Treacher Collins Syndrome

What Causes Treacher Collins Syndrome?

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:

• 25 percent that the child will not inherit the gene
• 50 percent that the child will inherit the gene
• 25 percent that the child inherits the gene from both parents and has the syndrome

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.

• About 60 percent of children with Treacher Collins develop the condition for unknown reasons.
• If one parent carries a dominant gene for TCS, each child they have has a 50 percent chance of developing the syndrome.

Treacher Collins Syndrome Risk Factors

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.

Complications of Treacher Collins Syndrome

TCS can cause several problems that affect the facial bones and surrounding tissues. These can include:

• Breathing problems
• Hearing loss
• Vision loss
• Problems with feeding, if also born with a cleft palate

Children with Treacher Collins who are not treated can have lifelong complications from any or all of these issues.

Symptoms of Treacher Collins Syndrome

TCS has a specific set of facial features that appear in most children with this disorder. These include:

• Eyes that slant downward
• Drooping eyelid
• Cheeks that are sunken, appearing flat
• A small jaw
• Ears that are low, abnormally shaped (called microtia), or even absent (anotia)
• A beak-like nose
• An abnormal bite
• A cleft palate, which is present in some cases

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.

Diagnosing Treacher Collins Syndrome

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 Treacher Collins Syndrome

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.

Surgical Treatments for Treacher Collins Syndrome 

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:

• Make sure a child can breathe safely
• Repair the cleft palate
• Improve the bone structure of the middle of the face

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:

• Tracheostomy
• G-tube placement
• Mandibular distraction (Jaw distraction)
• Jaw surgery (orthognathic surgery)
• Bony facial reconstruction
• Fat grafting
• Ear reconstruction

Non-Surgical Treatments for Treacher Collins Syndrome

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:

• Speech therapy
• Orthodontic braces to correct tooth alignment
• Psychological services for social adjustment in school
• Glasses
• Hearing aids

There are currently no other treatments for TCS. However, researchers are looking at new, nonsurgical treatments that take advantage of stem cells.

Treacher Collins: A Long-Term Prognosis

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.