Term Name: | Sakati-Nyhan syndrome |
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Synonyms: | ACPS with leg hypoplasia, acrocephalopolysyndactyly type 3, acrocephalopolysyndactyly Type III, Sakati syndrome, Sakati-Nyhan-Tisdale syndrome |
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. |
Ontology: | Human Disease [DOID:0060359] ( DOID:0060359 ) |