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Treacher Collins Syndrome at North Austin Campus

Conditions

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Treacher Collins syndrome (TCS) is a genetic condition affecting the way the cheekbones, jaws, ears and eyelids develop. The condition is very rare and occurs in about 1 in 50,000 newborns worldwide. How severe the syndrome is and how it affects breathing, swallowing, chewing, hearing and speech is different from child to child. In some mild cases of TCS, no or very little surgery is required. In more severe cases, a child will need a series of carefully planned staged surgeries through childhood for the best result. 

The Craniofacial Program in North Austin has an international reputation in working with children and young adults with all presentations of TCS. One of our surgeons and our craniofacial orthodontist developed a procedure that is very successful in treating patients with TCS and a tracheostomy (breathing tube in the neck) known as counter-clockwise craniofacial distraction osteogenesis or C3DO. Patients come to Austin from around the country to have this surgery when previous surgeries have failed to remove their tracheostomy. 

Treacher Collins syndrome usually affects the cheekbones, jaws, eyes and ears of your child. In some children these effects can be very mild, whereas in others they can be severe and cause a number of challenges. Your child with TCS may look different and may have problems with breathing, chewing, seeing, hearing or speaking.

The most common findings in Treacher Collins syndrome are:

  • A small lower jaw and chin (micrognathia)
  • An upper jaw that may be rotated upwards at the back of the palate
  • Missing or undersized cheekbones
  • Small (microtia) or missing (anotia) ears
  • A notch of missing tissue in the lower eyelids (coloboma)

In more severe cases, a child with Treacher Collins syndrome may have:

  • Hearing loss caused by problems with the ear canal or the inner bones in the middle ear that transmit sound. At least half of children with Treacher Collins syndrome have some kind of hearing difficulty.
  • A cleft palate
  • A compressed upper airway that causes serious breathing problems and may require a breathing tube (tracheostomy) to be placed soon after birth. 
  • Swallowing difficulties that may require placement of a feeding tube into the stomach through the skin (gastrostomy or G-tube)

The Craniofacial Program at Texas Children’s North Austin has nationally recognized specialists to meet all your child’s needs. At your first visit your craniofacial provider will determine which of these other specialists your child will need to meet:

  • Craniofacial, Plastic and Reconstructive surgeon
  • Craniofacial Orthodontist
  • Pediatric Dentist
  • Hearing specialist (audiologist)
  • ENT (otolaryngology) specialist in airway assessment
  • ENT specialist in hearing aids and ear canal surgeries
  • Eye doctor (ophthalmologist)
  • Dietitian
  • Genetic counselor
  • Speech pathologist

At Texas Children’s North Austin Campus, our experienced craniofacial team will tailor treatment recommendations to the specific needs of your child with TCS. Our surgical treatment plans are always focused on procedures that give your child the most benefit with the least number of surgeries. In some cases, we may recommend delaying a surgery until your child is older to get the most benefit. Treatments will depend at what age we first meet you and your child. 

  • Soon after being born your child will need a hearing test to determine if they need to meet our hearing specialists. During infancy we also make sure your baby is feeding and breathing well. Specialized feeding bottles and sleep positioning devices may be needed. If a cleft palate is present, we will repair that with a surgery after one year of age. In rare severe cases, some infants struggle so much with feeding and breathing that they do better with a special breathing tube through the skin of the neck (tracheostomy) that is placed by our airway specialists, and a feeding tube through the skin of the belly into the stomach (gastrostomy tube). 
  • In the pre-kindergarten years we will check how your child’s jaws are growing and have our dental specialists examine their teeth development. If the lower jaw is not growing well, we prefer to delay treatment whenever possible, but some children benefit from earlier lengthening of the jaw with a procedure called distraction osteogenesis. If the joint of the lower jaw (TMJ) is missing, our surgeons specialize in a procedure to reconstruct the joint using a piece of the bone and cartilage from your child’s rib. This is done through small 1” scars and is done between age 5-7 years. 
  • Around 5 years of age your child may need a CT scan (computerized tomography) to look at the middle and inner ear structures. CT scans are used to find out whether surgery to restore hearing by our Ear, Nose and Throat (ENT) specialists will be helpful. Our hearing and audiology team in North Austin also specializes in hearing aids such as the OSIA implant. There are many options for treating abnormally shaped ears. We will discuss these with you and your child. Some families choose to do nothing; others choose to have surgery.
  • During middle school years we will continue to monitor your child’s breathing. If we have concerns about how well they breath when they sleep, we will arrange a sleep study to be done at the hospital. During these years we can also talk with you and your child about surgeries that can be done to help the balance or symmetry of their face. These include techniques like micro-fat grafting, cheek reconstruction, or eyelid surgeries. 
  • In the early teenage years most children with CFM will need orthodontics. Our orthodontic treatment is delivered by one of the very few specialists in the country with recognized fellowship training in craniofacial treatment. Your orthodontist will help determine if your teenager will benefit from surgery to reposition the jaw (orthognathic (jaw) surgery).
  • In very severe cases of TCS a child can only breath safely using a tracheostomy. Many of these children have had multiple previous surgeries to try to remove the tracheostomy but without success. Our team specializes in a surgical technique that has been successful in treating these children. Families from across the country come to North Austin for this specific procedure. The procedure is called craniofacial counter-clockwise distraction osteogenesis or C3DO. Learn more about this surgery.