Aurocephalosyndactyly
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Summary
Aurocephalosyndactyly, a syndrome including craniosynostosis associated to other malformations was described in one single family with 5 affected individuals (3 males and 2 females) over 2 generations. Associated with the craniosynostosis were characteristic ears, a short columella (basis of the nasal wall separating nostrils), and symmetric syndactyly of toes 4 and 5. Two of the brothers had craniectomies and developed mild mental retardation and hearing loss. The third affected brother died of congenital heart disease in infancy. The syndrome is likely to be inherited as an autosomal dominant trait.
Last update: July 2005
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