Van der Woude syndrome


Disease 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.[4015][4016] Growth and intelligence are usually normal.[4016] This condition is caused by mutations in the IRF6 gene and is inherited in a autosomal dominant fashion.[4015][4016]

Van der Woude syndrome represents the mild end of the spectrum of disorders known as IRF6-related disorders. At the more severe end of the spectrum is popliteal pterygium syndrome.[4016]


  • VDWS
  • VWS
  • Lip pit syndrome
  • LPS
  • Cleft lip and/or palate with mucous cysts of lower lip

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