Pediatric Treacher-Collins Syndrome

Pediatric Treacher-Collins syndrome is a genetic disease (present at birth) in which the facial bones and tissues do not properly develop. The condition may change a child’s appearance, specifically the ears, eyes, cheeks and jaw.

What is Pediatric Treacher-Collins Syndrome?

Children born with Treacher-Collins syndrome will have one or more facial defects. The condition impacts each child differently and the symptoms may or may not be noticeable. Children with Treacher-Collins syndrome may have additional complications like restricted airways. The genetic mutation does not typically impact learning or intellectual development.

What are the signs and symptoms of Pediatric Treacher-Collins Syndrome?

Symptoms of Treacher-Collins syndrome include:

  • Blocked or narrowed nasal passages
  • Cleft palate (opening in the roof of the mouth)
  • Downward-slanting eyes
  • Flattened or missing cheekbones
  • Hearing loss
  • Large nose
  • Large or misshapen ears
  • Misshapen lower eyelids with missing eyelashes
  • Missing or misshapen ear bones
  • Small or missing ear canals
  • Vision loss

What are the causes of Pediatric Treacher-Collins Syndrome?

The exact cause of Treacher-Collins syndrome is unknown, but it is due to a genetic mutation.

Pediatric Treacher-Collins Syndrome Doctors and Providers