Genetics of cleft lip and palate revisited

J Clin Pediatr Dent. Summer 2003;27(4):311-20. doi: 10.17796/jcpd.27.4.k7j3628944237392.


Cleft lip with or without cleft palate (CL/CP) is one of the most common structural birth defects with treatment including multiple surgeries speech therapy, and dental and orthodontic treatments over the first 18 years of life. Providing care for these patients and families includes educating patients and parents about the genetics of CL/CP, as well as meeting the immediate medical needs. Attempts at identifying susceptibility loci via family and case-control studies have proved inconsistent. It is likely that initial predictions of the complex interactions involved in facial development were underestimated. The candidate gene list for CL/P is getting longer and the need for an impartial systematic screening technique, to implicate or refute the inclusion of particular loci, is apparent. So we are faced with the question "Can this complex trait be too complex?" The aim of this review is to make the dentist aware of the differences between syndromic and non-syndromic cleft as well as understanding the etiological variation in cleft lip with and without cleft palate. This will aid the dentist in diagnosis and give proper genetic counseling to parents and patients of cleft lip and palate.

Publication types

  • Review

MeSH terms

  • Adolescent
  • Child
  • Child, Preschool
  • Chromosome Mapping
  • Cleft Lip / genetics*
  • Cleft Palate / genetics*
  • Humans
  • Infant
  • Syndrome