Genetics of nonsyndromic oral clefts revisited

Cleft Palate Craniofac J. 1996 Sep;33(5):406-17. doi: 10.1597/1545-1569_1996_033_0406_gonocr_2.3.co_2.


Nonsyndromic oral clefts are among the most common birth defects, affecting approximately 1 in 1000 Caucasian newborns. In recent decades, many investigators have used genetic and epidemiologic methods to identify etiologic factors, but results have often been inconclusive or contradictory. Etiologic heterogeneity is undoubtedly a major component in these birth defects, and there may not be a single answer to this problem. Here, we describe the main features of published studies pointing out their strengths and limitations. Additionally, we give insight into current methods for detecting the presence of interaction between genetic markers and environmental exposures in the etiology of oral clefts.

Publication types

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

MeSH terms

  • Alleles
  • Animals
  • Cleft Palate / genetics*
  • Disease Models, Animal
  • Diseases in Twins / genetics
  • Genetic Heterogeneity
  • Genetic Linkage
  • Humans
  • Models, Genetic
  • Polymorphism, Restriction Fragment Length
  • Risk
  • Transforming Growth Factor alpha / genetics


  • Transforming Growth Factor alpha