Treacher Collins Syndrome, also known as Mandibulofacial Craniosynostosis is a condition that affects the development of the bones and tissues of the face. It is estimated that Treacher Collins syndrome affects 1 in 50,000 people.
Characteristics of Treacher Collins Syndrome
The symptoms of Treacher Collins vary greatly and range from almost unnoticeable to severe. Typically, the syndrome is characterized by underdeveloped cheekbones and jawbones, but individuals with Treacher Collins may exhibit any number of the following characteristics.
- Down-slanting eyes
- Notched lower eyelids
- Underdeveloped or absent cheekbones, side walls and floors of the eye sockets
- Small lower jaw
- Malformed ears
Causes of Treacher Collins Syndrome
It is believed that Treacher Collins Syndrome is caused by mutations in the TCOF1, POLR1C or POLR1D gene. TCOF1 mutations are the most common cause of Treacher Collins. TCOF1, POLR1C and POLR1D all produce proteins that are involved in the early development of facial bones and tissue.
The disorder can be inherited when one parent passes on the Treacher Collins gene; or it can occur randomly from a new mutation. About 40% of the cases of Treacher Collins are inherited, and 60% occur from a new gene mutation in individuals with no family history of the disorder. Treacher Collins Syndrome can follow an autosomal dominant inheritance pattern or an autosomal recessive pattern. When mutations in the TCOF1 or POLR1D genes occur, the syndrome is considered autosomal dominant (only one parent has the altered gene). When the syndrome is caused by mutations in the POLR1C gene, it is considered to follow a recessive inheritance pattern, and both parents must carry the altered gene for it to be passed on.
Complications associated with Treacher Collins Syndrome
While individuals with Treacher Collins typically have normal development and normal intelligence, there are some complications associated with the disorder:
- Eating difficulties
- Breathing problems
- Hearing loss – most children have 40% hearing loss in each ear due to abnormalities of the outer and middle ear
- Dry eyes leading to infection
- Cleft palate
Treatment of Treacher Collins Syndrome
Depending on the severity of the symptoms and complications, a number of treatments may be needed. Treatment can significantly improve quality of life for children with Treacher Collins Syndrome. Surgery is commonly performed to:
- Repair the sidewall and floor of the eye socket
- Rebuild the cheekbones
- Repair the lower eyelid notches
- Correct the underdeveloped jaw and chin
- Correct the cleft palate
- Reconstruct the ears
- Reconstruct the nose
In addition to surgery, treatments such as hearing aids, dental and orthodontic procedures, and speech therapy can be extremely beneficial for children with Treacher Collins Syndrome.
Please contact the Craniofacial Team of Texas if you would like to schedule an appointment.
If you would like more information about this craniofacial anomaly, please contact the Craniofacial Team of Texas by calling 512-377-1142 or toll free 877-612-7069 to schedule an appointment or complete an online appointment request.