| [ Summary ] |
The FGF family consists of 22 ligands and four tyrosine kinase type receptors. The dwarfing chondrodysplasia syndromes, which include achondroplasia, hypochondroplasia, and thanatophoric dysplasia, are disorders of FGFR 3. The severity of the disease is correlated with the activation level of the mutant FGFR 3. Craniosynostosis syndromes, which include Crouzon syndrome, Apert syndrome, Pfeiffer syndrome, and Jackson-Weiss syndrome, are caused by mutations of FGFR 1, FGFR 2, and FGFR 3. FGFs play critical roles in both endochondral and membranous ossification. |