By: Leah W. Burke, MD, FAAP
About 1 out of every 5,000 people are born with Marfan syndrome. The condition makes connective tissues that support parts of the body stretch more than usual.
Because of this, kids with Marfan syndrome may grow differently. For example, their bones may grow longer than usual. Marfan syndrome can also affect tissues in the heart and blood vessels, eyes, skin, lungs and other body systems. Working with your child's doctors to monitor their health can help prevent and treat any complications. Read on to learn more.
Are some children at higher risk of getting Marfan syndrome?
Marfan syndrome is inherited in three-quarters of cases, so family typically plays a role. However, some cases are new in a family. It affects boys, girls and people of all races equally.
What are some possible signs & symptoms of Marfan syndrome in children?
Some signs of Marfan syndrome may be present at birth but typically are more noticeable as a child gets older. Children with Marfan syndrome tend to be:
taller and thinner than average, with long arms, fingers and legs. Their arm span may be longer than their height.
more likely to have a curve in the spine (scoliosis), chest bones that stick out or cave in, flat feet or crowded teeth.
more prone to
hernias and stretch marks on their skin. In addition, cuts and scrapes may heal with unusual scars.
They may have trouble sleeping and may be more tired than average, especially as they get older.
Not all children with Marfan will share these common characteristics, though.
What kinds of medical treatments might children with Marfan syndrome need?
Every child with Marfan syndrome is different, so treatments they may need will vary. It will depend on the parts of the body that are affected. Treatments may include medications, surgery or other options to manage the condition and any complications. Children with Marfan syndrome may be on medication that lowers blood pressure to reduce the strain on their blood vessels, for example.
Other considerations to keep children with Marfan syndrome safe & healthy
Some children with Marfan syndrome may need to avoid vigorous
physical activity such as competitive sports, but normal play is encouraged. They can have loose joints and might get hand pain after prolonged grasping of writing tools such as crayons. If the child has vision problems, they might need special glasses or other accommodations. Ask your child's doctor if they need any restrictions on activities such as blowing up balloons.
What symptoms should be considered a medical emergency for a child with Marfan syndrome?
Call emergency medical services (911) immediately for any of the following symptoms:
Aortic aneurysm or rupture can be a life-threatening emergency. It might start with
chest pain, loss of consciousness, numbness or color change (pale or blue). Sudden chest pain could also mean a pneumothorax (an air leak around the lung).
Sudden changes of vision or unexplained flashes of light, which might signal an optical lens dislocation.
Who might be on the treatment team for a child with Marfan syndrome?
Pediatrician/primary care provider in the medical home
Ophthalmologists (eye doctors)
Cardiologists (heart doctors)
Geneticists (gene doctors)
Orthopedic surgeons (muscle and bone surgeons)
What is the long-term outlook for children with Marfan syndrome?
Increased medical monitoring, along with research and advances in treatments and surgeries, allow people with Marfan syndrome to live long, productive lives.
About Dr. Burke
Leah W. Burke, MD, FAAP, is a pediatric geneticist and Chair of the AAP Council on Genetics Executive Committee. She is a Professor Emerita in the Departments of Pediatrics and Medicine for the University of Vermont Larner College of Medicine.