Treacher Collins Syndrome (TCS)
What is Treacher Collins Syndrome (TCS)?
Treacher Collins syndrome (TCS) is a rare disorder characterized by distinct abnormalities of the head and face. It affects the development of bones and tissues in the face, which leads to underdevelopment in the cheek bones, and a very small chin and jaw. Abnormalities are usually present at birth.
TCS affects males and females equally and is estimated to occur in about 1 in 50,000 people. However, since some cases are very mild, they may go undiagnosed.
What are the symptoms of TCS?
The signs in TCS can vary greatly, meaning that not every person will have all the symptoms listed below. They include:
- Underdeveloped cheek bones
- Small jaw and chin
- Cleft palate
- Downward slanting eyes
- Sparse eyelashes
- Notches in the lower eyelids
- Small, unusually developed, or completely absent ears
- Hearing loss
- Respiratory problems
- Feeding problems
- Vision impairment
What causes TCS?
When a gene mutates, it can lead to diseases. TCS can be inherited in different ways depending on which gene has mutated to cause the disease. In about sixty percent of cases, TCS is caused by a spontaneous mutation, meaning that it occurs in people with no family history of the disease.
In other cases, TCS is inherited. Human traits are inherited from a person’s father and mother; each one contributes a copy of a gene, which interacts with the other copy. When the TCOF1
genes are affected, TCS is inherited in an autosomal dominant pattern, which means that only one parent needs to pass down a copy of the gene for the condition to occur. However, when the mutation occurs in the POLR1C
gene, TCS is inherited in an autosomal recessive pattern. This means that both parents need to pass down a copy of the defective gene for the condition to occur.
These genes affect early development of the face, before birth. Their mutations are what lead to the defects in facial structure.
TCS can occur from mutations in other genes, but the specific genes have yet to be identified.
How is TCS diagnosed?
TCS is diagnosed using the following procedures:
- Thorough evaluation
- Detailed recording of patient history
- Identifying characteristic physical symptoms
- Genetic testing
What are the treatments for TCS?
Since there is no cure for TCS, treatment focuses on dealing with each patient’s specific symptoms. Treatment includes:
- Close monitoring of infant’s hearing to mitigate chances of hearing loss
- Surgery to correct changes in facial structure
- Speech therapy
- Genetic counseling
- Implementing breathing aids if there is severe respiratory obstruction
- Use of hearing aids
Where can I find out more about TCS?