What Is Marfan Syndrome? Marfan syndrome is a genetic disorder of the body's connective tissue. Connective tissue gives structure and support to all parts of the body, including the skin, bones, blood vessels, and organs. What Causes Marfan Syndrome? Marfan syndrome happens because of an abnormality in one copy of a gene that causes problems with the body's production of the protein fibrillin. This protein is an important part of connective tissue. Weakened connective tissue can lead to problems in many parts of the body, especially the heart, eyes, and bones. Who Gets Marfan Syndrome? Most kids with Marfan syndrome have it because they got the abnormal gene from one of their parents, but sometimes it happens in a child without a family history. Either way, each child born to a person with Marfan syndrome, male or female, will have a 50% chance of inheriting the abnormal gene. What Are the Signs & Symptoms of Marfan Syndrome? People with Marfan syndrome are often tall and slender with long fingers and toes. They also may have a long face, deep-set eyes, a small jaw, and a high-arched roof of the mouth with crowded teeth. Their chest may cave in (pectus excavatum) or stick out (pectus carinatum), and they may have scoliosis (a curved spine) and flat feet. People with Marfan syndrome might also have other medical problems, including: enlargement of the aorta (the large blood vessel that carries blood from the heart to the body). If the wall of the aorta becomes very weak, it can tear and lead to serious bleeding in the body. heart valve problems eye problems a pneumothorax (collapsed lung) The symptoms of Marfan syndrome can vary greatly — even within the same family. Some people have very mild symptoms, while others have more significant problems. This makes it impossible to predict what problems may develop as the child grows. How Is Marfan Syndrome Diagnosed? Diagnosing Marfan syndrome usually involves detailed exams by different doctors, including: a cardiologist (heart specialist) an ophthalmologist (eye doctor) an orthopedist (bone specialist) a geneticist (specialist who helps to find DNA causes for diseases) To make the diagnosis, doctors: ask if anyone else in the family has Marfan syndrome do a physical exam to look for problems associated with Marfan syndrome, such as pectus excavatum or scoliosis do tests such as: an echocardiogram, which uses sound waves to make a picture of the heart to check the size of the aorta and how the heart valves are working a complete eye exam a blood test to look at the genes X-ray of the chest and spine How Is Marfan Syndrome Treated? There's no cure for Marfan syndrome because the gene change cannot be reversed, but most of the symptoms can be treated. It's important for your child to keep regular doctor's visits for testing of the heart, eyes, and bones. This way the care team can find any problems early and start treatment right away. Treatments may include: limits on exercise, such as no strenuous activities and no contact sports or sports where there's a risk of getting hit in the chest medicines to lower blood pressure to protect the aorta wearing glasses or contact lenses a back brace for scoliosis surgery on heart valves or the aorta, if needed Also, kids with Marfan syndrome should wear a medical alert device (a bracelet or necklace) that says they have the condition. When Should I Call the Health Care Provider? Heart-related emergencies are extremely rare in young people with Marfan syndrome. But call your health care provider if your child has: chest pain shortness of breath (especially during exercise) an irregular pulse sudden weakness or tingling in the legs and arms an unexplained fever sudden vision changes Looking Ahead Learning about Marfan syndrome and finding a knowledgeable medical team are important for your child's care. Genetics follow-up is recommended to help the family understand how Marfan syndrome is passed down to children, and also to help coordinate screening and specialty visits. Talk to your child honestly about the condition. Work with the care team to find safe activities he or she can enjoy. Kids and teens with Marfan syndrome need to play and laugh. They also should know that there are more things they can do than things they can't. Keep in touch with teachers and the nurse at school. This way, they can find ways for your child to be included even if he or she can't compete (for example, instead of playing in the soccer game, your child can be the scorekeeper). They also need to know the signs of possible complications so they can respond quickly. Support is available both locally and nationally to help you and your child understand Marfan syndrome better. Back to Articles Related Articles Chest Wall Disorder: Pectus Carinatum Pectus carinatum, sometimes called pigeon chest, is a deformity of the chest wall in which the chest juts out. Read More Chest Wall Disorder: Pectus Excavatum Pectus excavatum is a deformity of the chest wall that causes several ribs and the breastbone to grow abnormally, giving the chest a "caved-in" appearance. Read More Pectus Excavatum: Vacuum Bell Device Health care providers sometimes suggest that kids use a vacuum bell to help correct pectus excavatum, a condition that causes a caved-in chest. Read More Chest Wall Disorder: Poland Syndrome Poland syndrome is a condition where a child is born with missing or underdeveloped chest muscles. Read More X-Ray Exam: Chest A chest X-ray is a safe and painless test that uses a small amount of radiation to take a picture of a person's chest, including the heart, lungs, diaphragm, lymph nodes, upper spine, ribs, collarbone, and breastbone. Read More Prenatal Genetic Counseling Genetic counselors work with people who are either planning to have a baby or are pregnant to determine whether they carry the genes for certain inherited disorders. Find out more. Read More Scoliosis Scoliosis makes a person’s spine curve from side to side. Large curves can cause health problems like pain or breathing trouble. Health care providers treat scoliosis with back braces or surgery when needed. Read More Scoliosis Scoliosis makes a person’s spine curve from side to side. Large curves can cause health problems like pain or breathing trouble. Health care providers treat scoliosis with back braces or surgery when needed. Read More Scoliosis: Bracing Some teens with scoliosis wear a brace to help stop their curve from getting worse as they grow. Find out more about how scoliosis braces work and how long people wear them in this article for teens. Read More Scoliosis: Bracing Some kids with scoliosis wear a brace to help stop their curve from getting worse as they grow. Find out more about the different types of scoliosis braces. Read More Note: All information is for educational purposes only. For specific medical advice, diagnoses, and treatment, consult your doctor. © 1995-2021 KidsHealth®. All rights reserved. Images provided by The Nemours Foundation, iStock, Getty Images, Veer, Shutterstock, and Clipart.com.