Mendelian Gene : Marfan syndrome

Marfan syndrome is a disorder that affects the connective tissue in many parts of the body. Connective tissue provides strength and flexibility to structures such as bones, ligaments, muscles, blood vessels, and heart valves. The signs and symptoms of Marfan syndrome vary widely in severity, timing of onset, and rate of progression.

The two primary physical attributes of Marfan syndrome are vision problems caused by a dislocated lensĀ  in one or both eyes and defects in the large blood vessel that distributes blood from the heart to the rest of the body. The aorta, the large blood vessel, can weaken and stretch, which may lead to a bulge in the blood vessel wall. Stretching of the aorta may cause the aortic valve to leak, which can lead to a sudden tearing of the layers in the aorta wall (aortic dissection). Aortic dissection can be life threatening.

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