Disease

Sakati-Nyhan 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.
Synonyms
  • ACPS with leg hypoplasia
  • acrocephalopolysyndactyly type 3
Cross References
Parent Terms
Child Terms
None
Sources of Associations

Associated Genes

Associated Alleles

Associated Models