RASopathy

RASopathy is a class of genetic syndromes caused by germline mutations in genes that are part of the RAS/MAPK pathway. These syndromes share many overlapping developmental and morphological features, including cardiovascular disease, facial dysmorphia, and neurocognitive impairment.

Classification

RASopathies include the following syndromes:

• Neurofibromatosis type 1
• Noonan syndrome
• Costello syndrome
• Cardiofaciocutaneous syndrome
• LEOPARD syndrome
• Legius syndrome
• Capillary malformation–arteriovenous malformation syndrome

Genetics

RASopathies are caused by germline mutations in genes that are part of the RAS/MAPK pathway. This pathway is involved in cell division, differentiation, and senescence. Mutations in this pathway can lead to uncontrolled cell growth and division, which can contribute to the development of tumors and other abnormalities.

Symptoms and signs

Common symptoms and signs of RASopathies include:

• Cardiovascular disease
• Facial dysmorphia
• Neurocognitive impairment
• Growth delay
• Musculoskeletal abnormalities
• Cutaneous abnormalities
• Ocular abnormalities

Diagnosis

Diagnosis of RASopathies is based on clinical features and genetic testing. Genetic testing can confirm the diagnosis and help guide treatment and management decisions.

Treatment

Treatment for RASopathies is symptomatic and supportive. It may include medications, surgery, physical therapy, and other interventions to manage symptoms and improve quality of life.

See also

• Genetic disorder
• Syndrome
• Mutation
• Cell division
• Cell differentiation
• Senescence