Pediatric Treacher-Collins Syndrome

Pediatric Treacher-Collins Syndrome

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Summary

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.

Expanded overview

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.

Causes

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

Symptoms

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

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