Treacher Collins Syndrome

What is Treacher Collins syndrome?

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. Another name for Treacher Collins syndrome is mandibulofacial dysostosis.

Your child’s symptoms can range from mild and almost unnoticeable to very severe. Most children who have Treacher Collins syndrome have surgery to correct facial differences like cleft palate. Some may need treatment for hearing loss, as well.

With treatment and routine healthcare follow-ups, children with Treacher Collins syndrome can live long, healthy lives. Early intervention is key, though. Without treatment, children with Treacher Collins syndrome may develop complications that require lifelong medical care.

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

Treacher Collins syndrome symptoms

Children with Treacher Collins syndrome have distinctive facial characteristics, like:

• Eyelids with a downward slant.
• Small, flattened cheekbones.
• Small lower jaw.
• Small or differently shaped ears.
• Notched eyelids.

Treacher Collins syndrome causes

Researchers link Treacher Collins syndrome to genetic mutations (changes in DNA). About half of all children who have the syndrome have a biological family member with the condition. But it also happens sporadically, with no apparent cause.

What are the complications?

Children with Treacher Collins syndrome may have:

• Hearing loss due to narrow or missing ear canals.
• Breathing difficulties due to underdeveloped facial structures.
• Cleft palate, which can lead to feeding issues in babies and speech challenges in young children.

How doctors diagnose Treacher Collins syndrome

Healthcare providers might make a preliminary diagnosis based on regular newborn examinations. If your child’s symptoms point to Treacher Collins syndrome, your provider may refer you to a genetics specialist for further testing and diagnosis.

How is Treacher Collins syndrome treated?

Treacher Collins syndrome treatment depends on your child’s specific situation and medical needs. Not all children born with the condition require the same care.

From infancy through childhood, the goal of treatment is to improve health and function. Early in life, your child may need surgeries to help them breathe better. Sometimes, this may include a tracheostomy. In addition, many children will need some type of reconstructive surgery. Once they’ve finished growing (usually in their late teens or early adulthood), some people may choose to explore cosmetic surgery options, as well.

Reconstructive surgery

Healthcare providers use reconstructive surgery to treat structural abnormalities, ease symptoms and improve your child’s health. Depending on your child’s situation, they may need surgery on their:

• Jaws. Surgery to align your child’s jaws and correct their bite can help with eating and breathing difficulties.
• Mouth. Some children need cleft palate surgery. Others may need tooth extractions or orthodontics to reduce crowding.
• Nose. If excess tissue inside your child’s nasal passages interferes with breathing, surgery can help open their airways.
• Ears. Depending on a child’s specific symptoms, they might need ear tubes, hearing aids or surgery to rebuild their external ears. Hearing aids may also help.
• Eyes. Some children may need surgery to correct a notch in their lower eyelids (eyelid coloboma).
• Cheekbones. If small cheekbones cause feeding or breathing issues, surgery to reshape the area can help.

Can Treacher Collins syndrome be prevented?

Genetic changes cause Treacher Collins syndrome, so there’s no way to prevent it. If your family has a history of Treacher Collins syndrome, you might consider genetic counseling. This can help assess the risk of passing it down to your biological children.

Can Treacher Collins syndrome be cured?

The condition itself isn’t curable. But surgery can correct complications like facial differences, breathing issues and hearing loss.

What is the life expectancy?

People with Treacher Collins syndrome typically have a normal lifespan if they get the treatment they need as children. Treatment and regular follow-ups can ease symptoms and improve quality of life. Without treatment, children can develop complications that require lifelong medical care.

How can I care for my child?

Learning that your child has Treacher Collins syndrome can be scary. The uncertainty of the path ahead — like which treatments they might need — may feel overwhelming. But your healthcare provider is here to help. They’ll check in with you and your child regularly and give you a basic timeline for what treatment might look like.

The most important thing to remember is that Treacher Collins syndrome doesn’t interfere with your child’s ability to learn and be active. It has no effect on overall growth, brain development or intelligence. Encouraging your child to play, try new hobbies and explore the world around them can help them thrive.

What questions should I ask my doctor?

You probably have questions about your child’s health, as well as questions about their appearance. Here are some questions you might consider asking your child’s 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 it?
• Will this condition affect my child’s development?

Can Treacher Collins syndrome be detected before birth?

It’s possible. Healthcare providers track fetal 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, but this isn’t always the case.

Can people with Treacher Collins have children?

Yes, people with Treacher Collins syndrome can have children. If you have Treacher Collins, there’s a 50% chance that your child will have it, too.

Does Treacher Collins syndrome affect my child’s brain?

There’s no evidence that suggests Treacher Collins affects brain development or intellectual ability. Children with hearing loss may experience certain developmental delays, but treatments like hearing aids and speech therapy can help.

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.

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 as surgeries known as craniofacial reconstructions to help correct your child’s facial differences. Just as important, there are providers with experience and compassion who understand the journey you’re on — and they’ll walk with you every step of the way.