Sakati-Nyhan syndrome
MONDO:0007040Mondo
Findings
No curated finding names Sakati-Nyhan syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0007040), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of
Other names
2 names
Resolves to: Sakati-Nyhan syndrome
- Also called
- ACPS with leg hypoplasiaacrocephalopolysyndactyly type 3