rasopathy [Neurosurgery Wiki]

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RASopathies are a group of genetic disorders caused by mutations in genes that are part of the RAS-MAPK pathway. The RAS-MAPK pathway is a signaling pathway involved in the regulation of cell growth, proliferation, and differentiation. Mutations in the genes associated with RASopathies disrupt the normal functioning of this pathway, leading to a variety of clinical features and medical conditions.

Some examples of RASopathies include:

Neurofibromatosis type 1 (NF1): NF1 is characterized by the development of multiple benign tumors called neurofibromas, café-au-lait spots (light brown patches on the skin), and freckling in the armpits and groin area. It can also affect the nervous system, causing learning disabilities, developmental delays, and other neurological problems.

[[Noonan syndrome]] (NS): NS is a genetic disorder that presents with characteristic facial features, short stature, heart defects, and developmental delays. It can also involve various other symptoms, including bleeding problems, skeletal abnormalities, and intellectual disabilities.

Costello syndrome: Costello syndrome is a rare genetic disorder characterized by distinctive facial features, intellectual disabilities, delayed growth and development, cardiac abnormalities, and a predisposition to certain types of cancer.

Cardiofaciocutaneous syndrome (CFC): CFC syndrome is characterized by abnormalities of the heart, facial features, and skin. Individuals with CFC may have intellectual disabilities, growth delays, and feeding difficulties.

Legius syndrome: Legius syndrome is similar to neurofibromatosis type 1 (NF1) but generally milder. It is characterized by café-au-lait spots, freckling, and macrocephaly (an abnormally large head size). Unlike NF1, neurofibromas are typically absent or rare in Legius syndrome.

These are just a few examples of RASopathies, and there are other related conditions as well. The specific symptoms and severity can vary among individuals even within the same RASopathy. Management of RASopathies typically involves a multidisciplinary approach, with treatment focused on addressing the specific medical concerns associated with each condition. Genetic counseling is often recommended for affected individuals and their families to understand the inheritance patterns and recurrence risks associated with RASopathies.