Neuro-cardio-facial-cutaneous syndromes

type of neurofibromatosis disease

rare autosomal dominant,[3] multisystem disease caused by a mutation in the protein tyrosine phosphatase, non-receptor type 11 gene (PTPN11)

Human disease

The RASopathies are a group of developmental syndromes caused by germline mutations in genes belonging to the Ras/MAPK pathway. Common features include intellectual disability, congenital heart defects, skin abnormalities, and craniofacial abnormalities.

rare genetic skin pigmentation disorder characterized by multiple cafe-au-lait macules