Marfan's Syndrome

Marfan's Syndrome: Overview

Alternative names: Arachnodactyly.

Marfan's syndrome is a rare hereditary disorder that causes connective tissue to be weaker than normal.  Affected individuals are most often unusually tall and slender, with particularly long arms, legs and fingers in comparison to the rest of their body.

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Incidence; Causes and Development

This condition is thought to affect approximately one person in 10,000 in the US.

The Marfan syndrome is passed on within families from one generation to the next.  Just as children may inherit normal features such as brown eyes or curly hair from one or both parents, children can also inherit certain disorders.

Signs and Symptoms

Symptoms of the Marfan Syndrome may include one or more of the following:

  • Excessive height
  • Particularly long arms and legs with long slender fingers and toes
  • Near sightedness (myopia) and/or retinal detachment
  • Indented or protruding breast bone
  • Curvature of the spine (scoliosis)
  • Mild to severe heart problems: mitral valve prolapse; Aortic toot dilation with aortic regurgitation or aortic dissection

An arm span (fingertip to fingertip) of more than 1.05 times a person's height may suggest Marfan's syndrome.

Eye Problems
Children with the Marfan syndrome should have regular eye exams beginning at an early age.  Near sightedness (myopia) is a common condition.  It can be corrected with prescription glasses or contact lenses.  Many children experience problems with the lens of the eye (the focusing structure located just behind the pupil of the eye and held in place by ligaments).  The lens can become torn from its supports and become "dislocated."  This can cause vision problems that are mild or severe enough to interfere with progress in school.  In rare instances, the lens may need to be removed surgically.

On rare occasions, a child may suffer a detachment of the retina (the light sensitive tissue located at the back of the eye).  This causes a sudden loss of vision and requires emergency surgery.  Because of this tendency to develop eye problems, it is necessary for children to have regular eye exams with an ophthalmologist (eye specialist) to detect and treat these conditions.

People with the Marfan syndrome should also protect their eyes from injury during work and sports.  Football, racquetball, squash, boxing, diving, and other activities that may involve blows to the head or face should be avoided.

Problems With The Spine
A child with the Marfan syndrome should be checked regularly for curvature of the spine (scoliosis).  Children with scoliosis should be referred to an orthopedist (specialist in bone disorders) who may prescribe a removable brace to stabilize the spine.  In some cases, if the curve worsens, in spite of bracing, surgery may be recommended.  This type of surgery will prevent progression and may even help the spine return to its normal shape.

Problems With The Breast Bone
Surgery is occasionally recommended to correct an indented chest if it presses severely on the heart or lungs.  Some people, without significant heart or lung problems, may elect to have corrective chest surgery for purely cosmetic reasons.

Heart Problems
Heart problems can occur because the Marfan syndrome may cause leakage of the mitral or aortic heart valves.  These valves control the flow of blood through the heart.  Defects of the mitral valve may cause shortness of breath, an irregular pulse, and undue tiredness.  Defects of the aortic valve can lead to serious heart failure.  In addition, the main artery in the body, the aorta, can become dangerously weakened and rupture.  Rupture of the aorta has been a cause of sudden death in some people with unsuspected Marfan syndrome.  Keep in mind, however, that serious complications resulting from these conditions can be prevented by early diagnosis and proper treatment.

Because these heart conditions may not produce any obvious symptoms, people with Marfan syndrome must have regular checkups by a cardiologist (heart specialist) to monitor the effects of treatment and to detect possible complications.  Medications are often prescribed to reduce the strain on the heart valves and the aorta.  Some individuals may require surgery to replace the worn or weakened valves or the weakened part of the aorta.  This is major surgery, but is generally very successful and often life saving.

Since infections develop easily on defective heart valves, antibiotics are usually given before and after any surgery, tooth extractions, and even after routine dental care.

Childbearing puts extra strain on the heart.  Therefore, women with Marfan syndrome should discuss pregnancy and delivery with their doctors.

Active sports such as track, basketball, baseball, volleyball, and football, and strenuous activities such as heavy lifting also cause additional heart strain.  These activities should be avoided by both children and adults.  Since the Marfan syndrome may go undiagnosed until adulthood, parents who have Marfan syndrome should have their children checked for signs of the syndrome before allowing them to enter competitive sports or vigorous exercise programs.

Diagnosis and Tests

Because this is a rare disorder, it is important to meet with a doctor who is knowledgeable about the Marfan syndrome.  Many pediatricians and arthritis specialists are familiar with the Marfan syndrome, but if there are none in your area, you may consider meeting with a medical geneticist (specialist in inherited diseases).  Your family physician, The National Marfan Foundation, or the local chapter of the March of Dimes can refer you to medical geneticists.

Diagnosis is based on a detailed medical and family history; complete physical examination; height measurement; eye examination by an ophthalmologist; X-rays, electrocardiogram (EKG), and echocardiogram of the heart; and X-rays of the spine.  Once a diagnosis is made, ask for a referral to appropriate specialists or clinics for treatment.  Since symptoms may not be apparent until adulthood, families with a history of Marfan syndrome should alert their children's pediatrician.  At this time, no test can determine whether an unborn child does or does not have the Marfan syndrome.

Treatment and Prevention

While there is no cure, there are effective treatments, and most people with the disorder live full active lives.

On This Page

Marfan's Syndrome:

Signs, symptoms & indicators of Marfan's Syndrome:

Symptoms - Skeletal

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