Because Marfan syndrome is a connective tissue disorder, symptoms can involve many different parts of the body.
Often people with Marfan syndrome are first evaluated for the disease because of 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, including heart murmurs and an enlarged or bulging aorta, the main blood vessel that carries blood from the heart.
Eye Symptoms of Marfan Syndrome
Eye problems are common in people with Marfan syndrome. Most people with Marfan syndrome suffer from myopia (nearsightedness) and astigmatism. More than half of people with Marfan syndrome have a condition called ectopia lentis. Ectopia lentis occurs when the eye’s lens, which helps focus light rays on the retina, becomes dislocated. As a result, visual acuity worsens. Ectopia lentis is considered 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;
- strabismus; or
- retinal detachment.
Next Page: Who Is at Risk for Marfan Syndrome?