acrocephalosyndactyly
Acrocephalosyndactyly Category:health
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.
acrocephalosyndactyly Category:medicine
acrocephalosyndactyly
<paediatrics> A usually inherited disorder characterised by premature closing of the cranial suture lines resulting in a peaked shaped head and abnormal facial appearance.
Since it is usually autosomal dominant one or both parents also have the disorder. Surgery is used to correct skull and facial abnormalities.
Inheritance: autosomal dominant.
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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.
acrocephalosyndactyly Category:medicine
acrocephalosyndactyly
<paediatrics> A usually inherited disorder characterised by premature closing of the cranial suture lines resulting in a peaked shaped head and abnormal facial appearance.
Since it is usually autosomal dominant one or both parents also have the disorder. Surgery is used to correct skull and facial abnormalities.
Inheritance: autosomal dominant.
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