Marfan syndrome is genetic condition affecting the body’s genetic tissue. Marfan syndrome affects roughly 1 out of every 5,000 people. The condition can affect connective tissue throughout many different parts of the body, including the heart, blood vessels, bones, joints, and eyes.
Because Marfan syndrome can impact vital processes in the body, it can become life-threatening. Knowing the signs of Marfan syndrome and seeking medical care for critical issues is key for people with the condition.
Visible signs of Marfan syndrome
Some signs of Marfan syndrome are easy to see because they affect the size and shape of certain parts of the body. Marfan syndrome can affect people in different ways, but some common visible signs of the condition include:
- Long arms, legs, and fingers
- Tall, thin body type
- Curved spine
- Chest sinks or sticks out
- Flexible joints
- Crowded teeth
- Stretch marks not related to weight gain or weight loss
Harder-to-see signs of Marfan syndrome
Other signs of Marfan syndrome affect the body’s internal organs and systems. Connective tissue is found throughout the body, meaning Marfan syndrome can impact several different areas of the body. Not everyone with Marfan syndrome will experience the same signs or symptoms, but some critical signs to look for may include:
- Heart problems, especially related to the aorta
- Sudden lung collapse
- Eye problems, including severe nearsightedness, dislocated lens, detached retina, early glaucoma, and early cataracts
Aortic complications of Marfan syndrome
While Marfan syndrome can affect connective tissue throughout the body, the condition can cause dangerous complications related to the aorta. These can include:
- Aortic aneurysm: When a section of the aorta becomes weakened and bulges outward.
- Aortic dissection: When a tear forms in the aorta, causing blood to flow into the wall of the aorta and split its layers.
Living with Marfan syndrome
People with Marfan syndrome can live long, productive lives. The condition can cause serious medical concerns, but with proper diagnosis, monitoring, and treatment, Marfan syndrome can be managed.
If you or a loved one suspect signs of Marfan syndrome, the first step is to consult with a health care professional to seek an accurate medical diagnosis.
The Marfan Foundation website offers helpful education and resources for patients, families, and medical professionals to learn more about Marfan syndrome.
Aortic surgeons at WashU Medicine specialize in treatment for issues related to Marfan syndrome.
Read next: Marfan syndrome, connective tissue, and the aorta