Know the Signs - Marfan Foundation

People are born with Marfan syndrome but they may not notice any features until later in life and some of these features can appear at any age. Some people have many characteristics at birth or as young children. Other people develop aortic enlargement, as teens or even as adults. Some features are progressive, meaning they can get worse as people age.

All of this makes it very important for people with Marfan syndrome to have ongoing monitoring, especially for life-threatening aspects of the condition like aortic enlargement. An accurate and early diagnosis helps to ensure proper treatment. Some treatments can prevent symptoms from getting worse and ultimately save lives.

Some Signs Are Easy to See

Every person’s experience with Marfan syndrome is slightly different. No one has every feature and people have different combinations of features. Some features of Marfan syndrome are easier to see than others. These include:

Long arms, legs and fingers
Tall and thin body type
Curved spine
Chest sinks in or sticks out
Flexible joints
Flat feet
Crowded teeth
Stretch marks on the skin that are not related to weight gain or loss

Learn More About the Key Features of Marfan Syndrome

Other signs are harder to detect

Harder-to-detect signs of Marfan syndrome include heart problems, especially those related to the aorta, the large blood vessel that carries blood away from the heart to the rest of the body. Other signs can include sudden lung collapse and eye problems, including severe nearsightedness, dislocated lens, detached retina, early glaucoma, and early cataracts. Special tests are often needed to detect these features.

Three Things I’ve Learned In 25 Years Since Diagnosis

What Does Marfan Syndrome Look Like?

Marfan syndrome can affect many parts of the body, and each person is affected differently. This is called variable expression. Features can even vary among people in the same family who have the condition. Visit our photo gallery to see the many faces and body types of Marfan syndrome.