Genetics of craniofacial development and malformation

Nat Rev Genet. 2001 Jun;2(6):458-68. doi: 10.1038/35076601.


The head is anatomically the most sophisticated part of the body and its evolution was fundamental to the origin of vertebrates; understanding its development is a formidable problem in biology. A synthesis of embryology, evolution and mouse genetics is shaping our understanding of head development and in this review we discuss its application to studies of human craniofacial malformations. Many of these disorders have their origins in specific embryological processes, including abnormalities of brain patterning, of the migration and fusion of tissues in the face, and of bone differentiation in the skull vault.

Publication types

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

MeSH terms

  • Animals
  • Biological Evolution
  • Embryonic and Fetal Development / genetics*
  • Face / abnormalities
  • Face / embryology*
  • Gene Targeting
  • Humans
  • Mice
  • Mutation*
  • Skull / abnormalities
  • Skull / embryology*