Definition of Acrocephalosyndactyly

Acrocephalosyndactyly: An
inherited 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.