Marfan syndrome is a condition that affects the connective tissues of the body. This condition most commonly targets the skeleton, eyes, heart, and blood vessels. Marfan syndrome can often be diagnosed initially by sight, although followup testing is used to confirm the diagnosis. Individuals with Marfan syndrome has several distinctive features including being unusually tall and thin with longer than average extremities. Marfan syndrome affects about 1 in every 5,000 people.

Symptoms

Individuals with Marfan syndrome often have a highly arched palate and over-crowded teeth. Their breastbone may cave inward or protrude outward. Individuals with Marfan may suffer from nearsightedness, a curved spine, flat feet, and heart murmurs.

If one parent has Marfan syndrome there is a 50 percent chance that each child he or she has will inherit the condition. Although individuals with Marfan syndrome are born with the condition, the symptoms are not always present at birth. Symptoms can develop or worsen with maturity. Just because symptoms are not visible does not mean there are not damaged areas in the body. Early and accurate diagnosis is important as early intervention leads to better long-term results.

Cause

Marfan syndrome is a genetic condition that develops when there is a defect in the gene responsible for producing proteins that give connective tissue strength and elasticity. The majority of individuals who have Marfan syndrome inherit it from a parent with the disorder, although sometimes the condition develops spontaneously. Marfan syndrome affects both sexes at an equal rate and is present in equal numbers across various ethnic groups.

Complications

Marfan syndrome can affect the body in a variety of ways, and symptoms and complications depend on the part of the body affected by the condition. Individuals who have complications of Marfan syndrome in their circulatory system are most at risk for serious health problems. If the aorta is affected, Marfan is considered potentially life-threatening. These individuals are at risk for aortic aneurysms, aortic dissection, and valve malformations.

Individuals who have symptoms of Marfan syndrome that affect their eyes may experience retinal problems, lens dislocation, and early-onset cataracts or glaucoma. For individuals with skeletal complications of Marfans syndrome, scoliosis and other abnormal curvatures of the spine can occur. Marfan syndrome can also affect the development of the ribs, which gives the breastbone a sunken or protruding appearance. Low back pain and foot pain are common in individuals with Marfan syndrome.

Pregnancy is a concern for individuals with Marfan syndrome. The increased blood volume that occurs during pregnancy puts stress on the aorta, which increases the risk of rupture. This, in addition to the high genetic component of the disorder, means that early and frequent prenatal care should be a part of any pregnancy.