Van der Woude syndrome

Van Der Woude syndrome (VDWS) consists of the following characteristics: cleft lip with or without cleft palate, isolated cleft palate, pits or mucous cysts on the lower lip, and hypodontia. It is the most common syndromic form of cleft lip and palate (CLP), accounting for 2% of all CLP cases (usually CLP is nonsyndromic). Affected individuals have normal intelligence.

It was first characterized in 1954.^[1]

The introduction to this article provides insufficient context for those unfamiliar with the subject. Please help improve the article with a good introductory style. (October 2009)

Genetics

VDWS is an autosomal dominant or sporadic inheritance caused by mutations of the IRF6 gene, located on chromosome 1 at 1q32-q41. (Popliteal pterygium syndrome can also be caused by mutations of this gene.)

In 2002 Kondo et al. described a pair of monozygotic twins discordant for VDWS whose parents did not have the disorder.^[2][3]

See also

• Popliteal pterygium syndrome
• List of cutaneous conditions

References

1. ^ Van der Woude A (1954). "Fistula labii inferioris congenita and its association with cleft lip and palate". Am. J. Hum. Genet. 6 (2): 244–56. PMID 13158329. 
2. ^ Kondo S, Schutte BC, Richardson RJ, et al. (2002). "Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes". Nat. Genet. 32 (2): 285–9. doi:10.1038/ng985. PMID 12219090. 
3. ^ "Cleft Lip and Palate: Van der Woude Syndrome". National Institute of Dental and Craniofacial Research. http://www.nidcr.nih.gov/Research/ResearchResults/InterviewsOHR/TIS102002.htm. 

External links

• OMIM: 119300 Van der Woude syndrome; Lip pit syndrome; Cleft lip and/or palate with mucous cysts of lower lip at NIH's Office of Rare Diseases
• OMIM: 606713 Van der Woude syndrome 2 at NIH's Office of Rare Diseases
• Koillinen H, Wong FK, Rautio J, et al. (October 2001). "Mapping of the second locus for the Van der Woude syndrome to chromosome 1p34". Eur. J. Hum. Genet. 9 (10): 747–52. doi:10.1038/sj.ejhg.5200713. PMID 11781685. 

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