Can Treacher Collins syndrome kill you?
With proper management, life expectancy is approximately the same as in the general population. In some cases, the prognosis depends on the specific symptoms and severity in the affected person. For example, very severe cases of TCS can cause perinatal death because of a compromised airway.
How many people does Treacher Collins syndrome affect?
The condition is also called mandibulofacial dysostosis and Franceschetti-Zwalen-Klein syndrome. Treacher Collins syndrome happens in about 1 in 50,000 newborns worldwide.
How many people in America have Treacher Collins?
The prevalence is estimated to be between 1 in 10,000-50,000 individuals in the general population. Some mildly affected individuals may go undiagnosed, making it difficult to determine the disorder’s true frequency in the general population.
How did Treacher Collins syndrome start?
Treacher-Collins syndrome is a genetic condition, caused by a mutation (change) on a specific gene. Research has identified three genes affected: TCOF1 which is the most common gene mutated as well as the genes POLR1C and POLR1D.
Who is at risk for Treacher Collins syndrome?
About 1 in every 50,000 people is born with TCS. It’s seen in boys and girls equally. Some children have only mild changes to their face, while others experience more severe symptoms. Parents can pass the disorder to their children through their genes, but many times the syndrome develops without warning.
How long do people with Treacher Collins syndrome live?
The life expectancy is normal as long as breathing problems during infancy are managed well. 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.
Why can t Treacher Collins syndrome be cured?
In most cases, the child’s intelligence is unaffected. Treacher Collins syndrome is either inherited or caused by a new change in a gene at the time of conception. There is no cure, but skull and face (craniofacial) surgery can improve speech and reduce some of the more severe craniofacial anomalies.
Can people with Treacher Collins syndrome have kids?
Cause. Treacher Collins syndrome occurs in about one of 10,000 live births. It is a genetic mutation (gene is called TCOF1) that affects the baby’s facial development before birth. If one parent has Treacher Collins syndrome, there is a 50 percent chance that his child will be born with the disorder.
How many people are affected by Treacher Collins syndrome?
Treacher Collins syndrome is a genetic disorder that causes defects in the cranium and facial features. It occurs in around 1 out of 10,000 births and therefore, it is considered a rare condition. This disorder affects and size and shape of the ears, eyelids, cheek bones, upper jaw and lower jaw.
What kind of birth defect is Treacher Collins?
Treacher Collins syndrome is a genetic birth defect characterized by a range of distinctive craniofacial anomalies that can affect the eyes, ears, cheeks, palate and jaw.
What should I do if my child has Treacher Collins syndrome?
Your child may benefit from waiting until she reaches certain developmental milestones before proceeding with other treatments, such as plastic surgery. Children with Treacher Collins syndrome will likely have a combination of the following treatments depending on their unique condition.
What kind of surgery is needed for Treacher Collins?
In many cases, craniofacial reconstruction is needed. Surgery may be performed to repair cleft palate, to reconstruct the jaw, or to repair other bones in the skull. The specific surgical procedures used and the age when surgery is performed depends on the severity of the abnormalities, overall health and personal preference.
Can a person with Treacher Collins syndrome die?
It is not a life-threatening medical condition but the respiratory disorders can cause deaths. Other than that people can live a normal and long life with proper treatments and therapies. The characteristics of the symptoms among people with Treacher Collins syndrome differ.
Treacher Collins syndrome is a genetic birth defect characterized by a range of distinctive craniofacial anomalies that can affect the eyes, ears, cheeks, palate and jaw.
What are the genes involved in Treacher Collins syndrome?
Those affected generally have an average intelligence. TCS is usually autosomal dominant. More than half the time it occurs as a result of a new mutation rather than being inherited from a person’s parents. The involved genes may include TCOF1, POLR1C, or POLR1D.
Why are the cheeks sunken in Treacher Collins syndrome?
The respiratory system of a child with Treacher Collins syndrome is the primary concern when the child is born and other concerns are addressed after respiratory issues have been addressed. Underdevelopment of the zygomatic bone gives the cheeks a sunken appearance.