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Treacher Collins Syndrome

Treacher Collins syndrome is a condition that affects the lower eyelids, the cheek bones, the soft tissues of the cheek, the ear, and the lower jaw (mandible). Both sides of the face are affected, usually symmetrically. There is a lack of soft tissue in the lower eyelid and cheek, and the cheekbones are quite underdeveloped. The eyes slope downward. The ears may be small, malformed, or absent (see Microtia). The lower jaw is also underdeveloped, resulting in a large “overbite” and the appearance of a “weak chin.”

Is this condition painful?

No, this condition is not painful.

Are there different types of Treacher Collins syndrome?

There is a spectrum of severity with Treacher Collins syndrome. Some patients may have only subtle abnormalities, that are never treated, while others may have very severe deformities that require multiple operations to correct.

Who gets Treacher Collins syndrome?

Treacher Collins syndrome is inherited in an autosomal dominant fashion. That means that the children of a person affected with the syndrome have a 50% chance of having the syndrome also. Some cases may arise sporadically, that is, the parents do not seem to be affected. However, the syndrome can be manifested in very different ways in different individuals, so that very mildly affected parents may have very severely affected children, or vice-versa.

What causes Treacher Collins syndrome?

As mentioned above, Treacher Collins syndrome is caused by a genetic mutation and is inherited as an autosomal dominant condition.

What are the main issues related to Treacher Collins syndrome?

Children with Treacher Collins syndrome have three major problems: 1) inadequate bony support of the cheek, eye sockets, and lower eyelids; 2) poor and inadequate soft tissue in the lower eyelids and cheek; and, 3) a small lower jaw with an abnormal relationship of the upper and lower teeth and, in some cases, breathing difficulty.

Are there other problems that occur commonly with Treacher Collins syndrome?

Children with Treacher Collins syndrome also have malformed or absent ears (see Microtia) and may have hearing loss. They may also have an abnormally large mouth (macrostomia).

What is the treatment for children with Treacher Collins syndrome?

While every patient is treated individually, with treatment plans made specifically for him or her, some generalizations are possible. If the lower jaw is not severely underdeveloped, reconstruction usually begins with the cheek bones. The cheek bones (zygomas) are usually reconstructed with bone grafts taken from the child’s own skull. The bone grafts are taken in such a way that no defects are left in the skull. Soft tissue reconstruction of the lower eyelids and cheek is usually done after the reconstruction of the zygomas.

If the mandible is extremely small, especially if it is causing breathing difficulty, the mandible is treated first. In such severe cases, the mandible is treated early in life with either a bone graft or distraction osteogenesis, a technique of elongating the mandible by slowly stretching it using a special device that is attached to the mandible on either side of a surgically-created break in the mandible. If the mandible is not so severely affected, treatment can be delayed until after the cheekbone reconstruction is completed. Again, either a bone graft or distraction osteogenesis may be used. In the least severe cases, treatment of the mandible is done in adolescence, with surgical repositioning of the upper and lower jaws in one stage.

Other surgical procedures are dependent upon the unique features in each patient. Ear reconstruction may be done before or after mandible reconstruction, depending on the severity of the mandibular deformity (see Microtia). All of these patients require final jaw alignment surgery in adolescence, regardless of whether they have had a jaw reconstructive procedure earlier in life. Finally, in the most severe cases with a very small lower jaw, a temporary tracheostomy (a surgical airway) may have to be placed early in life so that the child can breathe comfortably.

What is done between the time my baby is born and the first surgery?

After the initial Craniofacial Team evaluation, described above, the child is evaluated periodically to ensure that he or she is growing and developing appropriately. A computerized tomography (CT) scan will be done and perhaps repeated at some point before the surgery. Your surgeons will meet with you several times to examine your child and to ensure that all of your questions about the surgery are answered and that you feel comfortable with the whole process.

What sorts of specialists will be involved in my child’s care?

The optimal treatment of children with Treacher Collins syndrome is achieved in a multidisciplinary setting. As noted above, these children may have a number of medical issues that must be addressed. Usually, the specialists involved include the craniofacial surgeon (a plastic surgeon who has done additional specialized training), an otolaryngologist (ENT doctor), a pediatric ophthalmologist, a developmental pediatrician, a geneticist, the pediatric plastic surgery nurse, and an orthodontist./p>

Will we get to know our surgeon?

Because children with Treacher Collins syndrome are followed closely before, during, and after their surgery, you will become very familiar with your surgeons. Treatment is not finished after the surgery, because it is important for us to continue to monitor your child’s growth and development over the long term. This long-term surveillance involves physical examinations and periodic CT scans to ensure that there are no signs of any problems. Your surgeons will guide you and help you through the surgery and postoperative period. In addition, children with Treacher Collins syndrome require multiple surgical procedures throughout their childhood and adolescence, so they and their families often develop a close bond with their surgeon.

Our Team

  • Lynette Baker, RN, CPSN, BSN
    Lynette Baker, RN, CPSN, BSN
    • Nurse Clinician
  • Darren Wittenberger, MD
    Darren Wittenberger, DDS
    • Plastic/Craniofacial Surgery
  • Gale Rice, PhD, CCC-SLP
    Gale Rice, PhD, CCC-SLP
    • Speech Pathology

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Contact Us

If you have questions or concerns, feel free to contact our pediatric plastic surgery nurse at 573-882-4176.