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Sakati-Nyhan syndrome
rareAn 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.
- Identifiers
- MONDO:0007040 OMIM:101120Orphanet:3128
- Part of
- Acrocephalopolysyndactyly
- Also known as
- ACPS 3 · ACPS with leg hypoplasia · ACPS3 · acrocephalopolysyndactyly type 3 · Sakati syndrome
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