LEOPARD syndrome

Noonan Syndrome with Multiple Lentigines (NSML) (also known as LEOPARD syndrome, Cardiocutaneous syndrome, Gorlin syndrome II, Lentiginosis profusa syndrome, Progressive cardiomyopathic lentiginosis, Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome, or Moynahan syndrome), which is part of a group called Ras/MAPK pathway syndromes, — is a rare autosomal dominant, multisystem disease caused by a mutation in the protein tyrosine phosphatase, non-receptor type 11 gene (PTPN11). The disease is a complex of features, mostly involving the skin, skeletal and cardiovascular systems, which may or may not be present in all patients. The nature of how the mutation causes each of the condition's symptoms is not well known; however, research is ongoing. It is a RASopathy.