Treacher Collins Syndrome

Treacher Collins syndrome is a rare, genetic condition affecting the way the face develops — especially the cheekbones, jaws, ears and eyelids. These differences often cause problems with breathing, swallowing, chewing, hearing and speech.

How severe the syndrome is varies widely from child to child. Treacher Collins syndrome is present when a baby is born (congenital).

The condition is also called mandibulofacial dysostosis and Franceschetti-Zwalen-Klein syndrome.

Treacher Collins syndrome happens in about 1 in 50,000 newborns worldwide.

Children with Treacher Collins syndrome need coordinated care by providers from many areas of healthcare. At Seattle Children’s Craniofacial Center, we take this multidisciplinary approach to treating your child.

What causes Treacher Collins syndrome?

Treacher Collins syndrome happens because of a change (mutation) in a gene that affects how a baby’s face develops before birth.

About 60% of children with Treacher Collins syndrome have it because of a new genetic change that was not inherited from the mother or father. Other times, a parent passes an abnormal gene to a child.

Most families have never heard of Treacher Collins syndrome before their child is born with it. In the past 5 years, we have cared for more than 700 children with complex disorders affecting the jaw and ear. That includes 21 children with Treacher Collins syndrome. Our experience with this rare condition helps us continually improve our care.

Many of our patients are babies who are newly diagnosed. We also work with children who received their initial care at another hospital.

Please call the Craniofacial Center at 206-987-2208 for more information, a second opinion or to make an appointment.

• Specialists to cover all your child’s needs

  Our Craniofacial Center has experts in every field your child might need. These 50 specialists work as a team to diagnose and care for our patients.

  Our team meets weekly to discuss children with complex needs and decide on the best care plan for each child. We work together, and with you and your family’s doctor, to manage your child’s personalized care.

  A craniofacial pediatrician, nurse and social worker will work closely with your family. They help coordinate care and make sure all your questions are answered.

  The pediatrician guides your child’s treatment and decides if other specialists are needed. Your child’s team may include a craniofacial plastic surgeon, oral-maxillofacial surgeon, ear, nose and throat specialist (otolaryngologist), orthodontist, audiologist, speech and language pathologist (SLP) and dietitian.

  We care for care for your child’s physical, emotional and comfort needs. Read more about the supportive care we offer.

• Our approach leads to better results with fewer surgeries

  Our team is experienced in the range of procedures your child may need – whether to lengthen their jaw bones, rebuild their cheekbones, reshape their ears, mend a cleft palate or repair their lower eyelids.

  • Our approach helps children with Treacher Collins syndrome get the maximum benefit from surgeries early in childhood. As a result, later in life, some surgeries are either not needed or are less extensive. We use counterclockwise craniofacial distraction osteogenesis (C3DO) to improve breathing and correct jaw rotation better than the standard treatment for Treacher Collins syndrome. C3DO gets better results for children by combining 2 procedures that are usually done separately.
  • Often we combine surgery to cut a bone with distraction osteogenesis. This combination lets us make bigger corrections in bone position than traditional surgery alone.
  • 3-D imaging and powerful software help us predict future growth. Our surgery and orthodontic corrections take into account continued growth of your child’s bones. When your child is finished growing, their bones are in the desired position.
• Care from birth to adulthood

  We provide the treatment that is right for your child at the right time.

  From the start, we help your baby with breathing and feeding problems. We measure their growth and help you with feeding techniques. We check your child’s chewing, eyesight, hearing and speech development. We recommend treatments for any issues they have.

  As your child grows, we do surgeries as needed to correct problems with their jaws, cheekbones, mouth, eyes and ears.

• We support your whole family

  A diagnosis of Treacher Collins syndrome can be scary. We take time to explain your child’s condition. We help you fully understand your treatment options and make the choices that are right for your family.

  As your child gets older, we include them in decisions about their medical care.

  Our child life specialists and social workers help your child and your family through the challenges of this condition. We connect you with community resources and support groups.

  Seattle Children’s provides craniofacial care for children in an area one-fourth the size of the continental United States. We also care for children from across the globe. This experience has helped us develop systems to provide outstanding, personalized care at great distance.

• Research to improve care

  We receive more research funding from the National Institutes of Health (NIH) than any other craniofacial center in the United States.

  Our researchers are:

  • Investigating long-term outcomes for children with malformations of the ears and jaws.
  • Studying the changes in genes that cause undersized outer ears (microtia). This often affects children with Treacher Collins.
  • Developing a system to describe and rate the physical traits of undersized ears and how severe each case is.

  Learn about research into undersized jaws and ears at Seattle Children's.

There is no single care plan for Treacher Collins syndrome. The treatments and timing we recommend depend on how much your child is affected by the syndrome.

Our goal is to minimize the number of steps by improving the outcome of each step.

• Feeding and cleft palate repair

  Babies with Treacher Collins often are born with a very small jaw. About 25% of children with the syndrome have an opening in the roof of their mouth (cleft palate).

  These differences in the face often cause problems with breast and bottle-feeding. We help you with feeding techniques during your baby’s first months.

  We will check regularly to make sure that your baby is gaining weight. A dietitian may see you in the clinic to help you with your child's diet.

  If your child has cleft palate, our surgeon will talk with you about repairing the roof of their mouth. Usually this happens at about 1 year of age. See Treating Cleft Palate.

• Easing breathing

  Babies with very undersized facial bones may have breathing problems. If this is the case for your baby, your doctors will discuss the options to manage and correct the cause.

  Options may include:

  • Positioning your baby so they breathe more easily
  • Surgery to make the jaw longer and move it forward
  • Surgery on the inside of the nose to fix a blocked airway
  • Placing a breathing tube in the windpipe (tracheostomy) for severe breathing problems

  Sometimes children have trouble breathing while they sleep (obstructive sleep apnea). Over time, this may lead to problems with how the heart and lungs work. It also can contribute to problems with learning and behavior.

  We will ask questions during clinic visits to assess whether this may be a problem. To better understand their breathing patterns, we may monitor your child overnight in our sleep lab (PDF) (Arabic) (Simplified Chinese) (Somali) (Spanish) (Vietnamese).

  The treatment options and timing will depend on your child.

• Enlarging the jaw

  If your child has a very small jawbone, your doctor may recommend surgery to make it larger. This helps with breathing and chewing.

  The options include subcranial rotation distraction and a bone graft. The team will talk with you about the best choice for your child.

  Counterclockwise craniofacial distraction osteogenesis (C3DO)

  For children who have had a breathing tube inserted into their windpipe (tracheostomy), we recommend counterclockwise craniofacial distraction osteogenesis (C3DO). Usually, it is done when your child is 6 to 10 years old.

  Seattle Children’s Craniofacial Center is the first to use C3DO to improve the airway and jaw position in children with Treacher Collins syndrome. The goal is to allow a child to breathe without a tube in their windpipe. Surgeons around the world are adopting our approach.

  C3DO gets better results than the traditional treatment because it combines 2 separate procedures: mandible distraction and Le Fort II nasomaxillary advancement.

  Performing both procedures at the same time makes a bigger correction in the backwards jaw rotation caused by this syndrome. The combined surgery helps open your child’s airway and improve their breathing.

  Read more about C3DO.

  Bone graft

  A bone graft is used instead of distraction if the joint that connects your child’s jawbone to their skull (temporomandibular joint) is not stable.

  • Surgeons use a piece of bone from your child’s rib to lengthen the jawbone or make a new jaw joint.
  • Surgeons take the bone graft from a single rib through a small incision on your child’s chest.
  • After surgery, the new bone in the jaw will become hard and strong. The bone that was taken from the rib will often grow back.
  • Doctors first consider this option when your child is 4 to 7 years old.

  See how this revolutionary surgery helped Hannah breathe without a tracheostomy for the first time.

• Rebuilding cheekbones

  Undersized or missing cheekbones can usually be rebuilt with bone grafts.

  • The bone grafts are taken from your child’s skull. The skull is a good source of the strong bone needed to replace the cheeks.
  • Usually surgeons use the same scalp incision to remove bone and to place the grafts.
  • If your child has subcranial rotation distraction, surgery on their cheekbones is done when the distraction devices are removed.
  • If your child does not have subcranial rotation distraction, surgeons usually rebuild the cheekbones when your child is 8 to 10 years old. Less often, cheekbone surgery happens during the teen years, after jaw alignment surgery.

  In some children with Treacher Collins syndrome, the skin over their cheekbones is very thin and sometimes is a slightly darker color. We may recommend padding the skin in this area before surgery on the cheekbones.

  • The surgeon takes fat from your child’s belly and injects it under the skin that covers their cheekbones.
  • This is a common procedure used for cosmetic reasons in adults. It is very successful in treating the cheekbone skin in Treacher Collins syndrome.
  • The treatment usually takes 2 or 3 steps. Each step happens 6 to 12 months apart.
  • Each step takes about 1 hour. Your child will likely be able to go home after the surgery, without spending the night in the hospital.
• Managing hearing problems

  At least half of children with Treacher Collins syndrome have hearing loss. It may happen because:

  • Sound is blocked from reaching the inner ear (conductive hearing loss). This may be caused by very narrow or missing ear canals.
  • Problems with the 3 bones in the middle ear that transmit sound.

  Most often your baby’s hearing is screened in the hospital soon after birth or within a few days. If problems are found, we do further testing. A specialist trained to test hearing in infants and children (audiologist) will perform the tests.

  As your child grows, they will have a variety of hearing tests based on their ear health and how well they hear. Children with Treacher Collins tend to get frequent ear infections because of their abnormal middle ear.

  Our ear, nose and throat specialist (otolaryngologist) and audiologist will talk with you and your child about hearing management, such as:

  • Whether hearing aids are needed
  • How to prevent further hearing loss
  • The best place to sit in the classroom when your child reaches school age

  The small size of the outer ear may make it hard for your child to wear hearing aids. One option might be bone-anchored hearing aids that are attached with a tiny screw.

  Your child may need a CT (computed tomography) scan to examine their middle and inner ear. We do this at about 4 to 5 years of age, when the growth of the ear is nearly complete. CT scans help doctors decide if surgery to restore hearing would be successful.

• Repairing eyelids

  Sometimes differences in the lower eyelid leave a child’s eye unprotected or at risk for infection or scarring of the eye (corneal exposure).

  If so, we may recommend surgery to improve how the lid works and looks.

  The surgery we recommend depends on your child. Options include:

  • Removing a small wedge of the lower eyelid to tighten it (wedge excision)
  • Using a small flap of skin from the upper eyelid to better support the lower eyelid (lid switch flap)
  • Using a small piece of tendon to raise the position of the lower eyelid (fascial sling)
• Addressing ear differences

  Many children with Treacher Collins syndrome have ears that are unusually shaped or missing. This is called microtia. Our Otolaryngology programis 1of the few in the country to offer comprehensive treatmentfor microtia. Our team is skilled at rebuilding ears using manmade (alloplastic) materials or cartilage from the ribs (autologous).Our options also include a removable prosthetic ear. Read more about microtia treatment.

• Improving speech

  In some children with Treacher Collins the muscles in the back of the mouth do not work right. About 25% are born with a cleft palate.

  Both conditions can limit your child’s ability to make speech sounds. Velopharyngeal dysfunction is one type of speech problem.

  If you or your doctors have concerns about your child’s speech, your child will see a speech and language pathologist (SLP).

• Aligning jaws and teeth

  Your child will need surgery to align their jaws if they do not fit together properly when their bones have finished growing. This is called orthognathic surgery.

  Usually, the bones finish growing at 16 years for a female and 18 years for a male.

  Your child may need to have Le Fort I maxillary advancement surgery, mandibular osteotomy or both procedures.

  After surgery on the jaw, your child will wear braces to hold the teeth until they settle into their new position. This takes at least 6 months.

  Read more about craniofacial orthodontics.