What is Treacher Collins syndrome?
Treacher Collins syndrome (TCS) is a genetic condition that mainly affects the structure of the face. The characteristic facial appearance may include downward slanting eyes, "notching" of the lower eyelids (coloboma), underdeveloped cheek bones, small lower jaw (micrognathia), and small, missing, or unusually formed ears. Other features can include vision problems, hearing loss, sparse or missing lower eyelashes, cleft palate (opening in the roof of the mouth) and narrowing of the nose (choanal stenosis/atresia). The facial features are usually symmetric (the same on both sides of the face) and present at birth. People with TCS usually have normal intelligence.
The severity of the facial features can vary significantly from person to person, even when two people in the same family have TCS. Some individuals have such mild features of TCS that they may go undiagnosed. Others may have more significant facial involvement. The complications that can result from these facial differences are also highly variable and can affect an individual's ability to hear, breath, and eat. There can be life-threatening complications with breathing in infancy.
Treacher Collins syndrome can occur for the first time in a family as a new genetic change in a person (de novo mutation), or can be inherited in families. Because some people with TCS have such mild features of TCS, the best person to help you understand whether it might be new to your family or inherited in your family is a geneticist. For parents in which neither the mother or father has TCS, the chance of having another child with TCS is very small. An adult with TCS has a 50% chance of passing on TCS to his or her children.
The best person to diagnose TCS is a geneticist or a specialist with a craniofacial clinic. Ask your doctor to recommend a specialist or clinic in your area. To find a genetics clinic you can search on the American College of Medical Genetics for a genetics clinic near you. A craniofacial team in your area may be found by using the list provided by FACES: The National Craniofacial Association under "Medical Centers".
SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/treacher-collins-syndrome/overview/6510 • DATE UPDATED: 2016-06-02
Treacher Collins Syndrome - NORD (National Organization for Rare Disorders). (2013). Retrieved February 29, 2016, from http://rarediseases.org/rare-diseases/treacher-collins-syndrome/
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/