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.
MONDO:0000078
acrocephalopolysyndactyly
is_a
ACPS 3
related
ACPS with leg hypoplasia
exact
ACPS3
related
Sakati syndrome
related
Sakati-Nyhan syndrome
exact
acrocephalopolysyndactyly type 3
exact