Treacher Collins Syndrome (TCS)
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Treacher Collins Syndrome (TCS)
Other names: TCS; TCOF; Treacher Collins-Franceschetti Syndrome; Mandibulofacial dysostosis; MFD1
What is Treacher Collins Syndrome?
Treacher Collins Syndrome (TCS) is a rare genetic disorder that affects the development of the bones and soft tissues in the face. Some of the common features of Treacher Collins Syndrome include underdeveloped cheekbones, a small mouth and jaw, ear abnormalities, downward-slanting eyes, and cleft palate. These features may vary in severity, and can affect both appearance and function – including breathing, feeding, and hearing.
Causes/Genetics
Treacher Collins Syndrome may be caused by mutations in the TCOF1, POLR1C, or POLR1D genes, which play an important role in the early development of facial bones and tissues. Mutations in these genes can disrupt the normal development of the bones and tissues, resulting in the characteristic features of TCS. When mutations in the TCOF1 or POLR1D genes are responsible for the condition, it is inherited in an autosomal dominant manner, which means that an individual only needs to inherit one copy of the mutated gene from either parent to develop the condition. When a mutation in the POLR1C gene is responsible for the condition, it is inherited in an autosomal recessive manner, which means that an individual needs to inherit a copy of the mutated gene from both parents to develop the condition. In some cases, a person may develop Treacher Collins Syndrome even if they do not have a family history of the condition due to newly arising genetic mutations.
Treatment
Treatment for Treacher Collins Syndrome may involve surgery to reconstruct facial bones, improve hearing or breathing, and correct cleft palate. People with Treacher Collins Syndrome may also need other supportive measures such as speech and language therapy and hearing aids. Genetic counseling may also be recommended for individuals and families affected by Treacher Collins Syndrome.
myFace Provides Support for People Living with TCS and Other Craniofacial Conditions
myFace provides a variety of direct services and educational programs to help meet the needs of the craniofacial community, including:
(1) myFace Virtual Support Groups provide counsel and community for individuals and their families living with facial differences. These help participants to feel safe, supported, and never alone. myFace offers Support Groups for adults, adolescents, and both English-speaking and Spanish-speaking parents.
(2) Parent Guides provide resources and guidance to assist parents as they support their child’s journey.
(3) Transforming Lives Webinar Series offers webinars with craniofacial experts on topics of interest to the community.
(4) myFace, myStory Podcast Series offers monthly interviews and roundtable discussions on topics of interest to the craniofacial community.
(5) myFace’s Guide to Craniofacial Surgeries serves as a guide to patients’ surgical experience, providing in-depth information on some of the most common craniofacial surgeries.
(6) myFace | Your Impact Newsletter provides the community with regular updates.
(7) myFace Family Apartments provide free housing for out-of-town families seeking treatment in New York City.
(8) myFace Wonder Project School Assemblies provides students with the tools they need to unite against bullying and to implement acts of kindness in their schools and in their communities.
(9) myFace Events provide opportunities for the craniofacial community to gather together.
References
- Genetic and Rare Disease Information Center. (2023). Treacher Collins Syndrome. National Institutes of Health. https://rarediseases.info.nih.gov/diseases/9124/treacher-collins-syndrome
