Fibroblast growth factor receptor 2:</ b> A mutation (change) in the fibroblast
growth factor receptor 2 (FGFR2) gene on chromosome 10 causes the best-known type
of acrocephalosyndactyly, namely Apert syndrome which is characterized by abnormalities
of the skull and face and the hands and feet. There is premature closure of some
of the sutures of the skull (craniosynostosis) resulting in an abnormally shaped
head (which is unusually tall but short from front-to-back) and an abnormally shaped
face with shallow eye sockets and underdevelopment of the midface. There is fusion
of fingers and toes (syndactyly) and broad ends of the thumbs and big toes. Surgery
is often useful with the skull, face, hands and feet. Different mutations in FGFR2
are responsible for two other genetic diseases, namely, Pfeiffer syndrome (another
type of acrocephalosyndactyly) and Crouzon syndrome (purely a craniofacial disorder
with no hand or foot problems). All are inherited as dominant traits.
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