Marfan Syndrome

Background and History: 

This disorder was first reported by a French pediatrician named Antoine Bernard-Jean Marfan in 1896 and the cardinal features were described further in the early 20th century as more cases were identified.  The causative mutation was identified in the late 20th century.

Clinical Correlations: 

The clinical consequences result from a weakness in connective tissue.  The major signs and symptoms are located in the eye, skeleton, and the heart.  The eyeball is larger than normal causing near-sightedness and a susceptibility to detachment of the retina.  The lens of the eye is nearly always displaced.  Individuals with the Marfan syndrome are often tall with disproportionately long limbs.  The digits are long and 'spiderly' while the joints are lax and flexible.  The hard palate of the mouth is highly arched and narrow.  Abnormal curvature of the spine is common and the 'breast bone' is often shaped abnormally.  Heart valves may not close properly leading to extra stress on heart function.  The large vessels such as the aorta and the artery to the lungs have weakened walls and sometimes blood dissects into the walls, a life threatening condition.


The Marfan syndrome is inherited in an autosomal dominant pattern.  Only one chromosome needs to contain the mutation and therefore many cases appear as direct offspring of affected parents.

Diagnosis and Prognosis: 

The diagnosis is based on the association of the major skeletal, eye and cardiovascular signs described above. There is considerable variability of the signs and symptoms and the diagnosis is reliably made only when the typical features are present, or the mutation is confirmed. The Marfan syndrome is the classical condition in which the lens of the eye is displaced although this can sometimes be seen in other disorders.  Patients with this disorder must be monitored throughout life for heart and blood vessel disease and they should be cautioned about the eye symptoms of a retinal detachment such as flashes and floaters.  Because of the risk of damage to the aorta, weight lifting and other isometric exertion are contraindicated and contact sports with the potential of blunt trauma to the chest should be avoided.

Additional Information
Autosomal dominant