Treacher Collins Syndrome

Treacher-Collins syndrome is an inherited birth defect that affects approximately 1 out of every 50,000 people.

The disorder affects the bones and tissue growth in the face. Because the severity vary from one case to another, some affected patients will have unnoticeable or slightly noticeable abnormalities and others will have severe malformations.

Common characteristics include underdeveloped cheek bones, small jaw and chin, cleft palate, minimal eyelashes, coloboma, vision loss, abnormalities in the ears, hearing loss and respiratory complications from restricted air flow. Because the cheek area lacks proper bone growth, it is common for the eyes to become droopy and slant downwards.

Treatment includes monitoring of hearing loss and vision complications, as well as plastic surgery for facial abnormalities.