VAN DER WOUDE SYNDROME
Victor A. McKusick, Johns Hopkins University, July 18, 2007
 [for Professionals mainly]
Alternative titles; symbols:
LIP - PIT SYNDROME.
CLEFT LIP AND/OR PALATE WITH MUCOUS CYSTS OF LOWER LIP.
Gene Map Locus: 1q32.
… Levy (1962) found malformations of the lower lip consisting of symmetrical lumps. Two sibs had cleft palate in addition to the lip anomaly … Van der Woude (1954) … Found confirmation for the autosomal dominant mode of inheritance … Cleft palate alone and cleft lip with or without cleft palate behave differently does not hold in this disorder, in which either type of cleft alone or the 2 in combination may occur … Penetrance was 96.7 % … Conical elevations ( CE ) on the lower lip at the site of sinuses were present in 39.3 % of cleft palate cases, 0.8 % of cleft lip with or without cleft palate cases, and 0,7 % of noncleft cases. In CP cases with CE, the familial occurrence of clefts was statistically higher (30 %) …
Confirmation of linkage of Van der Woude syndrome to chromosome 1q32
S. Beiraghi, et al., Growth & Development, Univ Nebraska Medical Ctr. Omaha, NE.
Van der Woude ( VWS ) is an autosomal dominant craniofacial disorder with high penetrance and variable expression of its clinical features of cleft lip and / or cleft palate, lip pits and hypodontia. The gene has been mapped to a <2 cM region of chromosome 1q32 … We recruited four multiplex VWS families … Our results are fully consistent with previous mapping of the VWS gene between D1S491 and D1S205 … Striking pattern of STR allele sharing at several closely linked loci among our four Caucasian VSW families … Suggests the possibility of a unique origin for a mutation responsible for many or most cases of VWS ...
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Last Updated: 2008/1/07
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