RASopathy - What are they?

The RAS pathway is a part of the body that regulates each person's growth and function. It is critical to each person's normal, early development. If this pathway is disrupted by a genetic change in a child's development, there can be a variety of symptoms, including skin changes, heart defects, problems with muscles, bones, eyesight and learning abilities. In some cases, there is an increased risk of developing tumors or cancer.


The RASopathies are developmental syndromes caused by germline mutations in genes that alter the Ras subfamily and Mitogen-activated protein kinase that control Signal transduction


Examples:

• Capillary malformation-AV malformation syndrome
• Autoimmune lymphoproliferative syndrome
• Costello syndrome
• Hereditary Gingival fibromatosis type 1
• Legius syndrome
• LEOPARD syndrome
• Neuro-cardio-facial-cutaneous syndromes
• Neurofibromatosis type 1
• Noonan syndrome

Courtesy: Wikkipedia and Univ of Wisconsin