• What Is Marfan Syndrome?

    Reviewed By Stephen N Lipsky MD
    Oct. 23, 2020

    Marfan syndrome is a genetic condition that affects the body’s connective tissue. Connective tissue holds all parts of the body together and helps control how the body grows.

    Connective tissue is all over the body. Because of this, Marfan syndrome can affect many different parts of the body.

    Marfan syndrome can affect:

    • the heart
    • blood vessels
    • bones
    • joints, and
    • eyes

    People are born with this condition, but the symptoms of Marfan syndrome may not appear for a while.

    What Are the Symptoms of Marfan Syndrome?

    Symptoms of Marfan syndrome can involve many parts of the body.

    People with Marfan syndrome usually first notice its effect on their skeletal development. Someone with Marfan syndrome is usually very tall, thin, and loose-jointed. When they stretch out their arms from their sides, their arm length from one side to the other is greater than their height.

    Other common Marfan syndrome symptoms include:

    • long, slender fingers and toes
    • curvature of the spine
    • protruding or indented breastbone
    • bands of thin, wrinkled skin around the hips, shoulders or lower back
    • cardiovascular problems (heart murmurs, enlarged or bulging aorta)

    Eye Symptoms of Marfan Syndrome

    Eye problems are common in people with Marfan syndrome. Most people with Marfan syndrome have myopia (nearsightedness) and astigmatism. More than half of people with Marfan syndrome have a condition called ectopia lentis. With ectopia lentis the eye’s lens becomes dislocated. Because the lens helps focus light rays on the retina, visual acuity worsens. Ectopia lentis is a key symptom of Marfan syndrome and is often the first sign of the disorder.

    Other Marfan syndrome symptoms involving the eye include:

    • thinning of the cornea
    • flattened curvature of the cornea
    • early onset of cataracts (clouding of the eye’s normally clear lens)
    • Glaucoma (high pressure inside the eye that can lead to vision loss)
    • Strabismus (when the eyes are not aligned properly and point in different directions)
    • retinal detachment (when the light sensitive tissue peels off from the back of the eye)

    Who Is at Risk for Marfan Syndrome?

    The cause of Marfan syndrome is a mutation on a gene that tells the body how to make fibrillin. Fibrillin is a critical part of connective tissue.

    Marfan syndrome is usually an inherited genetic disorder. Three of four people with Marfan syndrome inherited it from a parent. That means you are at greatest risk if you have a parent with Marfan syndrome. A parent with Marfan syndrome has a 50-50 chance of passing the defective gene along to his or her children.

    About one-quarter (1 out of 4) of Marfan syndrome cases are not inherited. This means these people have a spontaneous new gene defect. The disorder affects both sexes equally and can occur in any ethnic group.