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acrocephalosyndactyly

Головна Dictionary acrocephalosyndactyly

acrocephalosyndactyly An inherited disorder characterized by abnormalities of the skull, face, hands, and feet. It begins with premature closure of some sutures of the skull (craniosynostosis) and results in a tall peaked head, shallow eye sockets, and underdeveloped cheekbones. With acrocephalosyndactyly, fingers and toes are fused (syndactyly), and the thumbs and big toes have broad ends. Acrocephalosyndactyly is an autosomal dominant trait that affects boys and girls. A parent can transmit the gene for the disorder, or it can occur due to a new mutation. Surgery is often useful to correct the abnormalities of the skull, face, hands, and feet. See also Apert syndrome; Crouzon syndrome.

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