Marfan Syndrome is a disorder of the connective tissue. Disorders of connective tissue affect the cardiovascular system, skeletal system, eyes and skin.
Marfan Syndrome is caused by defects in a gene called fibrillin-1. This gene plays an important role as the building block for connective tissue in the body.
The fibrillin-1 defect also causes the long bones of the body to grow too much. People with this syndrome are tall and have long arms and legs. How this overgrowth happens is not well understood.
The gene defect can also cause the aorta, the main blood vessel that takes blood from the heart to the body, to stretch or become weak. This is called aortic dilation or aortic aneurysm.
In most cases, Marfan Syndrome is passed down through families. However, up to 30 percent of people have no family history of the gene defect, and the syndrome is believed to be caused by a new gene change.
People with Marfan Syndrome are very often tall with long, thin arms and legs and spider-like fingers.
Many people with Marfan Syndrome suffer from chronic muscle and joint pain.