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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


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

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.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Van der Woude syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Van der Woude syndrome. Click on the link to view a sample search on this topic.