Rubinstein-Taybi Syndrome
WHAT IS RTS?
RTS is a rare health problem that children are born with. It affects how they grow and look. Children with RTS grow slower than other children, have faces that look a bit different, have wide thumbs and big toes and learn things more slowly.
Doctors first found out about RTS in 1957.
HOW DO DOCTORS KNOW IF A CHILD HAS RTS?
Doctors do a few things to check for RTS. They look at the child's body, take pictures of their hands (X-rays), look at pictures of their brain with MRI and CT scans, and check how their brain and heart work with special tests. They might also do a gene test. However, not all children with RTS have the same gene changes. Some babies are born with clear signs of RTS. For others, doctors might not be able to tell if RTS is present until children are older.
WHAT EYE PROBLEMS CAN CHILDREN WITH RTS HAVE?
Children with RTS might have:
- Eyes with eyelids that point down
- Eyes that don't line up
- Droopy eyelids
- Extra skin at the inner corner of the eyes
- Blocked tear ducts
- Needs for glasses
Some less common eye problems such as high eye pressure, cataracts (a cloudy spot in the center of the eye) or problems with the inside parts of the eye (like the iris) can happen as well.
DO PARENTS PASS RTS TO THEIR KIDS?
Usually, RTS just happens on its own. It's very rare - only about 1 in 100,000 to 300,000 babies are born with it. It affects boys and girls equally.
WHAT OTHER PROBLEMS DO KIDS WITH RTS HAVE?
Children with RTS might have:
- Wide thumbs and toes
- Problems learning things
- A nose shaped like a bird's beak
- Short height
- Ears that look different
- A mouth shaped differently
- A small head or jaw
- A red birthmark on their forehead
- Very flexible joints
- More hair on their body
- Problems with eating or breathing
- Heart or kidney issues
- Problems with their spine
- Stomach aches
HOW DO DOCTORS HELP CHILDREN WITH RTS?
There is no cure for RTS, but doctors can help with specific problems:
- Speech therapy to help with talking
- Physical therapy to help with moving arounD
- Regular eye check-ups with a pediatric eye doctor (ophthalmologist) to help with eye problems
WHERE CAN I LEARN MORE ABOUT RTS?
You can visit websites like specialfriends.org or join RTS groups on Facebook to learn more and talk to other families.
Updated: 10/2024
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