Marfan Syndrome

Marfan syndrome is an inherited connective tissue disease caused by a defect in a gene that produces a protein component of connective tissue. It can affect the skeleton, eyes, heart and blood vessels, nervous system, skin and lungs. In addition to a complete medical history and physical examination, Electrocardiogram, Echocardiography, detailed eye examination, X-ray, DNA studies helps in diagnosis. Presently, there is no cure for the disorder. Treatment is based on determining which organ systems are affected and managing the problems that arise. Genetic counseling is important for people who have Marfan syndrome and are planning to have a family.

 

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