The Marfan syndrome is a disorder that is an inherited from the parents of a person. The disorder is mainly a connective tissue problem that affects a large amount of organs, the skeleton, lungs, eyes, heart and blood vessels. The condition affects both men and women of any race or ethnic group. The disorder is not biased to any type of person. Through out the United States there are at least 200,000 people with Marfan or a related connective tissue disorder. It effects one out of every thousand. Marfan syndrome damages the cardiovascular, musculo-skeletal, and ocular systems of a patient. Without proper diagnosis and treatment, a person's life with Marfan syndrome could become endangered. Dr. Antoice Marfan discovered Marfan syndrome in 1896. It is the most common inherited disorder. .
Marfan comes from an abnormal gene. The affected person usually received the gene from one of their parents that also was affected. Of the 200,000 cases in the U.S. one-quarter are a result of a spontaneous mutation in the gene. The Marfan syndrome is dominant gene disorder; this means someone with the disease has a 50-50 chance that their children will also inherited the disease. Marfan syndrome has been linked to the FBN1 gene on chromosome 15. FBN1 encodes a protein called fibrillin, which is essential for the formation of elastic fibers found in connective tissue. .
Without the structural support provided by fibrillin, many tissues are weakened, which can have great consequences, for example, ruptures in the walls of major arteries. .
The disease is characterized by unusually long limbs, and is believed to have affected Abraham Lincoln. Often Marfan patients dislocate their arms, legs, hips, and fingers. People with Marfan also tend to have a caved in chest or a chest that points out from the rest of the body. The aorta also is greatly larger then the average persons. Generally the aorta is wider and more fragile in-patients with the Marfan syndrome.