(CV-AVM)

Capillary malformation-AV malformation syndrome

(CFC)

Cardiofaciocutaneous syndrome

(NF1)

Neurofibromatosis type I

(NS)

Noonan syndrome

(CS)

Costello syndrome

also known as NF1-like syndrome

Legius syndrome

(NSML), formerly called LEOPARD syndrome

Noonan syndrome with multiple lentigines

SYNGAP1-related intellectual disability

Known RASopathies include the following:[1][2]


Somatic mutations in the Ras/MAPK pathway can cause cancers and disorders such as RAS-associated autoimmune leukoproliferative disorder (RALD) or juvenile myelomonocytic leukemia (JMML). These syndromes may share some features with RASopathies but are not considered true RASopathies if caused by somatic mutation.[3] Generally, RASopathies increase the risk of developing cancers.[1][4] Neurodevelopmental or psychiatric disorders such as attention deficit hyperactivity disorder, autism spectrum disorder, and anxiety occur at higher rates in individuals with RASopathies.[5][6]