Marfan syndrome is a rare, inherited disease of the connective tissue. About 70 percent of all Marfan syndrome cases are inherited. The primary purpose of connective tissue is to hold the body together and provide a foundation for growth and development. In Marfan syndrome the connective tissue is defective, or in other words essential and a vital importance of body growth. Marfan's syndrome is so rare that there are only 2 cases per 100,000 persons. This rare disease results in abnormalities of the skeleton, heart, and eyes. Because connective tissue is found throughout the body, Marfan syndrome does not always target the heart, eyes, and skeleton; but also in the blood vessels, nervous system, skin, and even the lungs.
Marfan syndrome affects people among all races and ethnic backgrounds. It is estimated that 200,000 of the United States population currently have the disease. This disease usually appears after the age of 10.
Marfan syndrome, along with any other disease, affects different people in different ways. Some people have only mild symptoms, while others suffer more serious ones. A common characteristic of this disease is that as the person ages, the disease progresses.
In the skeletal system the disease usually includes typically tall, slim, and loose-jointed persons. Their arms, fingers, and toes may appear to be long in relation to the rest of their body. A person affected by Marfan Syndrome also appear to have long, slender faces, and the roof of their mouth may be arched, causing crowding of the teeth. Other skeletal abnormalities include a sternum (breastbone) that is either protruding or indented; a curvature of the spine, called scoliosis, and flat feet. Joints are often found to be very loose.
More than half the people who experience Marfan's syndrome have a dislocated lens of the one or both of the eyes. Usually, regular eye examinations are the key to catching and correcting any vision problems associated with Marfan syndrome.