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