Marfan Syndrome

Marfan syndrome is a genetic disorder that affects the body’s connective tissue. Connective tissue holds all the body’s cells, organs and tissue together. It also plays an important role in helping the body grow and develop properly. Connective tissue is made up of proteins. The protein that plays a role in Marfan syndrome is called fibrillin-1.

Marfan syndrome is caused by a defect (or mutation) in the gene that tells the body how to make fibrillin-1. This mutation results in an increase in a protein called transforming growth factor beta, or TGF-β. The increase in TGF-β causes problems in connective tissues throughout the body, which in turn creates the features and medical problems associated with Marfan syndrome and some related conditions.

Because connective tissue is found throughout the body, Marfan syndrome can affect many different parts of the body, as well. Features of the disorder are most often found in the heart, blood vessels, bones, joints, and eyes. The lungs, skin and nervous system may also be affected. Marfan syndrome does not affect intelligence.

Causes of Marfan Syndrome

As previously mentioned, Marfan syndrome is caused by a defect (or mutation) in the gene that tells the body how to make fibrillin-1. This mutation results in an increase in a protein called transforming growth factor beta, or TGF-β.

Symptoms of Marfan Syndrome

The signs and symptoms of Marfan syndrome vary greatly. Some of the most noticeable ones include:

  • Tall and slender build
  • Disproportionately long arms, legs and fingers
  • A high, arched palate and crowded teeth
  • Heart murmurs
  • Pectus excavatum
  • Extreme nearsightedness
  • Abnormal curved spine
  • Flat feet

Diagnosis of Marfan Syndrome

Marfan syndrome can be challenging for doctors to diagnose because many connective tissue disorders have similar signs and symptoms. In some cases, a person may have some features of Marfan syndrome, but not enough of them to be diagnosed with the disorder. Either way, your doctor will ask you about your symptoms and perform a physical exam. You doctor will then proceed to perform one or more of the following tests:

Diagnostic tests and procedures

Treatment of Marfan Syndrome

While there is no cure for Marfan syndrome, treatment focuses on preventing the various complications of the disease. To accomplish this, you'll need to be checked regularly for signs that the damage caused by the disease is progressing. Consult with your doctor.



Saint Barnabas Medical Center
94 Old Short Hills Road
Livingston, NJ 07039
(973) 322-5000
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Monmouth Medical Center
300 Second Avenue
Long Branch, NJ 07740
(732) 222-5200
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Monmouth Medical Center Southern Campus
600 River Avenue
Lakewood, NJ 08701
(732) 363-1900
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Clara Maass Medical Center
1 Clara Maass Drive
Belleville, NJ 07109
(973) 450-2000
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Community Medical Center
99 Highway 37 West
Toms River, NJ 08755
(732) 557-8000
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Newark Beth Israel Medical Center
201 Lyons Avenue at Osborne Terrace
Newark, NJ 07112
(973) 926-7000
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Jersey City Medical Center
355 Grand Street
Jersey City, NJ 07302
(201) 915-2000
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RWJ University Hospital Hamilton
1 Hamilton Health Place
Hamilton, NJ 08690
(609) 586-7900
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Robert Wood Johnson University Hospital
1 Robert Wood Johnson Place
New Brunswick, NJ 08901
(732) 828-3000
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RWJ University Hospital Rahway
865 Stone Street
Rahway, NJ 07065
(732) 381-4200
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RWJ University Hospital Somerset
110 Rehill Avenue
Somerville, NJ 08876
(908) 685-2200
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Marfan Syndrome Treatment & Care

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