Visit our foundation to give a gift.
View Locations Near Me
Main Campus – Hartford
Connecticut Children’s – Waterbury
Urgent Care – Farmington
Specialty Care Center – Danbury
Connecticut Children’s Surgery Center at Farmington
Specialty Care Center – Fairfield
Search All Locations
Find a doctor
Find A Doctor
Request an Appointment
Amenities and Services
Who’s Who on Care Team
Getting Ready for Surgery
What to Expect—Picture Stories
Understanding the Different Fees
Estimate of Financial Liability
Pay a Bill
United Technologies Family Resource Center
Family Advisory Council
Legal Advocacy: Benefits, Education, Housing
Electronic Health Records
Share Your Story
Pay a Bill
Login to MyChart
Clinical Support Services Referrals
About the Network
Join the Network
Graduate Medical Education
Continuing Medical Education
MOC/Practice Quality Improvement
Educating Practices in the Community (EPIC)
Learning & Performance
Meet our Physician Relations Team
Request Medical Records
Join our Referring Provider Advisory Board
View our Physician Callback Standards
Read & Subscribe to Medical News
Register for Email Updates
Update Your Practice Information
Refer a Patient
Find and Print Health Info
Health Information For Parents
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.
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.
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.
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:
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.
Diagnosing Marfan syndrome usually involves detailed exams by different doctors, including:
To make the diagnosis, doctors:
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:
Also, kids with Marfan syndrome should wear a medical alert device (a bracelet or necklace) that says they have the condition.
Heart-related emergencies are extremely rare in young people with Marfan syndrome. But call your health care provider if your child has:
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.
Pectus carinatum, sometimes called pigeon chest, is a deformity of the chest wall in which the chest juts out.
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.
Health care providers sometimes suggest that kids use a vacuum bell to help correct pectus excavatum, a condition that causes a caved-in chest.
Poland syndrome is a condition where a child is born with missing or underdeveloped chest muscles.
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.
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.
Scoliosis makes a personâs 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.
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.
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.
Note: All information is for educational purposes only. For specific medical advice, diagnoses, and treatment, consult your doctor.
© 1995-2020 KidsHealth®. All rights reserved.
Images provided by The Nemours Foundation, iStock, Getty Images, Veer, Shutterstock, and Clipart.com.