Key Points about Treacher Collins Syndrome

  • Facial parts most often affected are the ears, eyelids, jaws and cheekbones
  • TCS is rare and occurs in about one in 20,000 births
  • The syndrome is also referred to as mandibulofacial dysostosis or Franceschetti-Zwalen-Klein syndrome

Treacher Collins syndrome causes

The cause of 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 cases are not inherited, which means that there was a new mutation in the child’s genome.

Treacher Collins syndrome symptoms

Treacher Collins syndrome may be mild to severe. If mild, a child may have subtle eye changes and mild hearing loss. If severe, the child may have more distinct abnormalities.

Symptoms of TCS may include:

  • Downward slanting eyes
  • Few eyelashes
  • Notch in the lower eyelids (coloboma)
  • Underdeveloped cheekbones (zygomas)
  • Small lower jaws.
  • Opening in the mouth (cleft palate)
  • Hearing loss
  • Small ears
  • Abnormal development or misaligned teeth
  • Vision loss
  • Difficulty swallowing
  • Respiratory problems and restricted airways (severe cases)

Treacher Collins syndrome diagnosis

Diagnosing Treacher Collins syndrome may be diagnosed with a simple medical exam. However, if severe, a doctor may request a CT scan and/or X-Ray.

Treacher Collins syndrome treatment

Treacher Collins syndrome is a complex condition that requires multiple stages of treatment over the course of the patient’s lifetime.

Treatment may require:

  • Cleft palate repair, this is typically done after age 6 months but depends on the child’s breathing status
  • Need for a bone anchored hearing aid (BAHA)
  • Surgeries to fix the bones of the middle of the face, ears and jaws. Because the soft tissue of the face is underdeveloped, some children may benefit from fat grafting to improve their facial shape.