Is there a treatment(s) for Treacher Collins syndrome (TCS)?
While there is no cure for Treacher Collins syndrome (TCS); early detection, treatment and surgical management may help prevent or reduce the health issues that people with TCS may experience. Individuals with TCS may have differences of the skull and face that affects their ability to hear, breathe, and eat. Bone and dental problems as well as psychological issues dealing with appearance may be present. The treatment is tailored to the specific needs of each individual. Some people with TCS may have few or no medical needs and may not need treatment.
Treatment is often managed by a multi-disciplinary craniofacial team that usually includes specialists in genetics, audiology (hearing), plastic surgery, oral surgery, otolaryngology (ear, nose and throat), dentistry, orthodontics, speech pathology and psychology.
After the initial diagnosis of TCS has been made, the following evaluations are recommended to determine the extent to which an individual is affected and what treatments may be necessary.
1. Evaluate the narrowness of the airways that may cause difficulty breathing;
2. Assess the palate (roof of the mouth) for a cleft (opening);
3. Evaluate how well the person can swallow;
4. Formal hearing examination;
5. Eye exam;
6. Dental exam when teeth have come up.
From birth to two years of age, the main management issues are airway management and feeding difficulties. Special positioning of the infant to help keep the airway open may be used. Some children with severe breathing difficulty may require intubation (a breathing tube inserted). Sometimes surgery may be required to open the breathing passages. A feeding tube is sometimes needed to make sure enough calories are taken in while protecting the airway because severe breathing problems require a lot of energy and a person cannot breath and eat at the same time.
Other treatments can include surgery to repair cleft palate as well as bone reconstruction of the facial structures. These surgeries are performed in steps. The timing, as well as the number of surgeries and their extent, depends on the severity of the involvement of the facial and jaw bones.
Individuals with hearing impairment may require a hearing aid, speech therapy and educational intervention. There are specialized hearing aids that can be worn by individuals who have ears that will not fit traditional hearing aids.
After six years of age reconstruction of the outer (external) ear could be done and should be performed before reconstruction of the external auditory canal (ear canal/tube) or middle ear. Reconstruction of the ear canal or middle ear can be performed in individuals with underdeveloped outer ear structures (microtia) and/or narrow ear canals.
Some individuals may need dental surgery.
Vision testing and treatment for the eyelid notching (coloboma) with botulinum toxin or surgery may also be necessary.
A craniofacial team is helpful for comprehensive management and can sometimes help reduce the number of surgeries needed by coordinating to perform multiple procedures at the same time. A craniofacial team in your area can be found by talking to doctors about who which specialists they recommend or using the list provided by FACES: The National Craniofacial Association under "Medical Centers".
- Jones, K. L., & Smith, D. W. (2006). Smith's recognizable patterns of human malformation (6th ed.). Philadelphia: Elsevier Saunders.
- Katsanis SH, Jabs EW. Treacher Collins Syndrome. 2004 Jul 20 [Updated 2012 Aug 30]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1532/