Common Symptoms of Marfan Syndrome

What is Marfan Syndrome?

Marfan Syndrome is a genetic disorder that affects the connective tissue. Since connective tissue is found throughout the body, this can cause symptoms related to the skeleton, eyes, heart, and blood vessels. Even the skin can be affected. Marfan symptoms are caused by a mutation in the FBN1 gene. People with this disorder can have several different Marfan related symptoms, or traits.

Marfan Syndrome can lead to dangerous complications, so make sure to see a doctor if you have the following Marfan symptoms.

Marfan Symptoms

There are several classic symptoms of Marfan Syndrome, though a person does not have to exhibit all of these symptoms. According to the National Marfan Foundation, the most common Marfan symptoms include:

Tall stature
Disproportionately long arms and legs
Loose joints
Indented or protruding chest bone
Scoliosis
Flat feet
Nearsightedness
Dislocated lens

Other Marfan Symptoms

There are other less obvious Marfan symptoms. These symptoms can affect many different areas of the body. These symptoms of Marfan include:

Enlarged aorta
Separation of aortic layers
Mitral Valve Prolapse
Long, thin fingers
Crowded teeth
Detached retina
Early glaucoma
Early cataracts
Stretch marks (not due to pregnancy or weight gain)
Sudden lung collapse
Dural Ectasia (swelling of the sac around the spinal column)

A Closer Look at Marfan Symptoms

Tall stature is a hallmark sign of Marfan Syndrome. However, the majority of tall people do not have Marfan Syndrome. How can you tell if you are just a naturally tall person or if you have Marfan Syndrome?

There are a few ways that you can test these symptoms at home; however, you should let your doctor know if you think you might have Marfan Syndrome. As every individual with Marfan symptoms displays different traits, you should not self-diagnose or rule out Marfan Syndrome solely on these tests.

Most people with Marfan Syndrome have extremely long limbs. You can measure your arm span (when your arms are stretched out to your sides, parallel with the floor) and compare your arm span to your height. If your arm span is greater than your height, this could be a symptom of Marfan Syndrome.

Another easy test is called “positive wrist sign”. Wrap your fingers around your wrist. If your fingers overlap, this could be a symptom of Marfan Syndrome. Most people’s fingers barely touch or don’t touch at all. An elongated arm bone and long fingers allow for positive wrist sign.

Put your thumb on your hand (use the same thumb and hand). If your thumb extends beyond your palm, you have “positive thumb sign”. This is another possible Marfan symptom.

It is possible to have Marfan Syndrome even if you do not notice anything unusual after performing the previous self tests. If you believe you may have Marfan Syndrome, let your doctor know. There are many different Marfan symptoms that cannot be detected without the use of medical equipment. In order for a doctor to make a diagnosis of Marfan Syndrome, you must be thoroughly examined for Marfan symptoms in a variety of body systems.

Sources
National Marfan Foundation, marfan.org/marfan/
National Heart Lung and Blood Institute, What Is Marfan Syndrome? nhlbi.nih.gov/health/dci/Diseases/mar/mar_whatis.html