In recent years the study of fibroblast growth factor receptors (FGFRs) in
normal development and human genetic disorders has increased our understand
ing of some complex cellular processes. At least fifteen genetic disorders
result fi om mutations within FGFR genes including skeletal dysplasias such
as Apert syndrome and achondroplasia, In vitro experiments and the generat
ion of animal models indicate that these mutations result in activation of
the receptors and that FGFRs act as negative regulators of hone growth, FGF
Rs also play a role in wound healing and cancer. In this article, we review
the expression of FGFRs in human development, the phenotypes resulting fro
m FGFR mutations, and recent data identifying pathways downstream of the ac
tivated receptors.