Marfan Syndrome

Fact: Approximately 1 in 5000 people have Marfan Syndrome

What is Marfan Syndrome?

Marfan syndrome is a disorder that affects connective tissue. It is usually passed from parent to child through the genes, but may result from a new gene mutation.

What is Connective Tissue?
Connective tissue supports many parts of your body. You can think of it as a type of “glue” between cells that:

  • Helps bring nutrients to the tissues
  • Gives tissues form and strength
  • Helps some tissues do their work.

If you have Marfan syndrome, many body systems can be affected, such as:

  • Skeleton
  • Heart and blood vessels
  • Eyes
  • Skin
  • Nervous system
  • Lungs.
How does Marfan Syndrome effect the body?

If you have Marfan syndrome, many body systems can be affected, such as:
  • Skeleton
  • Heart and blood vessels
  • Eyes
  • Skin
  • Nervous system
  • Lungs.
Who gets Marfan Syndrome?

About 1 in 5,000 people have Marfan syndrome, including men and women of all races and ethnic groups. About 3 out of 4 people with Marfan syndrome inherit it, meaning they get the genetic mutation from a parent who has it. But some people with Marfan syndrome are the first in their family to have it; when this happens it is called a spontaneous mutation. There is a 50 percent chance that a person with Marfan syndrome will pass along the genetic mutation each time they have a child.
Are there any related disorders?

The answer is YES!  Disorders include:
  • Ehlers Danlos Syndrome
  • Loeys-Dietz Syndrome
  • Familial Thoracic Aortic Aneurysm & Dissection
  • Mass Phenotype
  • Ectopia Lentis Syndrome
  • Beals Syndrome
  • Bicuspid Aortic Valve
  • Stickler Syndrome
  • Shprintzen-Goldberg Syndrome

What are the symptoms of Marfan Syndrome?

What Are the Symptoms of Marfan Syndrome?Marfan syndrome affects people in different ways. Some people have only mild symptoms, and others have severe problems. Most of the time, the symptoms get worse as the person gets older.

People with Marfan syndrome are often very tall, thin, and loose jointed. They may have:

  • Bones (arms, legs, fingers, and toes) that are longer than normal
  • A long, narrow face
  • Crowded teeth because the roof of the mouth is arched
  • A breastbone that sticks out or caves in
  • A curved backbone
  • Flat feet.

Heart and blood vessels
Most people with Marfan syndrome have problems with the heart and blood vessels, such as:

  • A weak part of the aorta (the large artery that carries blood from the heart to the rest of the body). The aorta can tear or rupture.
  • Heart valves that leak, causing a “heart murmur.” Large leaks may cause shortness of breath, fatigue, and a very fast or uneven heart rate.

Some people with Marfan syndrome have problems with the eyes, such as:

  • Nearsightedness
  • Glaucoma (high pressure within the eye) at a young age
  • Cataracts (the eye’s lens becomes cloudy)
  • A shift in one or both lenses of the eye
  • A detached retina in the eye.

Many people with Marfan syndrome have:

  • Stretch marks on the skin. These are not a health problem.
  • A hernia (part of an internal organ that pushes through an opening in the organ’s wall).

Nervous system
The brain and spinal cord are covered by fluid and a membrane. The membrane is made of connective tissue. When people with Marfan syndrome get older, the membrane may weaken and stretch. This affects the bones in the lower backbone (spine). Symptoms of this problem include:

  • Painful abdomen
  • Painful, numb, or weak legs.

People with Marfan syndrome do not often have problems with their lungs. If symptoms in the lungs do arise, they may include:

  • Stiff air sacs in the lungs.
  • A collapsed lung if the air sacs become stretched or swollen.
  • Snoring or not breathing for short periods (called sleep apnea) while sleeping.
Want to learn more?

The following are organizations and/or websites dedicated to providing information and education surrounding Marfan Syndrome. These organizations are dedicated to research, education, awareness, and/or support. They are listed in Alphabetical order without any preference or prejudice. Listing these organizations is not a recommendation or referral in any regard for seeking treatment or consultation or support for treatment.

**Information taken directly from The Marfan Foundation and the National Institute of Arthritis and Musculoskeletal and Skin Diseases**