Treacher Collins syndrome is a genetic abnormality present at birth that can affect the eyes, ears, cheeks, palate, and jaw. These differences can range from mild to severe often causing problems with breathing, swallowing, chewing, hearing and speech. Treacher Collins syndrome is a condition that affects an estimated one in 50,000 people. Majority are new mutations but some cases are passed down from the mother or father.
While Treacher Collins syndrome has similar effects on facial appearance, it shows up differently in each individual. The facial differences may include a combination of the following.
- Eyes: downward sloping eyes; slight notching of the lower lids; vision problems
- Ears: small or missing ears; no ear canal or missing bones in the ear affecting
- Mid-face: small, underdeveloped or missing cheekbones
- Jaw and lower face: cleft palate; tongue retraction/displacement; speech and swallowing problems; airway, breathing and sleep problems
|TREATMENT & MANAGEMENT|
The treatment of Treacher Collins syndrome varies from patient to patient and depends on the severity of the condition and long-term needs of the child. Consultation with an experienced craniofacial team is very important in achieving the best outcomes for your child. Reconstruction is typically performed by a pediatric plastic and reconstructive surgeon.