Van der Woude syndrome

Common Name(s)

Van der Woude syndrome, Cleft Lip and/or Palate with Mucous Cysts of Lower

Van der Woude syndrome is a condition that affects the development of the face. Many people with this disorder are born with a cleft lip and/or a cleft palate. 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. Some People with van der Woude syndrome may experience delayed language development, learning disabilities, or other mild cognitive problems. This condition is caused by mutations in the IRF6 gene and is inherited in an autosomal dominant fashion.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Van der Woude syndrome" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Van der Woude syndrome" returned 32 free, full-text research articles on human participants. First 3 results:

Genetic heterogeneity in Van der Woude syndrome: identification of NOL4 and IRF6 haplotype from the noncoding region as candidates in two families.
 

Author(s): Priyanka Kumari Kumari, Akhtar Ali, Subodh Kumar Singh, Amit Chaurasia, Rajiva Raman

Journal: J. Genet.. 2018 Mar;97(1):275-285.

 

Van der Woude syndrome (VWS) shows an autosomal dominant pattern of inheritance with two known candidate genes, IRF6 and GRHL3. In this study, by employing genome-wide linkage analyses on two VWS affected families, we report the cosegregation of an intronic rare variant in NOL4 in ...

Last Updated: 31 Dec 1969

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Interferon Regulatory Factor 6 Controls Proliferation of Keratinocytes From Children With Van der Woude Syndrome.
 

Author(s): Katherine Hixon, Lindsey Rhea, Jennifer Standley, Frank J Canady, John W Canady, Martine Dunnwald

Journal: Cleft Palate Craniofac. J.. 2017 05;54(3):281-286.

 

Interferon Regulatory Factor 6 (IRF6) is critical for craniofacial development, epidermal differentiation, and tissue repair. IRF6 mutations cause Van der Woude Syndrome (VWS) and Popliteal Pterygium Syndrome. Individuals with VWS exhibit craniofacial anomalies, including cleft lip ...

Last Updated: 31 Dec 1969

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Van der Woude syndrome: a review of 11 cases seen at the Lagos University Teaching Hospital.
 

Author(s): Olutayo James, Wasiu L Adeyemo, Christian I Emeka, Mobolanle O Ogunlewe, Akinola L Ladeinde, Azeez Butali

Journal: Afr J Paediatr Surg. ;11(1):52-5.

 

Van der Woude syndrome (VWS), an autosomal dominant condition associated with clefts of the lip and/or palate and lower lip pits and is caused by mutations in interferon regulatory factor six gene. It is reported to be the most common syndromic cleft world-wide. Non-penetrance for ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

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The terms "Van der Woude syndrome" returned 0 free, full-text review articles on human participants.

 
 
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