The genetic basis of craniofacial and dental abnormalities

Schweiz Monatsschr Zahnmed. 2011;121(7-8):636-46.


The embryonic head development, including the formation of dental structures, is a complex and delicate process guided by specific genetic programs. Genetic changes and environmental factors can disturb the execution of these programs and result in abnormalities in orofacial and dental structures. Orofacial clefts and hypodontia/ oligodontia are examples of such abnormalities frequently seen in dental clinics. An insight into the mechanisms and genes involved in the formation of orofacial and dental structures has been gradually gained by genetic analysis of families and by the use of experimental vertebrate models such as the mouse and chick models. The development of novel clinical therapies for orofacial and dental pathological conditions depends very much on a detailed knowledge of the molecular and cellular processes that are involved in head formation.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Anodontia / embryology
  • Anodontia / genetics*
  • Cleft Lip / embryology
  • Cleft Lip / genetics
  • Cleft Palate / embryology
  • Cleft Palate / genetics*
  • Fibroblast Growth Factors / physiology
  • Hedgehog Proteins / physiology
  • Humans
  • MSX1 Transcription Factor / genetics
  • Mice
  • Neural Crest
  • PAX9 Transcription Factor / genetics
  • Paired Box Transcription Factors / genetics
  • Palate, Hard / embryology*
  • Signal Transduction / genetics*
  • Skull / embryology*
  • Transforming Growth Factor beta / physiology
  • Wnt Proteins / genetics


  • Hedgehog Proteins
  • MSX1 Transcription Factor
  • MSX1 protein, human
  • Msx1 protein, mouse
  • PAX9 Transcription Factor
  • PAX9 protein, human
  • Paired Box Transcription Factors
  • Pax9 protein, mouse
  • Transforming Growth Factor beta
  • Wnt Proteins
  • Fibroblast Growth Factors