Rasopathy

The RASopathies are developmental syndromes caused by germline mutations (or in rare cases by somatic mosaicism) in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction, including:

• Capillary malformation-AV malformation syndrome
• Autoimmune lymphoproliferative syndrome
• Cardiofaciocutaneous syndrome
• Hereditary gingival fibromatosis type 1
• Neurofibromatosis type 1
• Noonan syndrome
• Costello syndrome, Noonan-like
• Legius syndrome, Noonan-like
• Noonan syndrome with multiple lentigines, formerly called LEOPARD syndrome, Noonan-like