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 26 free, full-text research articles on human participants. First 3 results:

Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development.
 

Author(s): Myriam Peyrard-Janvid, Elizabeth J Leslie, Youssef A Kousa, Tiffany L Smith, Martine Dunnwald, Måns Magnusson, Brian A Lentz, Per Unneberg, Ingegerd Fransson, Hannele K Koillinen, Jorma Rautio, Marie Pegelow, Agneta Karsten, Lina Basel-Vanagaite, William Gordon, Bogi Andersen, Thomas Svensson, Jeffrey C Murray, Robert A Cornell, Juha Kere, Brian C Schutte

Journal: Am. J. Hum. Genet.. 2014 Jan;94(1):23-32.

 

Mutations in interferon regulatory factor 6 (IRF6) account for ∼70% of cases of Van der Woude syndrome (VWS), the most common syndromic form of cleft lip and palate. In 8 of 45 VWS-affected families lacking a mutation in IRF6, we found coding mutations in grainyhead-like 3 (GRHL3). ...

Last Updated: 6 Jan 2014

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Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases.
 

Author(s): Elizabeth J Leslie, Jennifer Standley, John Compton, Sherri Bale, Brian C Schutte, Jeffrey C Murray

Journal: Genet. Med.. 2013 May;15(5):338-44.

 

Mutations in the transcription factor IRF6 cause allelic autosomal dominant clefting syndromes, Van der Woude syndrome, and popliteal pterygium syndrome. We compared the distribution of IRF6 coding and splice-site mutations from 549 families with Van der Woude syndrome or popliteal ...

Last Updated: 7 May 2013

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Monozygotic twins with variable expression of Van der Woude syndrome.
 

Author(s): Rebekah Jobling, Raechel A Ferrier, Ross McLeod, Aline Lourenco Petrin, Jeffrey C Murray, Mary Ann Thomas

Journal: Am. J. Med. Genet. A. 2011 Aug;155A(8):2008-10.

 

Last Updated: 20 Jul 2011

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Van der Woude syndrome" returned 1 free, full-text review articles on human participants. First 3 results:

Van der Woude syndrome: a review. Cardinal signs, epidemiology, associated features, differential diagnosis, expressivity, genetic counselling and treatment.
 

Author(s): Maria Rizos, Meropi N Spyropoulos

Journal: Eur J Orthod. 2004 Feb;26(1):17-24.

 

Congenital pits of the lower lip constitute a rare developmental malformation, transmitted by an autosomal dominant mode, with considerable heterogeneity as regards the expression of the disorder. They are present in van der Woude syndrome (VWS), in which clefts of the upper lip and/or ...

Last Updated: 3 Mar 2004

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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