A connective tissue disorder with four specific types; which are differentiated by their genetic causes. Signs and symptoms have no specific onset age range and the severity also ranges by person. One key sign of the condition is an enlarged aorta but symptoms are not limited to the heart. Signs and symptoms can also be found in the blood vessels, bones, joints, skin, and internal organs such as the intestines, spleen, and uterus.
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Marfan Syndrome
A inherited connective tissue disorder that involves a mutation in the gene that makes fibrillin. It most commonly affects the heart, eyes, blood vessels and skeleton. Signs and symptoms range from mild to severe and can include but are not limited to: heart murmurs, extreme nearsightedness, abnormally curved spine (scoliosis), flat feet, a breastbone the protrudes outward or dips inward, disproportionately long arms, legs and fingers, and a tall/slender build.
Neurofibromatosis
Group of autosomal dominant disorders in which tumors develop on types of nerves, bone and skin.
