Marfan Syndrome- Medical Genetics
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Marfan Syndrome (MFS) is a genetic disorder of the connective tissue. The degree to which people are affected varies. People with Marfan tend to be tall, and thin, with long arms, legs, fingers, and toes. They also typically have flexible joints and scoliosis. The most serious complications involve the heart and aorta with an increased risk of mitral valve prolapse and aortic aneurysm. Other commonly affected areas include the lungs, eyes, bones and the covering of the spinal cord.
MFS is an autosomal dominant disorder. About 75% of the time, the condition is inherited from a parent, while 25% of the time it is a new mutation. It involves a mutation to the gene that makes fibrillin, which results in abnormal connective tissue. Diagnosis is often based on the Ghent criteria.