What causes Treacher syndrome?

What causes Treacher syndrome?

What Causes Treacher Collins Syndrome? Almost all children with TCS have a mutation (change) in one of three genes that control bone growth in and around the face. The mutation causes a change in a baby’s growth very early in pregnancy. For a few people with TCS, the gene causing the problem is not known.

What is the main cause of Treacher Collins syndrome?

Mutations in the TCOF1, POLR1C, or POLR1D gene can cause Treacher Collins syndrome. TCOF1 gene mutations are the most common cause of the disorder, accounting for 81 to 93 percent of all cases. POLR1C and POLR1D gene mutations cause an additional 2 percent of cases.

What is life expectancy for someone with Treacher Collins syndrome?

A patient diagnosed with Treacher Collins syndrome (TCS) may expect to have approximately the same lifetime as the general population with proper management and a healthy lifestyle. The life expectancy is normal as long as breathing problems during infancy are managed well.

Is Treacher Collins syndrome fatal?

Treacher Collins syndrome is not curable. Symptoms may be managed with reconstructive surgery, hearing aids, speech therapy, and other assistive devices. Life expectancy is generally normal. TCS occurs in about one in 50,000 people.

Does TCS affect the brain?

Treacher Collins syndrome (TCS) does not affect growth or brain development, but it can cause breathing, hearing, and vision problems. Doctors usually notice the signs of this condition at the time of birth, but genetic testing can verify the diagnosis.

What are 5 facts about Treacher Collins syndrome?

Treacher Collins syndrome definition and facts* Eyes that slant downward away from the nose. Very few eyelashes and a notch in the lower eyelids (coloboma eye) Ears that are absent or unusually formed. Some individuals may have hearing loss.

Can people with Treacher Collins syndrome live happy?

What is the prognosis and life expectancy for a person with Treacher Collins syndrome? Usually, people with TCS grow to become functioning adults with normal intelligence. With proper management, life expectancy is approximatelythe same as in the general population.

Who is most likely to get Treacher Collins syndrome?

TCS affects males and females in equal numbers. The prevalence is estimated to be between 1 in 10,000-50,000 individuals in the general population.

How does the TCS affect the person’s appearance?

People with TCS often have eyes that slant downward, sparse eyelashes, and a notch in the lower eyelids called an eyelid coloboma. Some individuals have additional eye abnormalities that can lead to vision loss. It also characterized by absent, small, or unusually formed ears.

Is Treacher Collins syndrome detected before birth?

Conclusion: Treacher Collins syndrome can be prenatally detected by ultrasound and should be included in the wide range of genetic syndromes that can be diagnosed at perinatal autopsy. Affected fetuses tend to have a more severe phenotype than living patients.

Does Treacher Collins syndrome affect intelligence?

Treacher Collins syndrome is a genetic disorder that affects growth and development of the head, causing facial anomalies and hearing loss. In most cases, the child’s intelligence is unaffected.