Treacher Collins syndrome

What is Treacher Collins syndrome?

Treacher Collins is a genetic disorder that occurs in around 1 in every 50,000 births., making it a rare disease.

Symptoms may vary considerably between individuals but the condition mainly affects the development of bones and tissue in the face.

What gene changes cause Treacher Collins syndrome?

Mutations in the TCOF1 gene cause 90-95% of the cases of the syndrome. The remaining cases are caused by mutations to the POLR1C, POLR1B, POLR1D genes. The disease is inherited in 40% of cases, with the majority being the result of a spontaneous mutation.

n some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.

However Treacher Collins in the family may make future babies more susceptible to the condition.

What are the main symptoms of Treacher Collins syndrome?

The main symptoms of the syndrome mainly relate to the face.

These unique facial features include a lazy eye, sparse or absent eyelashes, abnormal or small cheekbones, a smaller lower jaw and chin.
Ears may be smaller, malformed or even absent and hearing loss is an issue in individuals with the syndrome. As is a cleft palate.

Individuals may also have fewer teeth, and misaligned, discolored teeth.

Speech and motor development delay are not uncommon in individuals with the syndrome as well.

How does someone get tested for Treacher Collins syndrome?

The initial testing for Treacher Collins syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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