Marfan Syndrome

UT Southwestern Medical Center is a leader in researching, testing, and caring for people with genetic disorders such as Marfan syndrome. Working with Children’s Health, our Genetic and Metabolism clinics are the only ones in the Dallas-Fort Worth area that specialize in the diagnosis and management of a variety of genetic conditions, including Marfan syndrome, osteogenesis imperfecta, and other disorders of skeletal development.

What Is Marfan Syndrome?

Marfan syndrome is a genetic disorder of the body’s connective tissue, which acts as a supporting structure primarily for bones, cartilage, blood, and blood vessels.

It is also the most common inherited connective tissue disorder, occurring in one in 5,000 live births.

What Are Characteristics of Marfan Syndrome?

Common symptoms include:

• Enlargement of the root of the aorta where it connects to the heart
• Dislocated lenses of the eyes
• A tall, lanky body with increased joint mobility
• Scoliosis
• Long, flat feet
• Long fingers

Symptoms may vary, even within a family.

People with Marfan syndrome should be monitored for heart and aortic problems, because the syndrome can play a role in aortic aneurysms, ruptures, or dissections.

What Causes Marfan Syndrome?

Marfan syndrome is caused by a defect in the gene that tells the body how to make Fibrillin-1 – a protein that’s an important part of collagen, a protein that helps maintain tissue strength.

Most individuals with Marfan syndrome inherit it from a biological parent who has the disorder. Some people have a spontaneous mutation and are the first in their family to develop the disorder. People with Marfan syndrome have a 50-50 chance of passing on the mutation each time they have a child.