434609" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/25439555">Congenital lesions of epithelial origin.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hills SE,
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Maddalozzo J</span><br />
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<span class="medgenPMjournal">Otolaryngol Clin North Am</span>
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2015 Feb;48(1):209-23.
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<span class="bold">PMID: </span><a href="/pubmed/25439555" target="_blank">25439555</a></div>
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Almeida F,
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Rendeiro P,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Van%20der%20Woude%20syndrome%201%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 (3)</a></div><h3 class="subhead">Prognosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/29160785">SCLERAL PITS IN CHOROIDEREMIA: Implications for Retinal Gene Therapy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Al-Qahtani AA,
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Ba-Ali S,
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Alabduljalil T,
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Coyner AS,
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Patel RC,
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Weleber RG,
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Girach A,
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Christensen SK,
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Larsen M,
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Pennesi ME,
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Yang P</span><br />
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<span class="medgenPMjournal">Retina</span>
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2018 Sep;38(9):1725-1730.
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doi: 10.1097/IAE.0000000000001957.
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<span class="bold">PMID: </span><a href="/pubmed/29160785" target="_blank">29160785</a><a href="/pmc/articles/PMC5955782" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/28886269">Loss-of-Function GRHL3 Variants Detected in African Patients with Isolated Cleft Palate.</a></div>
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Liu H,
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Li M,
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Adeyemo WL,
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Gowans LJJ,
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Mossey PA,
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Busch T,
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Deressa W,
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Donkor P,
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Olaitan PB,
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Aregbesola BS,
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Braimah RO,
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Oseni GO,
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Oginni F,
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Audu R,
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Onwuamah C,
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James O,
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Augustine-Akpan E,
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Rahman LA,
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Ogunlewe MO,
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Arthur FKN,
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Bello SA,
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Agbenorku P,
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Twumasi P,
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Abate F,
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Hailu T,
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Demissie Y,
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Hailu A,
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Plange-Rhule G,
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Obiri-Yeboah S,
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Dunnwald MM,
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Gravem PE,
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Marazita ML,
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Adeyemo AA,
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Murray JC,
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<div class="nl"><a target="_blank" href="/pubmed/25439555">Congenital lesions of epithelial origin.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Hills SE,
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Maddalozzo J</span><br />
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<span class="medgenPMjournal">Otolaryngol Clin North Am</span>
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2015 Feb;48(1):209-23.
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doi: 10.1016/j.otc.2014.09.014.
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<span class="bold">PMID: </span><a href="/pubmed/25439555" target="_blank">25439555</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/24647295">Van der Woude syndrome: a review of 11 cases seen at the Lagos University Teaching Hospital.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">James O,
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Adeyemo WL,
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Emeka CI,
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Ogunlewe MO,
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Ladeinde AL,
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Butali A</span><br />
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|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15472655">Two missense mutations in the IRF6 gene in two Japanese families with Van der Woude syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Matsuzawa N,
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Yoshiura K,
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Machida J,
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Nakamura T,
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Niimi T,
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Furukawa H,
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Toyoda T,
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Natsume N,
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Shimozato K,
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Niikawa N</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/15472655" target="_blank">15472655</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Van%20der%20Woude%20syndrome%201%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 (14)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
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<div class="nl"><a target="_blank" href="/pubmed/32558391">Non-random distribution of deleterious mutations in the DNA and protein-binding domains of IRF6 are associated with Van Der Woude syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Alade AA,
|
||
Buxo-Martinez CJ,
|
||
Mossey PA,
|
||
Gowans LJJ,
|
||
Eshete MA,
|
||
Adeyemo WL,
|
||
Naicker T,
|
||
Awotoye WA,
|
||
Adeleke C,
|
||
Busch T,
|
||
Toraño AM,
|
||
Bello CA,
|
||
Soto M,
|
||
Soto M,
|
||
Ledesma R,
|
||
Marquez M,
|
||
Cordero JF,
|
||
Lopez-Del Valle LM,
|
||
Salcedo MI,
|
||
Debs N,
|
||
Li M,
|
||
Petrin A,
|
||
Olotu J,
|
||
Aldous C,
|
||
Olutayo J,
|
||
Ogunlewe MO,
|
||
Abate F,
|
||
Hailu T,
|
||
Muhammed I,
|
||
Gravem P,
|
||
Deribew M,
|
||
Gesses M,
|
||
Hassan M,
|
||
Pape J,
|
||
Adeniyan OA,
|
||
Obiri-Yeboah S,
|
||
Arthur FKN,
|
||
Oti AA,
|
||
Olatosi O,
|
||
Miller SE,
|
||
Donkor P,
|
||
Dunnwald MM,
|
||
Marazita ML,
|
||
Adeyemo AA,
|
||
Murray JC,
|
||
Butali A</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Genomic Med</span>
|
||
2020 Aug;8(8):e1355.
|
||
Epub 2020 Jun 17
|
||
doi: 10.1002/mgg3.1355.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32558391" target="_blank">32558391</a><a href="/pmc/articles/PMC7434609" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29160785">SCLERAL PITS IN CHOROIDEREMIA: Implications for Retinal Gene Therapy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Al-Qahtani AA,
|
||
Ba-Ali S,
|
||
Alabduljalil T,
|
||
Coyner AS,
|
||
Patel RC,
|
||
Weleber RG,
|
||
Girach A,
|
||
Christensen SK,
|
||
Larsen M,
|
||
Pennesi ME,
|
||
Yang P</span><br />
|
||
<span class="medgenPMjournal">Retina</span>
|
||
2018 Sep;38(9):1725-1730.
|
||
doi: 10.1097/IAE.0000000000001957.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29160785" target="_blank">29160785</a><a href="/pmc/articles/PMC5955782" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14994878">Van der Woude syndrome: a review. Cardinal signs, epidemiology, associated features, differential diagnosis, expressivity, genetic counselling and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rizos M,
|
||
Spyropoulos MN</span><br />
|
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<span class="medgenPMjournal">Eur J Orthod</span>
|
||
2004 Feb;26(1):17-24.
|
||
doi: 10.1093/ejo/26.1.17.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14994878" target="_blank">14994878</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3524249">A review of tooth formation in children with cleft lip/palate.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Ranta R</span><br />
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<span class="medgenPMjournal">Am J Orthod Dentofacial Orthop</span>
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1986 Jul;90(1):11-8.
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doi: 10.1016/0889-5406(86)90022-3.
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<span class="bold">PMID: </span><a href="/pubmed/3524249" target="_blank">3524249</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4019732">Genetic analysis in families with van der Woude syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Burdick AB,
|
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Bixler D,
|
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Puckett CL</span><br />
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<span class="medgenPMjournal">J Craniofac Genet Dev Biol</span>
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1985;5(2):181-208.
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<span class="bold">PMID: </span><a href="/pubmed/4019732" target="_blank">4019732</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Van%20der%20Woude%20syndrome%201%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 (36)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<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>
|
||
</div>
|
||
|
||
<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=C4551864%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (32)</a></li>
|
||
<li><a href="/gtr/tests?term=C4551864%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (33)</a></li>
|
||
<li><a href="/gtr/tests?term=C4551864%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (14)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C4551864%5bDISCUI%5d" target="_blank">See all (41)</a></total></li>
|
||
</ul></div>
|
||
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|
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<div class="portlet mgSection" id="ID_119">
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=119300" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Van%20der%20Woude%20syndrome%201" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(van%20der%20woude%20syndrome%201)%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">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67ca7d7ab15b832ebc9a4aca">Van der Woude syndrome 1</a>
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