An inhe rited disorder causing abnormalities of
the skull and face and the hands and feet.
In acrocephalosyndactyly there is closure too-early of some of the sutures of
the skull (craniosynostosis). This results in an abnormally shaped head, which is
unusually tall and peaked, 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 to correct the abnormalities of the skull, face, hands
and feet.
Acrocephalosyndactyly is an autosomal dominant trait with boys and girls affected
equally. A affected parent can have transmit the gene for the disorder or both parents
can be normal with the disorder appearing in the child due to a new mutation.
The best-known type of acrocephalosyndactyly is Apert syndrome which is due to
a mutation in the fibroblast growth factor receptor 2 (FGFR2) gene on chromosome
10. 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 dominant
traits.
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