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Marfan Syndrome Signs, Symptoms, Causes, Treatment and Life Expectancy

Reviewed on 2/24/2020

What Is Marfan Syndrome?

Picture of syringomas on the eyelids of a Marfan syndrome patient.
Picture of syringomas on the eyelids of a patient with Marfan syndrome.
  • Marfan syndrome is a genetic disorder characterized by problems with connective tissue in the body. Connective tissue is the material that holds the cells and organs of the body in their proper location.
  • About 1 out of every 5,000 people have Marfan syndrome.
  • It affects both men and women as well as people of all racial and ethnic groups.

What Are the Early Signs and Symptoms of Marfan Syndrome?

People are born with Marfan syndrome, but the age at which signs and symptoms appear is variable. Some people with Marfan syndrome show signs in early childhood or even at birth, while others may not have signs or symptoms until teens or adulthood. 

Body symptoms that are most affected by Marfan syndrome are:

Skeletal Issues

  • Long, narrow face
  • Roof of the mouth may arch and causes crowded teeth
  • Scoliosis

Eye Problems and Diseases

Cardiovascular System (Heart and Blood Vessels)

Nervous system problems like dural ectasia, which causes:

  • Radiating pain in the abdomen
  • Numbness
  • Weakness in the legs

Skin Problems

Lung Problems and Disorders

What Are the Characteristics and Features of Marfan Syndrome?

The damage to connective tissues in people with Marfan syndrome results in characteristic signs and symptoms. Symptoms include:

  • Tall, thin body
  • Long arms and legs
  • Elongated fingers and toes
  • Highly flexible or hyperextensible joints
  • Curved spine
  • Flat feet
  • Abnormal shape of the chest (sunken in or protruding)
  • Stretch marks on skin
  • High, arched palate
  • Crowding teeth

There are other potential health problems associated with Marfan syndrome that are more difficult to detect, including:

Pregnancy may increase the risk of heart complications.

Signs and symptoms vary in severity among affected people. In some people, the symptoms are progressive, meaning that they worsen over time.

What Causes Marfan Syndrome?

Marfan syndrome is caused by a defect (mutation) in the FBN1 gene that controls the production of fibrillin-1. It is inherited in an autosomal dominant pattern, meaning that only one copy of the defective gene is necessary (from either the mother or father) to cause the condition. However, about 25% of cases are sporadic, meaning that they arise as a result of new mutations in the FBN1 gene in people who do not have a family history of the condition.

What Does Marfan Syndrome Do to the Body?

The defective fibrillin-1 protein in Marfan syndrome affects the structure and function of microfibrils, threadlike structures that are part of the connective tissue of the body. This leads to characteristic signs and symptoms described earlier.

What Procedures and Tests Diagnose Marfan Syndrome?

A physical examination may reveal characteristic physical features of Marfan syndrome. The diagnosis is confirmed by genetic testing to reveal the mutation in the FBN1 gene. 

What Is the Treatment for Marfan Syndrome?

Marfan syndrome treatments are directed at controlling the underlying symptoms. For example:

  • Surgeries may be required to correct problems with the heart or aorta.
  • Surgical procedures can also correct the appearance of an abnormal breastbone.
  • Bracing and other treatments can help relieve scoliosis, or curvature of the spine.
  • Drugs to lower blood pressure may help prevent enlargement of the aorta.

Can Marfan Syndrome Be Cured?

With access to modern medical management, most people with Marfan syndrome have a normal life expectancy. However;some people have died of the complications of Marfan syndrome. There is no cure for Marfan syndrome.

Can You Prevent Marfan Syndrome?

Since Marfan syndrome results from a genetic defect, there is no known way to prevent it from developing.

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Reviewed on 2/24/2020
References
Marfan Syndrome. The Marfan Foundation. 2014.
https://www.marfan.org/about/marfan>

Marfan syndrome. National Library of Medicine, Genetics Home Reference. Reviewed May 2018.
<https://ghr.nlm.nih.gov/condition/marfan-syndrome>

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