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

Am J Med Genet. 1980;5(2):117-23. doi: 10.1002/ajmg.1320050203.


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 off-spring differed appreciably from that reported in the literature. The implications of these findings for genetic counseling are discussed.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Cleft Lip / genetics*
  • Cleft Palate / genetics*
  • Female
  • Gene Frequency
  • Humans
  • Lip / abnormalities*
  • Male
  • Pedigree
  • Phenotype
  • Syndrome
  • Tooth Abnormalities / genetics*