The van der Woude syndrome in a large kindred: Variability, penetrance, genetic risks

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Abstract
The van der Woude syndrome was studied in a seven-generation kindred. Lip pits were the most common manifestation of affected persons. They occurred in 88% of the affected and were the only manifestations in 64%; clefts of lip and palate occurred in 21%. Penetrance was 96.7%. careful examination showed minor manifestations of the syndrome in several individuals who had considered themselves unaffected. The distribution of manifestations and the risk to offspring differed appreciably from that reported in the literature. The implications of these findings for genetic counseling are discussed.

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