Cara Borian

The RASopathies are a group of rare genetic conditions caused by mutations in genes of the Ras-MAPK pathway. Abnormalities of this pathway have profound effects on development and can cause one of several different syndromes, including: Cardio-Facio-Cutaneous (CFC), Costello (CS), and Noonan (NS). These syndromes share many clinical features such as distinct facial features, developmental delays, cardiac defects, growth delays, neurologic issues, gastrointestinal difficulties, and sometimes cancer. While these individual syndromes are rare, as a group, the RASopathies are among the most common genetic conditions in the world.

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