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Van der Woude syndrome


Other Names for this Disease
  • Cleft lip and/or palate with mucous cysts of lower lip
  • Lip pit syndrome
  • LPS
  • VDWS
  • VWS
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Overview



What is van der Woude syndrome?

How is van der Woude syndrome inherited?

How is van der Woude syndrome diagnosed?


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 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.[1]
Last updated: 8/1/2011

How is van der Woude syndrome inherited?

Van der Woude syndrome is inherited in an autosomal dominant pattern, which means that 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.[1]
Last updated: 8/1/2011

How is van der Woude syndrome diagnosed?

Van der Woude syndrome should be considered in every child born with a cleft lip and/or palate. A clinical evaluation by a medical geneticist is generally performed to document all relevant clinical findings. In addition, the parents should be examined for isolated lip pits, cleft palate, and hypodontia (missing teeth). To make a clinical diagnosis of Van der Woude syndrome, at least one of the following findings must be present:[2]
  • Lip pits and cleft lip AND/OR palate (CLP). Lip pits must be paramedian on the lower lip, and can include mounds with a sinus tract leading from a mucous gland of the lip.

  • Lip pits alone and a first-degree relative with CLP

  • CLP and a first-degree relative with lip pits

Genetic testing for mutations in the IRF6 gene can also be used to diagnose this condition.[2] GeneTests lists the names of laboratories that are performing genetic testing for van der Woude syndrome. To view the contact information for the clinical laboratories conducting testing, click herePlease note:  Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.
Last updated: 8/1/2011

References
  1. van der Woude syndrome. Genetics Home Reference. April 2008; http://ghr.nlm.nih.gov/condition/van-der-woude-syndrome. Accessed 8/1/2011.
  2. Durda KM, Schutte BC, Murray JC. IRF6-Related Disorders. GeneReviews. March 2011; http://www.ncbi.nlm.nih.gov/books/NBK1407/. Accessed 8/1/2011.