Edited by: Steven Benowitz
ALLELIC TWINS: Jackson-Weiss and Crouzon syndromes are both caused by FGFR2 mutation, notes Johns Hopkins researcher Ethylin Jabs.
Mutations in a group of proteins known as fibroblast growth factor receptors 2 (FGFR2) have been found in patients with Jackson-Weiss syndrome, in which the skull, face, and feet may be deformed, and another similar inherited disorder, Crouzon syndrome. One of the hallmarks of both diseases is craniosynostosis, in which the skull bones fuse prematurely, causing abnormally shaped skulls. The condition occurs in one in 3,000 newborns.