Anomalies associated with cleft lip, cleft palate, or both

Am J Med Genet. 1985 Apr;20(4):585-95. doi: 10.1002/ajmg.1320200404.


Numerous investigators have reported on a low frequency of other anomalies in patients with cleft lip, cleft palate, or both. The data have been somewhat inconsistent, ranging from a 3% to over 30% frequency of associated malformations. However, a recent study concluded that over half of the children with clefts at a large metropolitan center have associated anomalies. In an effort to elucidate further the genetic and morphologic characteristics of patients with clefts, 1,000 patients with clefts of the lip, palate, or both were examined and reviewed. The results indicate that associated anomalies occur in 63.4% of the sample. Approximately half of the patients with multiple anomalies have recognized syndromes, sequences, or associations, while the other half have physical examination (apparently one-of-a-kind) syndromes. The high frequency of associated anomalies has obvious implications for the genetic counseling offered to all patients at cleft palate and craniofacial centers. The frequency of associated anomalies also raises questions regarding the validity of past genetic research involving populations of subjects with clefts.

MeSH terms

  • Adolescent
  • Body Height
  • Child
  • Child, Preschool
  • Cleft Lip / complications*
  • Cleft Lip / genetics
  • Cleft Palate / complications*
  • Cleft Palate / genetics
  • Congenital Abnormalities / genetics*
  • Genetic Counseling
  • Humans
  • Infant
  • Infant, Newborn
  • Intellectual Disability / genetics
  • Microcephaly / genetics
  • Recurrence
  • Risk
  • Syndrome