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.
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)
Flattened or missing cheekbones
Large or misshapen ears
Misshapen lower eyelids with missing eyelashes
Missing or misshapen ear bones
Small or missing ear canals
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.