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Marfan Syndrome
The Marfan syndrome is a heritable condition that affects the connective tissue. The primary purpose of connective tissue is to hold the body together and provide a framework for growth and development. In the Marfan syndrome, the connective tissue is defective and does not act as it should. Because connective tissue is found throughout the body, the Marfan syndrome can affect many body systems, including the skeleton, eyes, heart and blood vessels, nervous system, skin and lungs.

The Marfan syndrome affects men, women and children, and has been found among people of all races and ethnic backgrounds. It is estimated that at least 1 in 5,000 people in the United States have the disorder
Diagnosis
Although the gene for the Marfan syndrome has been found, there is no simple blood test or skin biopsy to make the diagnosis. The diagnosis needs to be made after examinations by a number of doctors, including a doctor who specializes in bones (orthopedists), eyes (ophthalmologist) and heart (cardiologist), as well as a medical geneticist (a doctor with special knowledge about inherited diseases). The exam includes:
• information about any family members who may have the disorder or who had an early, unexplained heart-related death
• a thorough physical examination, including an evaluation of the skeleton for the ratio of arm/leg size to trunk size and other changes that affect the bones and joints
• an eye examination, including a "slit lamp" evaluation by an eye doctor (ophthalmologist) after fully dilating the pupil
• heart tests such as an echocardiogram (a sound-wave picture) by a heart doctor (cardiologist) used to examine the heart valves and aorta.
One doctor should coordinate the findings from all examinations. The medical geneticist most commonly handles this.

The doctor may diagnose the Marfan syndrome if the patient has a family history of the condition and...