Marfan Syndrome

Definition: An autosomal dominant disorder of the connective tissue. MFS features can occur in many different parts of the body.

Etiology: Defects in a gene called fibrillin-1. Majority of the cases are genetic, however, up to 30% of cases have no family history.
Frequency: About 1 in 5,000.

Clinical Features: Long, thin arms and legs, scoliosis and arachnodactyly. Arm span is much greater than their height. A chest that sinks in or sticks out -- funnel chest or pigeon breast. Flat feet, hypotonia, hyperflexible joints, learning disabilities, severe myopia or dislocation of the lens of the eye, aortic dilation or aortic aneurysm, heart valve problems, or collapsed lung.

Oral Manifestations: Long, narrow face, high palatal vault, prominent lower jaw, crowding and malocclusion.

Treatment: Vision problems should be treated when possible. Treatment of scoliosis in adolescence, medication to slow the heart rate may help prevent stress on the aorta, avoiding participating in competitive and contact sports to avoid injuring the heart. Some people may need surgical replacement of the aortic root and valve.

Dental Considerations: Antibiotic prophylaxis and orthodontic care.
Prognosis: Heart-related complications may shorten the lifespan of people with this disease. However, many patients survive well into their 60s. Good care and surgery may extend the lifespan further.