Treacher Collins syndrome (TCS) is a rare condition. Babies who have it are born with deformed ears, eyelids, cheek bones, and jawbones. There is no cure, but surgery can make a big difference. The condition is caused by an abnormal gene that affects how the face forms. Hearing loss is common.
TCS affects about one out of every 50,000 babies born. TCS is always genetic but usually isn’t inherited.
For about 60% of the children who get it, neither parent carries the gene. For them, the chances of passing it along to another child are quite low.
In the other 40% of cases, the child gets it from a parent. The chances of passing it along with each pregnancy are 50%.
Signs and Problems
The physical signs of TCS vary from child to child. Some have very mild cases that are hard to see. For others, it’s quite severe. Signs can include:
- Flat, sunken, or sad look to the face
- Too-small cheekbones
- Eyes that slant down
- Missing eyelid tissue
- Notch in the lower eyelid
- Cleft palate (an opening in the roof of the mouth)
- Abnormal airway
- Small upper and lower jaw and chin
- Misshapen or missing ears
- Skin growth in front of the ear
Does My Child Have Treacher Collins Syndrome?
The doctor will examine your baby after birth. Sometimes that’s all it takes to diagnose TCS. The doctor might want to take X-rays or other images. These can show things like an extra-small jaw or ear issues that are hard to see. Some symptoms of Treacher Collins syndrome are like those of other conditions. That’s why the doctor will want to be sure.
Genetic tests can show gene changes that may have caused your baby’s TCS. The first step is to talk with a genetic counselor who will explain the test and why you may, or may not, want to have it. Your doctor can help you with this.
How to Treat Treacher Collins Syndrome
TCS can’t be cured. And no one treatment is best for everyone who has it. That’s because each case is different. It depends on the problems your child has, or may have in the future. If your baby does have TCS, you’ll want to get their hearing checked.
Deformed bones in the face can also make it hard for your child to breathe and eat. If your newborn has these problems, your doctor will have advice. Your baby might need a tube to help them breathe.
Many surgeries can improve or fix the problems. Talk with your doctor about what’s best for your child and what’s the best time to take care of it.
Possible operations your child might need:
- Nose surgery to open a blocked airway
- Mouth surgery for a cleft palate
- Repair of the eye socket
- Repair of the eyelid
- Repair of the nose
- Repair of the cheekbones
- Repair of the jawbone
- Surgery to reconstruct the ears
These require a surgeon who is a specialist in operations on the face and head.
Other kinds of treatment don’t involve surgery -- hearings aids, as well as speech and language programs. You may want to join a support group for families with children who have TCS or other birth defects. Your doctor or hospital can help you find one.
If your baby has this condition, you’ll want to do all you can to make their life easier. Deformities of the face can be a real challenge, but there is a lot of information and support available to help you take care of your child.