Aurocephalosyndactyly

Kurczynski and Casperson (1988) described a new craniosynostosis syndrome inherited apparently as an autosomal dominant. Associated with the craniosynostosis were characteristic pinnae, a short columella, and symmetric syndactyly of toes 4 and 5. Three males and a female in 1 generation and the daughter of the female in the next generation were affected. 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 father of these 4 affected sibs and some of his sibs were said to have similar head shapes but none ever sought medical evaluation.