Disorders of connective tissue affect the skeletal system, cardiovascular system, eyes, and skin.
Causes, incidence, and risk factors
Marfan syndrome is caused by defects in a gene called fibrillin-1. Fibrillin-1 plays an important role as the building block for connective tissue in the body.
The gene defect also causes too much growth of the long bones of the body. This causes the tall height and long arms and legs seen in people with this syndrome. How this overgrowth happens is not well understood.
Other areas of the body that are affected include:
•Lung tissue (there may be a pneumothorax, in which air can escape from the lung into the chest cavity and collapse the lung)
•The aorta, the main blood vessel that takes blood from the heart to the body may stretch or become weak (called aortic dilation or aortic aneurysm)
•The eyes, causing cataracts and other problems (such as a dislocation of the lenses)
•The skin
•Tissue covering the spinal cord
In most cases, Marfan syndrome is inherited, which means it is passed down through families. However, up to 30% of patients have no family history, which is called "sporadic." In sporadic cases, the syndrome is believed to be caused by a new gene change.
Symptoms
People with Marfan syndrome are usually tall with long, thin arms and legs and spider-like fingers -- called arachnodactyly. When they stretch out their arms, the length of their arms is greater than their height.
Other symptoms include:
•A chest that sinks in or sticks out -- funnel chest (pectus excavatum) or pigeon breast (pectus carinatum)
•Flat feet
•Highly arched palate and crowded teeth,
•Learning disability
•Movement of the lens of the eye from its normal position (dislocation)
•Nearsightedness
•Small lower jaw (micrognathia)
•Spine that curves to one side (scoliosis)
•Thin, narrow face
Signs and tests
The doctor will perform a