Marfan Syndrome

Marfan syndrome is a genetic disorder that affects the connective tissue throughout the body. It is caused by mutations in the fibrillin-1 gene. Symptoms of Marfan syndrome vary widely but may include tall and thin stature, long fingers and toes, a curved spine, and heart and lung problems. People with Marfan syndrome are also at risk for aortic valve and aorta problems. Treatment may include lifestyle changes and medications to target complications, such as beta-blockers to manage heart and blood pressure issues. Early diagnosis and treatment of Marfan syndrome is important in order to prevent further complications.


From: Journal of Hereditary Diseases

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