Individuals and families affected by Treacher Collins Syndrome (TCS) must understand its causes, symptoms, diagnosis, treatment, and prevention.
Mutations in specific genes responsible for the development of facial bones and tissues during fetal growth are primarily responsible for TCS. Typically, these mutations occur spontaneously, but sometimes they can be inherited from parents who carry the mutated gene.
TCS symptoms vary in severity, but commonly include:
Underdeveloped cheekbones, jaw, and chin resulting in downward-slanting eyes, a small lower jaw, and abnormal ears.
Loss of hearing due to malformations or absences of the outer and middle ear structures.
A narrow airway and obstruction of the nasal passages can cause breathing difficulties during infancy.
A structural abnormality in the mouth or throat may result in difficulty articulating sounds and speech delays.
Malocclusions, missing teeth, and other dental anomalies are common in people with TCS.
TCS is typically diagnosed by:
Performing a physical examination by a healthcare professional involves assessing facial features and physical development.
DNA testing to identify mutations in genes associated with TCS.
Tests of hearing function to detect hearing loss and assess hearing function.
CT scans or MRI scans may be used to visualize facial structures and confirm the diagnosis.
TCS is treated on a physical, functional, and psychological level, including:
Reconstructive surgery to correct facial deformities, improve breathing, and improve hearing.
Individuals with hearing loss can communicate more effectively with hearing aids.
The aim of speech therapy is to improve speech articulation and language development through techniques and exercises.
Treatment of dental abnormalities with orthodontic treatment and dental prosthetics.
Counseling and support services to help individuals and families cope with emotional and social challenges associated with TCS.
TCS is a genetic disorder, so prevention strategies focus on genetic counseling and family planning:
Individuals with a family history of TCS or carrying the mutated gene may benefit from genetic counseling to understand the risks and available treatment options.
During pregnancy, screening tests such as ultrasounds and genetic testing can help identify potential cases of TCS.
Preimplantation genetic diagnosis (PGD) or adoption may be options for couples with a history of TCS or known carriers of the mutated gene.
