Marfan’s Syndrome

Are you excessively tall? Do you have long bones that aren’t proportionate to the rest of your body? Perhaps you have Marfan’s syndrome. Marfan’s syndrome (arachnodactyly) is a rare inherited disorder of connective tissue that causes defects in the eyes, skeleton and cardiovascular system. It affects both males and females and may occur any time from early infancy to adulthood.

The symptoms of Marfan’s syndrome develop gradually over the years. These include long slender bones which make a person excessively tall, long slender fingers and toes, heart defects and a partial dislocation of the lenses of the eyes.

“The most common signs of this disease are skeletal abnormalities particularly excessively long tubular bones and an arm span exceeding the patient’s height. Usually the patient is taller than average for his family, with the upper half of his body shorter than average and the lower half, longer,” according to Helen L. Davis of the Thomas Jefferson University Hospital, Philadelphia in “Diseases.”

“His fingers are long and slender (spider fingers). Weakness of ligaments, tendons and joint capsules results in joints that are loose, hyperextensible, and habitually dislocated. Excessive growth of the rib bones give rise to chest deformities,” she added.

Other symptoms are pectus excavatum (funnel breast), frequent hernia and scoliosis (the sideways curvature of the spine). Death from Marfan’s syndrome is often due to cardiovascular complications.

In severe cases, the elastic fibers in the media (middle layer) of the aorta (the main artery of the body) may be damaged, leading to aneurysm (a ballonlike swelling).

There is no specific test for Marfan’s syndrome and the diagnosis is made mainly on its symptoms. Treatment is aimed at relieving symptoms and preventing complications. These include surgery to repair aneurysm, eye defects and spinal curvature, and hormone therapy to stop the patient from growing abnormally tall.