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.
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.
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 age 6 months but depends on the child’s breathing status. It is also important to diagnose hearing problems early therefore 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.