What is Marfan Syndrome

Marfan syndrome is a connective tissue disorder, so affects many structures, including the skeleton, lungs, eyes, heart and blood vessels. The disease is characterized by unusually long limbs, and is believed to have affected Abraham Lincoln. It is named for Antoine Marfan, the French pediatrician who first described it in 1896.

What are the symptoms

More than half of all people with Marfan syndrome experience dislocation of one or both lenses of the eye. The lens may be slightly higher or lower than normal and may be shifted off to one side. The dislocation may be minimal, or it may be pronounced and obvious. Retinal detachment is a possible serious complication of this disorder. Many people with Marfan syndrome are also nearsighted (myopic), and some can develop early glaucoma (high pressure within the eye) or cataracts (the eye's lens loses its clearness).
Below is a list of signs and symptoms of Marfan Syndrome. Note that Marfan syndrome symptoms usually refer to various symptoms known to a patient, but the phrase Marfan syndrome signs may refer to those signs only noticeable by a doctor:


Skeletal abnormalities
Long bones
Long fingers
Spider-like fingers
Long legs
Long arms
Long toes
Loose joints
Narrow face
Protruding sternum
Indented sternum
Curvature of the spine (scoliosis)
Flat feet
Eye abnormalities
Lens abnormality
Lens dislocation
Heart abnormalities and related

Aorta enlargement
Abnormal valve motion
Heart murmur
Aortic dilation
Shortness of breath
Nervous system problems
Dural ectasia
Radiated abdominal pain
Leg pain
Leg numbness
Leg weakness
Skin abnormalities
Stretch marks
Breathing problems - generally rare despite the lung abnormalities
Sleep-related breathing disorders
Sleep apnea

People with Marfan syndrome tend to have excessively long bones and are commonly thin, with long, "spider-like" fingers. Other problems include skeletal malformations, abnormal position of the lens of the eye, and enlargement at the beginning part of the aorta, the major vessel carrying blood away from the heart. If left untreated, an enlarged aorta can lead to hemorrhage and even death.

What causes Marfan Syndrome

This disorder results from mutations in the gene that makes fibrillin-1, a protein important to connective tissue.