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This syndrome is a genetic disorder that mainly affects the bones and tissues in a child's face. It is rare, only affecting about one out of every 50,000 children. 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.
TCS stems from mutations in one of three genes.
POLR1C: If this gene is affected, it is recessive. This means that it must be inherited from both parents. The parents do not usually know they carry this gene. However, if both parents carry the gene, it is likely to be passed on to their children. The odds for each child are:
TCOF1 or POLR1D: If either of these genes is the cause, the genetic defect is dominant. This means that a child can inherit the condition from one parent, or at random.
Besides having a parent or other family member with this condition, doctors are not aware of any other risk factors for TCS. Some parents who have babies born with TCS get tested and find out they carry the gene for it, or even that they have a very mild case themselves.
TCS can cause several problems that affect the facial bones and surrounding tissues. These can include:
Children with Treacher Collins who are not treated can have lifelong complications from any or all of these issues.
TCS has a specific set of facial features that appear in most children with this disorder. These include:
Because the bones in the middle of the face are smaller than they should be, they can affect a child's breathing. As many as half of children with TCS may have hearing loss or deafness. This generally happens when some bones in the ear are missing.
Most cases of TCS are diagnosed at birth, when the doctor notices facial features common to this condition. However, doctors may also discover it when they see the child's face during a routine pregnancy ultrasound. Blood tests (genetic tests) confirm this diagnosis.
Treating TCS involves relieving symptoms caused by the unusual facial features it causes. Children may need many different types of specialists and tests to find and address the problems caused by TCS so it is important that patients be treated by a team of providers who specialize in this disorder. Doctors will focus on treating the most serious problems first.
The most urgent need for many children with TCS is to improve their breathing.
Doctors will usually perform important surgical procedures in the first few years of life in order to:
Doctors usually delay reconstructive surgery of the ears until a child reaches the school age. Jaw surgery may wait even longer, until the teenage years, to ensure that the jaw has grown to its full size.
Some surgeries a child with Treacher Collins syndrome may need are:
Not all cases of TCS require surgery. Even so, children with TCS may still need treatments. As your child grows, their needs will change, so it is important to choose a doctor that will continue with your child's care long term.
Other services your child may need include:
There are currently no other treatments for TCS. However, researchers are looking at new, nonsurgical treatments that take advantage of stem cells.
TCS currently has no cure because the genetic changes happen very early on in a pregnancy. Once the face is fully formed in the womb, there is no way to change it, except with surgery. However, this condition does not have to stop children from leading full lives. Early treatment is the key to helping children with TCS to grow to be healthy adults.
Treating TCS can be a long and complicated process involving many different specialists. Our specialists see children in the Cleft-Craniofacial Center of UPMC Children's Hospital of Pittsburgh every day. Parents who choose our center for care rely on coordinated appointments that take the parents' time into account. The parents of more than 3,000 children choose our services each year, based on our 50-year reputation of excellence in care.
Meet our team at UPMC Children's Hospital of Pittsburgh's Cleft-Craniofacial Center and learn about our treatment options, or contact UPMC Children's Hospital of Pittsburgh at 412-692-8650.
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