Sakati-Nyhan syndrome (DOID:0060359)
Alliance: disease page
Synonyms: ACPS with leg hypoplasia; acrocephalopolysyndactyly type 3; acrocephalopolysyndactyly Type III; Sakati syndrome; Sakati-Nyhan-Tisdale syndrome
Alt IDs: OMIM:101120, ICD10CM:Q87.0, MESH:C537227, ORDO:3128
Definition: 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.