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Cardiofaciocutaneous Syndrome

What is Cardiofaciocutaneous Syndrome?

Cardiofaciocutaneous (CFC) syndrome is a rare genetic condition that affects 200-400 people worldwide. Common features of CFC syndrome include congenital heart disease, characteristic facial features and skin abnormalities. Almost everyone with CFC syndrome will have some range of intellectual disabilities, ranging from mild to severe. It is classified as a RASopathy, a group of conditions caused by mutations in genes involved in the RAS / MAPK signaling pathway, which is crucial for cell growth and development.

Last Updated 09/2025

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