Marfan Syndrome

What Is Marfan Syndrome?

Marfan syndrome is an inherited disorder that weakens connective tissue, the fibrous framework that stabilizes organs, bones, eyes, and blood vessels. Roughly 1 in 5,000 babies is born with the condition worldwide.

Why Choose UT Southwestern for Marfan Syndrome Care?

UT Southwestern Medical Center, in partnership with Children’s Health, operates the only clinics in the Dallas–Fort Worth area devoted solely to hereditary disorders such as Marfan syndrome, aortic diseases, osteogenesis imperfecta, and other skeletal growth conditions. It is also the only medical center in the region designated by the Marfan Foundation as a site of expert care for patients with connective tissue disorders.

A multidisciplinary team of cardiologists, medical geneticists, orthopedic surgeons, ophthalmologists, and genetic counselors create personalized care plans for every patient. Our physicians and researchers conduct leading‑edge studies and clinical trials, ensuring patients receive the most advanced tests and treatments in one convenient location.

What Are the Symptoms of Marfan Syndrome?

Marfan syndrome affects each person differently — even among members within the same family — but the symptoms can include:

Enlargement or weakening of the aortic root (the section of the aorta attached to the heart)
Heart valve leakage
Abnormal chest wall shape (pectus)
Dislocation of the eye’s clear lens, leading to blurry or double vision
Collapsed lung (pneumothorax)
Tall stature with long arms, legs, fingers, and toes
Increased joint flexibility (“double‑jointed” movement)
Curved spine (scoliosis)
Flat feet
Stretch marks

Because an enlarged aorta can tear or rupture, regular cardiovascular checkups and blood pressure control are essential.

What Causes Marfan Syndrome?

The disorder is caused by a mutation in the FBN1 gene, which tells the body how to make fibrillin‑1, a protein that keeps connective tissue, such as collagen, strong and elastic. There are two types:

Inherited cases: Most patients receive the mutated gene from an affected parent. A parent with Marfan syndrome has a 50 percent chance of passing on the altered gene to each child.
Spontaneous cases: About 25 percent result from a new mutation in a child whose parents do not have the condition.

If you suspect Marfan syndrome in yourself or a family member, contact our team. We’ll guide you through testing, answer your questions, and support you at every step through your care journey.