van der Woude syndrome


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van der Woude syndrome

(van dĕr wō'dĕ),
an autosomal recessive condition characterized by cleft lip and palate or isolated cleft palate and lip pits.
[Anne van der Woude]

van der Woude syndrome

(van dĕr wō'dĕ),
an autosomal recessive condition characterized by cleft lip and palate or isolated cleft palate and lip pits.
[Anne van der Woude]

IRF6

A gene on chromosome 1q32.3-q41 that encodes a member of the interferon regulatory transcription factor (IRF) family, which have diverse roles such as virus-mediated activation of interferons and modulation of cell growth, differentiation, apoptosis and immune system activity. IRF6 appears to be a transcription activator.

Molecular pathology
IRF6 mutations are linked to non-syndromic orofacial cleft type 6, popliteal pterygium syndrome and van der Woude syndrome.

Van der Woude syndrome

(van'der-wood?e)
An autosomal dominant syndrome marked by cleft lip, palate, or both, paramedian pits of the lower lip, hypodontia, and missing second premolar teeth. Synonym: cleft lip–cleft palate syndrome; lip-pit syndrome
References in periodicals archive ?
Van der Woude syndrome is believed to occur in 1 in 35,000 to 1 in 100,000 people, based on data from Europe and Asia.
Cognitive dysfunction in adults with Van der Woude syndrome.
Scientists have discovered that errors in the IRF6 gene are responsible for Van der Woude syndrome, which causes severe facial disfigurement.
Van der Woude syndrome is autosomal dominant, so if one parent is affected with lower-lip pits, the risk of transmitting the disorder is 50 percent for each pregnancy.
Various syndromic conditions (Ectodermal dysplasia, van der Woude syndrome, Down's syndrome, Rieger syndrome and Book syndrome) can lead to missing lateral incisors,1,3,4 but mostly the problem is encountered in healthy individuals (non-syndromic hypodontia.