- 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.
* * *A group of congenital syndromes characterized by craniosynostosis with abnormal head shape and cutaneous and/or bony syndactyly. There are several types with most types inherited as autosomal dominant. The phenotypes of types II and IV are not well defined. [acrocephaly + G. syn, together, + daktylos, finger]
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ac·ro·ceph·a·lo·syn·dac·ty·ly -.sef-ə-(.)lō-sin-'dak-tə-lē n, pl -lies a congenital syndrome characterized by a peaked head and webbed or fused fingers and toes* * *
ac·ro·ceph·a·lo·syn·dac·ty·ly (ak″ro-sef″ə-lo-sin-dakґtə-le) [acrocephaly + syndactyly] any of a group of autosomal dominant disorders in which craniostenosis is associated with acrocephaly and syndactyly, sometimes with additional anomalies. The term is occasionally used to denote Apert syndrome (acrocephalosyndactyly, type I).
Medical dictionary. 2011.
