Marfan syndrome: Symptoms, causes, and diagnosis

Marfan syndrome is a genetic condition that affects connective tissues. It can impact different parts of the human body, including the heart, blood vessels, lungs, skin, bones, joints, and eyes.

Connective tissues are complex structures that help to provide support to other tissue and organs.

The effects of Marfan syndrome range from mild to life-threatening. The most serious complications include damage to the heart valves, aorta, or both. It has no impact on cognitive ability.

It is mainly an inherited condition, affecting 1 in every 5,000 people.

There is no cure, but therapy can improve quality of life for a person with the condition and prevent potentially dangerous complications. Timely treatment can mean that a person with Marfan syndrome has the same life expectancy as an individual who does not have the condition.

Fast facts on Marfan syndrome

Marfan syndrome is a genetic condition that can cause a wide variety of heart, eye, and skeletal problems.

Symptoms often include unusually long arms and fingers, advanced height, and tears in the aorta. They may not become noticeable until adulthood.

The condition is caused by limitations in a gene that strengthens the connective tissue.

There is no cure for Marfan syndrome, but symptoms can be managed and relieved.

A person with Marfan syndrome can have a normal life expectancy when the correct preventive measures are taken.


Marfan hand.<!--mce:protected %0A--><br>Image credit: Staufenbiel, I., Hauschild, C., Kahl-Nieke, B., Vahle-Hinz, E., von Kodolitsch, Y., Berner, M., Bauss, O., Geurtsen, W., & Rahman, A.</br>
People with Marfan syndrome often have elongated fingers and hands.

Image credit: Staufenbiel, I., Hauschild, C., Kahl-Nieke, B., Vahle-Hinz, E., von Kodolitsch, Y., Berner, M., Bauss, O., Geurtsen, W., & Rahman, A.

As Marfan syndrome can affect various parts of the body, the symptoms can vary greatly between people.

However, people with Marfan syndrome commonly have a unique physical build.

They will often experience tears and widening in the aorta, or the large blood vessel leading from the heart.

Different people with Marfan syndrome will demonstrate different symptoms.

Symptoms may show in the skeleton, eyes, and cardiovascular system. In some people, symptoms are mild and limited to certain body parts. In others, they are severe and affect several body parts. Symptoms of Marfan syndrome tend to worsen with age.

Signs and symptoms that may appear in the skeletal system include:

long limbs with thin and weak wrists

stooped shoulders

very long and slender fingers and toes, or both

the sternum, or breastbone, protrudes or caves in

extremely flexible joints

long and narrow face

small bottom jaw that may cause speech disorders

overcrowded teeth

slim body and taller than average height

flat feet

high palate that may cause speech disorders

stretch marks on the skin not due to pregnancy or weight gain

pain in the joints, bones, and muscles

The long limbs unique to Marfan syndrome often mean that the arm span of the individual is longer than their height.

There is a higher risk of developing scoliosis, or curvature of the spine, spondylolisthesis, and dural ectasia. Dural ectasia is the widening or ballooning of the dural sac that surrounds the spinal cord.

Problems related to the eyes include:



dislocation of the lens

detached retina

Marfan syndrome may also lead to early-onset glaucoma and cataracts.

The aortic irregularities in Marfan syndrome can lead to the following cardiac issues:


shortness of breath

palpitations or heart murmur

angina, with pain in the chest spreading to the back, shoulder or arm

prolapse of the heart valves, including the aorta

dilated aorta

aortic aneurysm

Symptoms of Marfan syndrome may not appear until later in life.

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Genetic baby illustration
Marfan syndrome is caused by either a hereditary or random mutation in a person’s genetic code.

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