Marfan Syndrome Description

Frydman (2008) reports that the person with Marfan Syndrome has a typical appearance. He or she is tall and quite thin with long spidery fingers. The length of the arms is slightly greater than the height. Other symptoms often include arched palate, crowded teeth, nearsightedness, dislocation of the lens of the eye, funnel chest or pigeon breast, scoliosis, flat feet, learning disabilities, and a small lower jaw. The severity of the disease varies. Indeed, in some cases the syndrome is so mild that few, if any, symptoms exist (Frydman, 2008).

The Mayo Clinic (2008) reports that certain emotional and psychological problems also arise in relation to those that live with

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hese cases, the NMF (2008) states the membrane surrounding the brain and spinal cord weakens with age, wearing away the bone surrounding the spinal cord. This can lead to pain in the stomach along with numbing and weakness in the legs. When the skin is the body system affected, the NMF (2008) points out that the patient will often develop stretch marks. While they pose no risk to health, they can bother those that develop them. More serious, patients with this disorder affecting their skin can also develop an abdominal hernia, which will require medical treatment. If the lungs are affected by Marfan Syndrome, lung development can be poor. Lung collapse is a very real concern. Patients can also show signs of early emphysema (even without a history of smoking). There can also be sleep-related breathing disorders. Cause of Marfan Syndrome Chan and associates (2008) state that Marfan syndrome is an inherited disease associated with a defect in a gene called Fibrillin 1, which is involved in building the elastic tissue in the body. The genetic defect causes changes in elastic tissues, especially in the aorta, eye, and skin, as well as the overgrowth of the long bones of the body. This is why people with the disorder are
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