Treacher Collins Syndrome
Treacher Collins syndrome is a rare birth defect that affects your baby's facial development before birth. The syndrome typically affects the size and shape of the cheek bones, jaws, ears, eyelids and muscles of the face. While children with this disorder have similar facial features, the severity of the deformities can vary. This condition is also known as mandibulofacial dysostosis and Franceschetti-Zwalen-Klein syndrome.
Some of the most common symptoms of Treacher Collins syndrome include deformities of the face such as downward sloping eyes, lack of normal cheekbones, ears that are small, malformed or missing, hearing impairment, small opening of the mouth, small lower jaw and steep downward angle of the upper and lower jaws, anterior open bite and cleft palate.
Treacher Collins syndrome not only affects your baby's physical appearance, but in most cases, also results in functional problems related to breathing, feeding and hearing. Hearing loss is caused by abnormalities in the structures of the outer and middle ear. While it is usually not severe enough to qualify as deafness, it can be bad enough to affect your child's ability to hear the human voice. The mouth, nose and throat of your child may also be smaller leading to difficulty eating and breathing. The severity of the facial deformities and functional problems vary widely from patient to patient. Careful attention to any hearing problems will help ensure your child develops at an age appropriate level and performs well at school.
Certain variants of Treacher Collins syndrome can also cause deformities to other parts of the body such as the hands and thumbs (Miller syndrome and Nager syndrome). Because of the abnormal facial features, Treacher Collins syndrome is sometimes diagnosed before your baby is born.
What causes Treacher Collins syndrome?
The syndrome is caused by a spontaneous gene mutation in approximately 60 percent of cases. In the remaining cases, it is caused by an inherited gene mutation by one of the parents. An adult with Treacher Collins syndrome has a 50 percent chance of passing the syndrome on to their children. The condition may vary in severity from generation to generation and from person to person. The syndrome occurs in about one of every 10,000 births.
The medical team at Children's Hospital & Medical Center will carefully develop a long-term plan to address all of your child's needs. The types of surgery and the timing of the surgeries will depend on the severity of your child's condition and the facial features that are affected.
Feeding and breathing
Because children with Treacher Collins syndrome can have a small jaw or cleft palate, they may experience eating or breathing problems. This may affect your child's ability to breast- and bottle-feed. Your doctor will monitor your child's eating and breathing functions closely during infancy and ensure that he or she is gaining weight appropriately. If eating is a problem, a dietitian will work with you to develop a diet plan for your child.
A variety of options are available to manage or rectify the problem should your child experience breathing problems. These include: positioning devices, tubes and jaw advancement procedures. In rare cases, a breathing tube may be placed in the windpipe in a procedure called a tracheostomy.
A hearing screening will be performed within a few days of birth. Additional testing will be performed if problems are found. An audiologist will continue to monitor your child's hearing throughout his or her childhood and will perform tests appropriate for your child. Our ear, nose and throat specialist will also educate you and your child about how to manage his or her hearing problems, how to prevent further hearing loss and determine if hearing aids are necessary.
If the shape of your child's ears are bothersome, you may choose to have your child undergo surgery to correct the deformities. Your child's ears will have reached their adult size by the age of 6 to 8 years old. Our team utilizes all currently available techniques of ear reconstruction including autologous (patient's own tissue), alloplastic (synthetic implant), and prosthetic (external removable implant).
Surgical repair of a cleft palate can generally begin once your child reaches one year. Your surgeon may also recommend lower eyelid surgery to improve lid function and appearance if problems exist concerning eye exposure or infection.
Correcting flat or missing cheekbones can usually be reconstructed with bone grafts. This surgery is generally performed near 10 years of age when most of the mid facial growth is complete.
Nasal surgery may be required early on if breathing problems are serious. Nasal surgery may also be recommended after you child's nasal passages finish growing to achieve improved function and/or appearance.
Jaw and teeth
If your child has many craniofacial disorders, good oral hygiene is very important. A dentist and/or orthodontist will evaluate your child's dental health, spacing of teeth as well as the fit of the upper and lower jaws. Your child may need braces or a dental appliance to enhance dental appearance and function.
If your child has a small jawbone, surgery to correct the problem may be required. In most cases, your doctor will recommend repairing the jawbone with a technique called distraction osteogenesis to lengthen the jawbone. This technique does not need a bone graft, but instead uses a small metal device to slowly lengthen the bone. In severe cases, a bone graft may be required.
Treacher Collins Syndrome can also cause physical differences in the back of your child's mouth that can cause speech problems called velopharyngeal insufficiency. A speech pathologist may be recommended to address your child's speech-related issues.