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Marfan Syndrome

Common Symptoms of Marfan Syndrome

Marfan syndrome affects people in different ways, and symptoms can range from mild to severe. In most cases, the symptoms progress as the person ages.
 
Physical characteristics of people with Marfan syndrome include:
 
  • Tall and thin body type
  • Long and slender fingers
  • An arm span that exceeds body height
  • Unusually flexible joints
  • A long, narrow face, with a high roof of the mouth and crowded teeth.
 
Common symptoms of Marfan syndrome include:
 
  • Curvature of the spine
  • A sunken or barrel chest
  • The lens of one or both eyes is dislocated or off center
  • Nearsightedness and cataracts (clouding of the lens).
 
Most people with Marfan syndrome symptoms have abnormalities associated with the heart and blood vessels. Leaks in the heart valves can cause shortness of breath, fatigue, and a fast, irregular heartbeat.
 
The aorta (the large blood vessel that carries blood from the heart to the rest of the body) can weaken and stretch, and an abnormal bulging (called an aneurysm) may develop in the weakened aorta. If the aorta tears or ruptures, serious heart problems may occur, including sudden death.

(Click Symptoms of Marfan Syndrome for more information.)
 

Making a Diagnosis

Although there is not a specific laboratory test that is used to make a diagnosis of this condition, your doctor or geneticist (a doctor with special knowledge about inherited diseases) will rely on:
 
  • Observation
  • A complete medical history
  • A physical exam
  • Tests.
 
Doctors will diagnose Marfan syndrome if the patient has a family history of the disease, and if there are specific problems in at least two of the body systems.
 
Patients who do not have a family history of Marfan syndrome must have problems in at least three body systems before a diagnosis will be made. In addition, two of the body systems must show clear signs that are relatively specific to Marfan syndrome.

(Click Marfan Syndrome Diagnosis for more information about the diagnosis of this syndrome.)
 
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Marfan -- The Disease

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