What Is It?
Marfan's syndrome is a genetic (inherited) disorder that affects the body's connective tissue. Connective tissue is the tough, fibrous, elastic tissue that connects one part of the body with another. It is a major part of tendons, ligaments, bones, cartilage and the walls of large blood vessels. In Marfan's syndrome, the body can't produce enough fibrillin, an important building block of connective tissue.
The problem in Marfan's syndrome is caused by a mutation (change) in a gene. Genes are segments of DNA that direct the body to produce proteins. In many families with inherited Marfan's syndrome, the mutation affects the FBN1 gene on chromosome 15, although a second gene on chromosome 5 may be involved in some cases.
Because of the inherited problem producing fibrillin, people with Marfan's syndrome have from many different problems related to weakness in connective tissue. These problems include:
Health experts estimate that about 200,000 people in the United States have Marfan's or related syndromes, and the disorder probably affects one out of every 10,000 newborns.
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