Chromosomal and Genetic Conditions

Treacher Collins Syndrome Symptoms and Diagnosis

Symptoms of Treacher Collins Syndrome

The most obvious facial difference for children with Treacher Collins syndrome is the lower eyelid shape and the lack of normal cheekbones.

The ears may be normal, but are often small or malformed and can be missing. Hearing impairment is often part of the syndrome.


  • Microtia (small ear)
  • Missing ear
  • Aural atresia (no ear canal)
  • Other ear differences


  • Missing or small zygomas (cheekbones) and superior orbital rim (brow bones)
  • Downward sloping eyes
  • Coloboma (clefting or failing of the closure of the optic nerve) of the lower eyelids
  • Macrostomia (wide mouth)

Jaws and teeth

  • Limited opening of the mouth
  • Small lower jaw
  • Malocclusion (anterior open bite)
  • Steep downward angle of the upper and lower jaws
  • Cleft palate (an opening in the roof of the mouth) or high vaulted palate

Most children with Treacher Collins syndrome have facial-related problems including: speech and swallowing problems; vision problems related to eyelid function; hearing problems related to inner and outer ear abnormalities; and airway, breathing and sleep problems related to a small lower jaw and a normal-size tongue.

Sometimes children with Treacher Collins syndrome have other parts of the body that are affected. Some children will have differences of the hands with the thumbs affected.

Treacher Collins Syndrome Diagnosis

Sometimes Treacher Collins syndrome is diagnosed before a baby is born because the abnormal facial features are visible during an ultrasound.

To diagnose this condition after birth, your doctor will examine your child carefully. An exam may be all that's needed for diagnosis.

Your doctor may take X-rays or CT scans to confirm what they found in the exam. A CT scan is an X-ray procedure that takes a computer-enhanced cross-sectional view of the body.