Treacher Collins Syndrome, or mandibulofacial dysostosis, is an inherited disorder (autosomal dominant gene).

Individuals with the syndrome usually show evidence of downward slope or slant of the eye aperture (antimongoloid), absent eyelashes in the inner aspect of the lower eyelids, deficiency of the lower eyelids (colobomas), deficiency of the underlying orbital and zygomatic bones, varying degrees of mandibular deficiency, abnormalities of the external ears and, unusual sideburns.

Breathing is evaluated immediately, as well as adequate oral intake. Adequate protection of the eyes is also of concern. In some cases, the lower jaw deficiency is so severe that a tracheostomy has to be performed. In some cases, Distraction Osteogenesis (bone lengthening) can avoid the need for tracheostomy. In some patients, a gastrostomy needs to be placed to provide adequate nutrition for the baby.

At all ages hearing has to be monitored and some children require care by otologists (hearing specialists). Hearing devices may be recommended.

In general, treatment recommendations are constantly changing over time, and will also vary from Center to Center. It is important to discuss these issues with your doctor, and make sure that all your questions get answered.

After a child is born with Treacher Collins syndrome, the child should undergo a hearing screening as soon as possible. Children born with absent ears typically have at least a 40% hearing loss. For these children, it is very important for them to be evaluated early for a bone conduction hearing aid. The early sounds that babies hear are critical for normal speech development.

It is also important to evaluate the palate and its function. Some children who do not have an obvious cleft palate cleft may have a submucous cleft. In a submucous cleft palate, the muscles in the soft palate are oriented incorrectly. These children need to be closely followed by a speech pathologist, and may go on to require surgery to help them to speak normally.

t is also important to make sure that any child with Treacher Collins does not have sleep apnea. If your child is a noisy breather at night, it is a good idea to get a sleep study to ensure your child is getting enough oxygen at night to continue to develop normally. For some children, it is possible to use a special orthodontic device (a "Herbst appliance") to help prevent sleep apnea. Rarely, children may need to use a special mask (called CPAP or BiPAP units), in order to help the child get enough oxygen while sleeping. If these do not work, surgery may be the only other option to ensure your child is getting enough oxygen at night.

The downward tilt of the eyes is corrected with an operation called a "lateral canthopexy". The cheekbones are rebuilt with the child's own bone. The bone to rebuild this area is usually taken from the skull because it is less likely to disappear after the operation (which happens more commonly with rib, or hip bone). There is also almost no pain associated with taking bone from the skull. Soft tissue augmentation of the cheek, nose reshaping, lateral canthopexy (lifting the outside corner of the eyes, are generally done in a single operation.

When craniofacial growth is completeand jaw surgery is finished artificial cheekbones may be considered. If these implants are placed too young (while the child is still growing) they will sink too deeply into the underlying bone. If any upper jaw surgery is performed after the cheek implants are placed, they need to be removed to prevent a serious infection.

Braces and jaw surgery are typically needed in children with Treacher Collins syndrome. The front teeth may not be able to close (an anterior open bite). This occurs because the back teeth (molars) contact prematurely. In general, it can only be treated surgically, by operating on the upper and lower jaws.