Treacher Collins Syndrome
Treacher Collins syndrome is a rare genetic disorder that leads to the underdevelopment of the bones and other tissues of the face. There can be a wide range of signs and physical characteristics of this disorder, from almost unnoticeable to severe. Craniofacial abnormalities typically involve the cheek bones, mouth, jaw, chin, ears and/or eyes. Individuals with Treacher Collins syndrome often have downward slanting eyes, few eyelashes, and a notch in the lower eyelids called a coloboma. Affected individuals will also have underdeveloped zygomas (cheekbones) and small lower jaws. In addition, this condition may lead to hearing loss or cleft palate. In severe cases, underdevelopment of the facial bones may restrict an affected infant’s airway, causing potentially life-threatening respiratory problems.
What causes Treacher Collins syndrome?
Treacher Collins syndrome is an autosomal dominant disorder, which means that only one parent needs to have the abnormal gene for the child to inherit the disease. Some of the cases are not inherited, which means that there was a new mutation in the child’s genome.
How is Treacher Collins syndrome treated?
Treacher Collins syndrome is a complex condition that requires multiple stages of treatment over the course of the patient’s lifetime. Cleft palate repair is typically done after 6 months of age, but the timing depends on the child’s breathing status. It is also important to diagnose hearing problems early; our speech language pathologist and ENT surgeons will evaluate the child to determine the need for a bone anchored hearing aid (BAHA). The child may also need surgeries to fix the bones of the middle of the face, the ears, and the jaws. The timing of these surgeries will depend on your surgeons. Because the soft tissue of the face is underdeveloped, some children may benefit from fat grafting to improve their facial contour.
What else should I know about treatment?
As a cleft and craniofacial specialist, Dr. Aboutanos is qualified and ready to care for your child as your child grows and develops. She is a member of the accredited Cleft and Craniofacial Team at St. Mary’s Hospital, and she will help coordinate your child's care with other specialists in a multi-disciplinary manner.