Sakati-Nyhan syndrome

An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections.

Also known as: ACPS with leg hypoplasia; Sakati syndrome; Sakati-Nyhan-Tisdale syndrome; acrocephalopolysyndactyly Type III; acrocephalopolysyndactyly type 3