Marfan Syndrome

Marfan syndrome is a genetic disorder of the body’s connective tissue, which acts as a supporting structure primarily for the musculoskeletal system. It is also the most common inherited connective tissue disorder, occurring in one in 5,000 live births.

Characteristics

Common symptoms include those related to abnormalities in connective tissues, such as abnormal enlargement of the aortic root of the heart, dislocated lenses of the eyes, and a tall, lanky body with increased joint mobility, scoliosis, long flat feet, and long fingers. Symptoms may vary among individuals diagnosed with this condition, even within a family.

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

Causes of 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 connective tissue. This mutation results in an increase in a protein known as Transforming growth factor beta, or TGFB, causing problems in tissues throughout the body.

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

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