Van der Woude syndrome

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Van der Woude syndrome
ICD-10 Q38.0
OMIM 119300
DiseasesDB 31926

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]


Overview

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]

Genetics

VDWS is an autosomal dominant or sporadic inheritence 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]

See also

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. PMID 12219090. doi:10.1038/ng985. 

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