What is Treacher Collins Syndrome
Treacher Collins syndrome is a rare genetic condition that affects one out of 50,000 individuals. Those with Treacher Collins have underdeveloped or improperly developed facial bones. The development of the cheekbones, chin, jaw and ears are most commonly affected. Individuals with Treacher Collins often have small jaws, chins and ears and their eyes are slanted downward. Sometimes a cleft palate may also be present. It is common for people with Treacher Collins to have a small amount of eyelashes as well as notch in their lower eyelids. In extreme cases, patients may have unusually small ears or no ears at all.
The severity of the condition varies greatly. Individuals can have hardly noticeable facial deformities, vision or hearing problems while patients with severe cases can experience a loss of hearing, vision loss and life-threatening breathing issues.
Most individuals with Treacher Collins Syndrome have normal intelligence and can live normal, long lives.
Treating Treacher Collins Syndrome
A series of corrective, facial reconstructive surgeries may be recommended depending on the severity of the symptoms and how much those symptoms impact the child’s life and well-being.
It isn’t uncommon for children with Treacher Collins Syndrome to need multiple facial reconstruction surgeries. These surgeries will likely not be done at the same time. Some surgeries including those for correcting cleft palates, are recommended first while the child is one or two years of age.
Surgeries for rebuilding the ear canal is recommended before the child turns 16. Other surgeries such as those to reconstruct the lower eyelids, rebuild the eye sockets, the nose and the cheekbones as well as repositioning the jaw will likely be recommended for children between the ages of 5 to 16.
Common Treacher Collins Syndrome treatment surgeries include:
- Reconstruction of lower eyelids
- Closure of cleft palate
- Repair absent facial bones including cheekbone and lower eye socket
- Ear reconstruction
- Orthognathic surgery to re-position of the lower jaw
Every Treacher Collins Syndrome case is different, so the medical professionals at the Cleft & Craniofacial Institute of Utah will diagnose and treat each patient on an individual basis. We will make treatment recommendations based on your child’s specific case so he or she can have the best quality of life.
Untreated Treacher Collins Syndrome
In the majority of cases, the adverse complications from Treacher Collins Syndrome can be minimized or eliminated with early, surgical treatment.
There is currently no cure for Treacher Collins Syndrome, but treatment plays a vital role in preventing further, possible, life-threatening complications in the future.
As mentioned earlier, there are different levels of severity of Treacher Collins Syndrome symptoms. If left untreated, the following complications can occur:
- Feeding and eating problems from cleft palate
- Breathing problems, including sleep apnea
- Learning problems from hearing loss
- Hearing problems and hearing loss
- Vision problems, including chronic dry eye
- Speech problems
Patients with mild facial deformities may also suffer from psychological and self-esteem issues.
Even if a child with Treacher Collins Syndrome isn’t at risk of serious complications, corrective, reconstructive surgery can help improve the child’s quality of life.
Contact the Cleft & Craniofacial Institute of Utah today to set up a consultation with our doctor to learn about your child’s Treacher Collins Syndrome treatment options.
Cleft lips and palates are one of the most common birth anomalies that affect about 1/600 newborn babies in the United States and around 1/500 in the state of Utah. Clefts can range from quite mild to fairly severe. Most of the time they are an isolated anomaly, but are also associated with a number of gentic syndromes. Depending on what structures are involved dictates the complexity of the treatment plan. Our team works together with you to make a customized plan for your baby. Even the most severe of cases should be able to be treated with only a few surgical interventions by a well coordinated and efficient team.
The skull is made up of several different bones that are joined together by growth plates called "sutures." Craniosynostosis is a condition where one or more of these sutures fuse prematurely causing an abnormal head shape, decreased cranial volume, and the possiblilty of raised intracranial pressure. The treatment of craniosynostosis is surgical and the goals of surgery are to increase the volume of the skul and to correct the abnormal appearance of the head shape. There are two methods of surgical correction: open vault reconstruction and strip craniectomy. Dr. Griner's extensive training allows him to perform these complex procedures without the need for blood transfusions and spending only 1-2 nights in the hospital.
There are many syndromes that can affect the shape of the head and face and include Aperts, Crouzon, Pfieffer, Treacher Collins, and many others. Most of these syndromes include many other complex anomalies and need to be treated in a coordinated approach in order to reduce the number of operations the child will need. These syndromes are rare and require specialists that are very familiar with the intricacies of each syndrome. Dr. Griner's unique training provided him with extensive experience with craniofacial syndromes and makes him the premier choice to guide the management of your child's needs in Utah.
Ear deformities range from mild changes in shape to the complete abscence of an ear and deafness. Mild deformities can be treated in the first few weeks of life while others will require reconstructive surgery and hearing aids. No matter the severity, our specialists work together to provide normal appearance and improved hearing.
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