Treacher Collins syndrome is a rare inherited group of conditions that affect the size, shape and position of your child’s ears, eyes, cheekbones and jaws. The syndrome can cause one or more conditions that affect your child’s ability to nurse or bottle-feed, breathe easily or hear. Children who have this syndrome usually need life-long medical support.
Treacher Collins syndrome is an extremely rare inherited group of conditions that affect the size, shape and position of your child’s ears, eyes, cheekbones and jaws. The syndrome can cause one or more conditions that affect your child’s ability to nurse or bottle-feed, breathe easily or hear.
Your child’s symptoms can range from mild and almost unnoticeable to very severe. Most children who have Treacher Collins symptoms have surgery to correct facial differences, such as cleft palate, as well as treatment for hearing loss. Children born with Treacher Collins syndrome need life-long healthcare follow-up.
Treacher Collins syndrome affects approximately 1 in every 50,000 children worldwide.
Children who have the syndrome have distinctive facial characteristics, such as:
Researchers link Treacher Collins syndrome to prenatal gene mutations. About half of all children who have the syndrome have someone in the family who has the syndrome. But it also happens sporadically, meaning no family members have the syndrome.
Healthcare providers track your child’s prenatal development with regular ultrasounds. Your child’s facial characteristics are usually visible via ultrasound by the beginning of your second trimester. Ultrasounds might reveal more severe forms of Treacher Collins syndrome.
This is a rare syndrome, so healthcare providers look at each situation as unique. If your ultrasound shows signs your child might have Treacher Collins syndrome, your healthcare provider will be there for you as you take in information, ask questions and think about what’s next.
Children whose hearing is affected by the syndrome might have developmental delays, but there’s no indication the syndrome affects children’s intellectual ability.
Healthcare providers might make a preliminary diagnosis based on regular newborn examinations. If your child’s symptoms indicate Treacher Collins syndrome, your healthcare provider might refer you to a genetics specialist to confirm the preliminary diagnosis.
Treatment for Treacher Collins is tailored to your child’s specific situation and medical needs. Not all children born with the syndrome require the same treatment. Here are treatments for the most common medical condition:
Treacher Collins syndrome is caused by inherited genetic mutations. Unfortunately, more than half of children diagnosed with the syndrome don’t have a family history of the syndrome, though. If your family has a history of the syndrome, you might consider genetic counseling to assess the risk of passing down the syndrome.
Children whose symptoms are treated typically have normal lifespans.
Healthcare providers have surgical and other treatments that can correct the facial differences, breathing problems and hearing loss that Treacher Collins causes. The syndrome itself can’t be cured.
Treacher Collins syndrome affects every child in different ways. More than that, families affected by the syndrome are likely to have different ways of managing the syndrome’s impact. In other words, there are lots of ways to treat these conditions, but not every treatment will be right for every child. One common treatment sequence might be:
Treacher Collins syndrome is a rare genetic condition that can affect your child’s ability to nurse or bottle-feed, breathe, hear and, in some cases, their appearance. You’ll probably have questions about your child’s health, as well as questions about their appearance. Here are some questions you might consider asking your healthcare provider:
A note from Cleveland Clinic
In our eyes, our children are perfect — and that’s how we want the world to see them. But Treacher Collins syndrome can make it difficult for the world to see our children as we see them. The syndrome is a rare genetic condition that can make it hard for your child to breathe and hear. It also causes facial differences. Unfortunately, there’s no cure for Treacher Collins syndrome. But healthcare providers have many ways to help. There are surgeries to ease breathing difficulties and hearing loss, as well surgeries known as craniofacial reconstructions to help correct your child’s facial differences. Just as important, there are healthcare providers with experience and compassion who understand that you and your child are on a long journey from diagnosis to recovery.
Last reviewed by a Cleveland Clinic medical professional on 11/11/2021.
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