Treacher Collins Syndrome

Description of Treacher Collins Syndrome

Treacher Collins Syndrome or Mandibulofacial synostosis effects the size and shape of the ears, cheek bones, and upper and lower jaws. This condition is the result of an autosomal dominant gene.

Characteristics of Treacher Collins Syndrome

The anomalies most often associated with this Treacher Collins Syndrome include:

Facial cleft (Tessier 6-7-8 cleft)
Hypoplasia of the cheeks and mandible bilaterally
Colobomas (or congenital scar) of the eyelids
Downward-sloping palpebral fissures
Poorly developed supraorbital rims and cheeks
Receding chin
Malformation of the ear

Although the severity of Treacher Collins Syndrome can vary, the problems faced by a child with Treacher Collins Syndrome can be quite complicated and require the attention of a professional with experience with these types of patients. In the early years, patients often have difficulty maintaining an open airway and may need some assistance with obtaining adequate nutrition. In most cases as the patient grows and matures structurally, these problems are alleviated. Also,the malformation of the upper and lower jaws most often results in a malocclusion of the bite. A Treacher Collins Syndrome patient can also have impaired hearing depending upon the extent to which the deformity effects the formation of the ears. There may be a cleft of the palate as well.

Causes of Treacher Collins Syndrome

Treacher Collins Syndrome is caused by autosomal dominant inheritance of the "Treachle gene" which is located on chromosome 5. The children of a parent with Treacher Collins Syndrome have a 50% risk of having Treacher Collins Syndrome. If the parents of the affected child are not effected by Treacher Collins Syndrome, the chances of a sibling having Treacher Collins Syndrome is minimal.

Expectations and Treatment of Treacher Collins Syndrome

Children with Treacher Collins Syndrome may have hypernasal resonance due to the presence of the cleft palate. Although most patients with Treacher Collins Syndrome exhibit normal intelligence, some patients with Treacher Collins Syndrome can have a decreased intellectual capacity. They may experience difficulty breathing and eating which they typically outgrow.

Treacher Collins Syndrome patients generally require extensive care in the first few years of life. They may require the placement of a tracheostomy tube to assist them with breathing. A gastrostomy tube is used in the more severe cases to help the patient obtain adequate nutrition and energy for growth.

Typically, Treacher Collins Syndrome patients outgrow these problems and these tools are removed. Due to the severe underdevelopment of their upper and lower jaws, Treacher Collins Syndrome patients usually require both mandibular and maxillary surgery to correct these deficits. The mandible can be corrected either by applying a rib graft to the mandible or through a technique known as distraction osteogenesis. The technique which will provide the best result will be decided on a cases by case basis by the craniofacial surgeon.

With treatment of the jaws, it is necessary to obtain good orthodontic care to correct the malocclusion the deformity will produce. Nasal surgery may also be required to compensate for the deficient upper and lower jaws. In cases where colobomas exist, the Treacher Collins Syndrome children usually need eyelid reconstruction by a specialized pediatric ophthalmologist.

Case Studies

Treacher Collins
Preoperative frontal view of 16-year-old patient with Treacher Collins Syndrome. No previous correction had been performed. Postoperative lateral view 1 year after orthognathic surgery. Pre and postoperative lateral views of same patient.

Treacher Collins Syndrome with Microtia

Treacher Collins Syndrome with Jaw Deformity
Preoperative view of 11-year-old patient with Treacher Collins Syndrome. Postoperative lateral view 4 years after Lefort II Maxillary advancement and mandibular advancement.

Treacher Collins Syndrome with External Distraction Device
Preoperative frontal view shows patient with Treacher Collins Syndrome. Postoperative frontal view of same patient after completion of the osteotomies with the device in place. Distraction begins 5-7 days after insertion of the device at a rate of 1mm per day. Preoperative lateral view of patient with tracheostomy showing retrognathic microgenia. Postoperative lateral view showing vertical and horizontal lengthening. After 5 weeks of distraction, the patient was able ultimately to discard the tracheostomy.