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Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

Van der Woude syndrome

Reviewed April 2008

What is van der Woude syndrome?

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, a cleft palate (an opening in the 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.

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.

How common is van der Woude syndrome?

Van der Woude syndrome is believed to occur in 1 in 35,000 to 1 in 100,000 people, based on data from Europe and Asia. Van der Woude syndrome is the most common cause of cleft lip and palate resulting from variations in a single gene, and this condition accounts for approximately 1 in 50 such cases.

What genes are related to van der Woude syndrome?

Mutations in the IRF6 gene cause van der Woude syndrome. The IRF6 gene provides instructions for making a protein that plays an important role in early development. This protein is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of particular genes.

The IRF6 protein is active in cells that give rise to tissues in the head and face. It is also involved in the development of other parts of the body, including the skin and genitals.

Mutations in the IRF6 gene that cause van der Woude syndrome prevent one copy of the gene in each cell from making any functional protein. A shortage of the IRF6 protein affects the development and maturation of tissues in the face, resulting in the signs and symptoms of van der Woude syndrome.

Related Gene(s)

Changes in this gene are associated with van der Woude syndrome.

  • IRF6

How do people inherit van der Woude syndrome?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition. Occasionally, an individual who has a copy of the altered gene does not show any signs or symptoms of the disorder.

Where can I find information about diagnosis or management of van der Woude syndrome?

These resources address the diagnosis or management of van der Woude syndrome and may include treatment providers.

  • Gene Review: IRF6-Related Disorders (http://www.ncbi.nlm.nih.gov/books/NBK1407)
  • Genetic Testing Registry: Van der Woude syndrome (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0175697)

You might also find information on the diagnosis or management of van der Woude syndrome in Educational resources (http://www.ghr.nlm.nih.gov/condition/van-der-woude-syndrome/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/van-der-woude-syndrome/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about van der Woude syndrome?

You may find the following resources about van der Woude syndrome helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for van der Woude syndrome?

  • cleft lip and/or palate with mucous cysts of lower lip
  • lip-pit syndrome
  • VDWS
  • VWS

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about van der Woude syndrome?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding van der Woude syndrome?

autosomal ; autosomal dominant ; cell ; cleft palate ; cysts ; disabilities ; DNA ; gene ; genitals ; inherited ; IQ ; mucous ; palate ; population ; protein ; syndrome ; tissue ; transcription ; transcription factor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Gene Review: IRF6-Related Disorders (http://www.ncbi.nlm.nih.gov/books/NBK1407)
  • Ghassibé M, Revencu N, Bayet B, Gillerot Y, Vanwijck R, Verellen-Dumoulin C, Vikkula M. Six families with van der Woude and/or popliteal pterygium syndrome: all with a mutation in the IRF6 gene. J Med Genet. 2004 Feb;41(2):e15. (http://www.ncbi.nlm.nih.gov/pubmed/14757865?dopt=Abstract)
  • Kondo S, Schutte BC, Richardson RJ, Bjork BC, Knight AS, Watanabe Y, Howard E, de Lima RL, Daack-Hirsch S, Sander A, McDonald-McGinn DM, Zackai EH, Lammer EJ, Aylsworth AS, Ardinger HH, Lidral AC, Pober BR, Moreno L, Arcos-Burgos M, Valencia C, Houdayer C, Bahuau M, Moretti-Ferreira D, Richieri-Costa A, Dixon MJ, Murray JC. Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nat Genet. 2002 Oct;32(2):285-9. Epub 2002 Sep 3. (http://www.ncbi.nlm.nih.gov/pubmed/12219090?dopt=Abstract)
  • Nopoulos P, Richman L, Andreasen N, Murray JC, Schutte B. Cognitive dysfunction in adults with Van der Woude syndrome. Genet Med. 2007 Apr;9(4):213-8. (http://www.ncbi.nlm.nih.gov/pubmed/17438385?dopt=Abstract)
  • Nopoulos P, Richman L, Andreasen NC, Murray JC, Schutte B. Abnormal brain structure in adults with Van der Woude syndrome. Clin Genet. 2007 Jun;71(6):511-7. (http://www.ncbi.nlm.nih.gov/pubmed/17539900?dopt=Abstract)
  • Rizos M, Spyropoulos MN. Van der Woude syndrome: a review. Cardinal signs, epidemiology, associated features, differential diagnosis, expressivity, genetic counselling and treatment. Eur J Orthod. 2004 Feb;26(1):17-24. Review. (http://www.ncbi.nlm.nih.gov/pubmed/14994878?dopt=Abstract)
  • OMIM: VAN DER WOUDE SYNDROME 1 (http://omim.org/entry/119300)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: April 2008
Published: October 27, 2014