Treacher Collins Syndrome

What is Treacher Collins Syndrome (mandibulofacial dysostosis)?

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.

How common is Treacher Collins syndrome?

Treacher Collins syndrome affects approximately 1 in every 50,000 children worldwide.

What are the syndrome’s symptoms or characteristics?

Children who have the syndrome have distinctive facial characteristics, such as:

• Their airways might be partially blocked, making it hard to breathe.
• Their eyelids have a noticeable downward slant sometimes called “sad eyes.” It may look as if they’ve been crying.
• They have a cleft palate, a condition where infants are born with an opening in the roof of their mouths. Cleft palates can make it difficult for babies to nurse or drink from bottles.
• Their cheekbones appear flattened and are smaller than typical newborns.
• Their lower jaws are smaller than most newborns.
• Their ears might be smaller than most newborns or be shaped differently.
• They might have hearing loss detected during routine newborn hearing tests. An additional examination might reveal problems with the three small bones that are your child’s middle ear. These bones transmit sound.

What causes Treacher Collins syndrome?

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.

Can Treacher Collins syndrome be detected before birth?

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.

What happens if my ultrasound shows my child could have 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.

Does this syndrome affect my child’s brain?

Children whose hearing is affected by the syndrome might have developmental delays, but there’s no indication the syndrome affects children’s intellectual ability.

How is it diagnosed?

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.

What is the treatment for Treacher Collins syndrome?

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:

• Nose: Extra tissue or bone is blocking the back of your child’s nose, making it hard for them to breathe through their nose. Treatment includes surgery to remove the extra bone or tissue
• Lower jaw: Your child’s lower jaw is set at a steep angle. This is called micrognathia. About half of children with this condition have sleep apnea. It can also affect your child’s ability to eat. If your child’s breathing issues are mild, changing sleep positions can help, such as having your child sleep on their side. Your child’s healthcare provider might recommend your child use a temporary tube, called a nose trumpet or a continuous positive airway pressure device (CPAP). More severe breathing problems might require surgery such as endotracheal tubes or tracheotomy. Your child’s healthcare provider may also recommend jaw-lengthening surgery.
• Cleft palate: Surgery to close the gap in the roof of your child’s mouth.
• Facial differences: These surgeries are called craniofacial reconstructions. They’re usually done during your child’s teenage years and as needed to help your child’s breathing and other physical symptoms. Not every child wants or needs facial reconstruction.
• Eyes: The syndrome can affect the tissue and bones around your child’s eyes so your child’s eyes slant down. It can also create a notch in your child’s lower eyelid. Treatment may include surgery to fix the notch in your child’s lower eyelid.
• Cheekbones: The syndrome can cause your child’s cheekbones to be smaller than usual, or to be missing. Treatment for this may include bone grafts or synthetic implants to rebuild cheekbones.
• Jaws: Your child’s lower jaw and/or upper jaw might be set back at a steep angle, which affects their ability to eat and breathe. Treatment for this may include corrective surgery to fix your child’s upper and lower jaws to correct their bite and help with breathing and chewing.
• External ears: Your child’s external ear might be missing, be smaller than normal or be oddly shaped. Treatment for this may include surgeries to rebuild or build your child’s external ears using tissue and bone grafts or artificial materials.
• Hearing: The syndrome can affect hearing in two ways. Your child might not develop ear canals, having an eardrum or the small bones that make up their middle ear. Or your child might have hearing structures that are oddly shaped, which means sound can’t get through them. Treatment for hearing-related issues may include surgery to build the missing hearing structures, bone-anchored implants to support hearing, speech therapy and educational support.

How can I reduce the risk my child will have Treacher Collins syndrome?

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.

How long does a person live with Treacher Collins syndrome?

Children whose symptoms are treated typically have normal lifespans.

Can Treacher Collins syndrome be cured?

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.

My child has Treacher Collins syndrome. How do I take care of them?

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:

• Early infancy. Treatments to help breathing, including surgery.
• Year one. Cleft palate surgery, ear tubes as needed. Surgery to repair lower eyelids. Some babies might need headband-style hearing aids to support hearing.
• Ages 2 to 3. Speech evaluation if your child had cleft palate surgery.
• Early childhood, ages 4 to 6 and up. Bone-anchored hearing aids. Surgery to rebuild external ears.
• Teenage years. Once your child has finished growing, you and they might want to consider craniofacial construction.

What questions should I ask my doctor?

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:

• How does this syndrome affect my child?
• What serious medical conditions does it cause?
• Will my child need surgery?
• If so, what kind of surgery, and when should they have this surgery?
• Will my child have difficulty learning?
• Will my child have mental health issues?

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.