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