Treacher Collins syndrome (also known as TCS) is a condition that involves facial deformation, and has a lot of implications for your general health. 

 

TCS is a genetic disorder that is caused by a mutation in the TCOF1, POLR1C, or POLR1D genes (Wikipedia, 2022). This mutation impacts bone and tissue development (US Department of Health, GARD). TCS is a rare disorder that occurs to one person in every 50,000 people (Wikipedia, 2022). 

 

The symptoms of TCS can range from very mild to very severe. The majority of people affected have underdeveloped facial bones, resulting in deformities and absent or unusually formed ears (US Department of Health, GARD). In very severe cases they can have very dangerous respiratory problems. Other complications can include hearing loss, loss of slight, cleft palate, trouble swallowing (Wikipedia, 2022). There can be psychological symptoms as well such as depression, anxiety and body image problems.

 

Currently there is no cure for TCS. However there are treatments that can help for some people with TCS. For example, there are surgeries such as distraction osteogenesis and others for individuals’ eyes or cleft palate. Other treatments include bone grafting, fat grafting, otoplasty, and psychotherapy (Children Hospital of Philadelphia, 2022).  Each person with TCS will have a different set of treatments.

 

When supported, people with TCS can live fulfilling lives and overcome the challenges of the disease. 

 

Reference

Children Hospital of Philadelphia, 2022. Treacher Collins Syndrome

https://www.chop.edu/conditions-diseases/treacher-collins-syndrome

 

US Department of Health, GARD. https://rarediseases.info.nih.gov/diseases/9124/treacher-collins-syndrome

 

Wikipedia, 2022, Treacher Collins Syndrom https://en.wikipedia.org/wiki/Treacher_Collins_syndrome