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Treacher Collins syndrome (TCS) 101
Treacher Collins syndrome (TCS) is a rare congenital craniofacial deformity that causes underdeveloped jaw and cheek bones. Children with TCS have very small or absent cheekbones, stretching of the lower eyelids, abnormal ears and their lower jaw is normally small.
Below are some common questions we receive from parents whose children are diagnosed with TCS.
How common is TCS?
TCS occurs in about 1 out of every 10,000 births.
What causes TCS?
TCS is caused by a mutation in various genes. There are two ways in which TCS can occur. One way is a new mutation. When this happens, both parents pass on normal genes to their unborn child, but during early development a change in one of the genes leads to a mutation.
The second way is TCS develops by inheriting the gene mutation from the parents. Sometimes the parents might have such a mild form of TCS that it goes undetected and is not realized until the child is born.
What are the symptoms of TCS?
TCS can cause a wide variety of problems. A child might not have all of these problems, but most children with TCS have underdeveloped facial bones, as well as a small jaw and chin. Other issues include abnormal external ears, hearing loss, defect in their lower lids, scalp hair that reaches the cheeks and cleft palate.
How is TCS diagnosed?
TCS is sometimes diagnosed before a baby is born because of the abnormal facial features seen during an ultrasound. At birth, a diagnosis can be made by assessing the signs and symptoms of your baby. Genetic testing can also help identify and confirm any gene mutations linked to TCS.
Is there a treatment for TCS?
Proper treatment normally involves a team of doctors who specialize in pediatric craniofacial, otolaryngology and plastic surgery. Some children with TCS will need a series of operations coordinated amongst these teams. Depending on your child’s severity of TCS, some of the following treatments might be needed:
- Surgery to reshape the cheekbones
- Surgery to repair nose and eyelids
- Surgical reconstruction of the ears
- Surgery to improve feeding and/or breathing
- Hearing tests with an audiologist
- Special hearing aids
- Speech therapy
- Orthodontics, to straighten teeth
- Surgery to lengthen the lower jaw
- Jaw surgery to align the upper and lower jaw
- Surgery to fill in the cheeks and soft tissue of the face