What causes TCS?
Treacher Collins syndrome (TCS) is caused by changes ( mutations ) in any of several genes : TCOF1 (in over 80% of cases), POLR1C, or POLR1D. In a few cases, the genetic cause of the condition is unknown. These genes appear to play important roles in the early development of bones and other tissues of the face.
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.
What is the life expectancy of 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.
Can you detect Treacher Collins syndrome?
Diagnosing Treacher Collins Syndrome Your doctor may take X-rays or CT (computed tomography) scans to confirm the diagnosis. Rarely, Treacher Collins syndrome is diagnosed before a baby is born if the abnormal facial features are seen during an ultrasound.
Who has Treacher Collins syndrome?
TCS affects about one out of every 50,000 babies born. TCS is always genetic but usually isn’t inherited. For about 60% of the children who get it, neither parent carries the gene. For them, the chances of passing it along to another child are quite low.
What is it called when a baby is born without a face?
They called it ignorance. Juliana has a genetic condition called Treacher Collins syndrome. She’s missing up to 40 percent of the bones in her face. Juliana’s parents think their daughter is still “showing the world” that if you don’t look inside people you’re making a terrible mistake.
Can a child be born with no face?
JACKSONVILLE, Fla. — Juliana Wetmore is known around the world as “The Girl Born Without a Face.” Her story went viral a year after she was born. Her face didn’t look human when she was born.
Can people with Treacher Collins have children?
If one parent has Treacher Collins syndrome, there is a 50 percent chance that the child will be born with the disorder. Unaffected parents who have one child with Treacher Collins syndrome rarely give birth to a second child with the condition.
How is Treacher Collins transmitted?
When Treacher Collins syndrome is caused by mutations in the POLR1C gene, the condition has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means both copies of the gene in each cell have mutations.