Life With Treacher Collins Syndrome

Treacher Collins syndrome or mandibulofacial dysostosis is a genetic and congenital (by birth) condition that usually affects the development of bones and structures of the face. Babies who have it are usually born with deformed ears, eyelids, cheekbones, and jawbones. These differences often cause problems with breathing, swallowing, chewing, hearing, and speech. Problems with teeth and dry eyes may lead to infections.

• The other common signs and symptoms include:

1. Flat, sunken, or sad look on the face
2. Really small cheekbones
3. Eyes that slant down
4. Missing eyelid tissue
5. Notch in the lower eyelid
6. An opening or split in the roof of the mouth cleft palate and upper lip (cleft lip)
7. Abnormal airway
8. Small upper and lower jaw and chin
9. Misshapen or missing ears
10. Skin growth in front of the ear

• Causes: Treacher Collins syndrome is caused by an abnormality in someone’s genes, and it arises before they are born. If neither parent has TCS, the chances of having a child with TCS is very low. An adult with TCS has a 50% chance of passing on TCS to their children.
• In over 80 to 93% of cases, Treacher Collins syndrome is caused by changes (mutations) in any of these genes: TCOF1, POLR1C, or POLR1D. These genes appear to play important roles in the early development of bones and other tissues of the face. They are involved in making proteins that help make ribosomal RNA (rRNA). rRNA is a chemical needed to make new proteins that are necessary for normal function and survival of cells. Mutations in these genes can reduce the production of rRNA, which may cause cells involved in the development of facial bones and tissues to die early. This premature cell death may lead to the signs and symptoms of TCS. It is still unclear why the effects of these mutations are generally limited to facial development.
• In a few cases, the genetic cause of the condition is unknown. Genetic mutations are usually thought of as inherited, but most of the mutations that cause this syndrome are found in people without any affected relatives.
• Treacher Collins syndrome is normally caused by a new mutation that occurs at random in a sperm or egg cell before or at the time of conception. There are over 120 different identified mutations that can cause this disorder.
• Treacher Collins syndrome can occur for the first time in a family as a new genetic change in a person (de novo mutation) or may be inherited in families.

Treacher Collins syndrome cannot be cured; however, signs and symptoms may be managed to give the child a near to normal appearance with better functional ability:

• Breathing problems: Initially, stabilizing a child’s breathing problems will require treatment as it may be life-threatening. An artificial opening into the windpipe to allow patients to breathe is one of the surgeries. Other cases may only need breathing support at night.
• Feeding problems: Feeding problems may be helped with a feeding tube or gastrostomy tube directly into the stomach bypassing the mouth and throat.
• Facial reconstruction: Patients may undergo facial reconstruction surgery to get a normal appearance through bone grafts or implants. It may also help in closing the opening in the roof of the mouth, repairing the underdeveloped jaw, cheekbones, ears.
• Hearing problems: Addressing any issues with hearing is crucial. The hearing ability must be tested at birth and routinely thereafter. Hearing aids and speech-language therapy are often required.
• Regular eye exams may be done to look for problems with vision, eye movements, and cornea exposure.

Final corrections are usually completed between the ages of 16 and 20 years.