ISBN: | 978-5-5106-2501-1 |
High Quality Content by WIKIPEDIA articles! LEOPARD syndrome (also known as Cardiocutaneous syndrome, Gorlin syndrome II, Lentiginosis profusa syndrome, Progressive cardiomyopathic lentiginosis,:550Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome, or Moynahan syndrome) - 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, they 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.