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Craniofacial Syndrome: Treacher Collins

Treacher Collins syndrome results from abnormal formation of the cheek and lower jaw bones. Treacher Collins syndrome occurs with a frequency of one in 10,000 live births.

Individuals with this syndrome are typically characterized by the following differences:
• underdeveloped, flat or absent cheekbones
• downward slanting eyes and notched lower eyelids, sometimes missing eyelashes
• small, often slanted, lower jaw with an open bite
• cleft palate
• low-set, underdeveloped, malformed or missing ears
• scalp hair overgrowth into the facial area

Additional characteristics that may be present include:
• compromised sound conduction and hearing loss due to abnormal formation of the inner ear
• nasal airway obstruction
• facial clefts

Treatment may include bone grafting to correct the cheek bones, jaw surgery, eye surgery, ear reconstruction, staged orthodontics, palatal closure, nasal reconstruction, speech therapy and hearing aids.

Treacher Collins syndrome was named for British ophthalmologist, Edward Treacher Collins (1862-1932). In 1900, he described two children with small cheekbones and notches in their lower eyelids.

Treacher Collins syndrome is also known as mandibulofacial dysostosis.

What Happened?

Treacher Collins is the result of a mutation in a gene known at TCOF1 which plays a key role in head and facial development. Chromosome 5 contains the TCOF1 gene.

Treacher Collins syndrome is caused by a gene alteration, which is sporadic or is inherited. There is no connection between anything the mother did (or didn’t do) to cause her baby to have Treacher Collins syndrome. If neither parent has Treacher Collins syndrome, their chances of having another child with Treacher Collins is minimal. If a parent has Treacher Collins syndrome, the chances that one or all of his/her children will have it are approximately 50 percent.

What to Do?

When a child is born with a craniofacial issue, we evaluate many factors in order to develop the most effective treatment plan. We study how the child’s underlying structures and functions are affected, including: the brain and facial skeleton, the central nervous system, the senses and parts of the spine (cervical vertebrae). In patients whose facial skeleton is affected, we carefully identify resulting changes in the soft tissues of the face, mouth and top of throat (pharynx). It’s imperative to quickly determine how their condition is affecting normal, critical functions such as breathing, swallowing and speaking, so that we can promptly begin appropriate treatment.

In most syndromes, the abnormal growth patterns continue throughout the growing years because they were programmed into the body while the embryo was forming. In order to correct and repair the child’s areas of concern, we evaluate the anatomical and functional problems and carry the treatment plan out in stages. At each new level of maturity, we’ll take advantage of the natural windows of opportunity for reconstruction and other surgical procedures.

We must time each intervention carefully, because when we change or correct part of a child’s body, that surgery indirectly affects the body’s growth and development “messages.” Our broad range of experience allows us to not only identify the most appropriate timing for repairs but to also respond to unpredictable changes as we go.

Essential factors will lead to the best outcome: For our part, accurate diagnosis and a customized, expertly carried-out treatment plan are primary concerns. This applies to reconstructive surgery, as well as aesthetic surgery, to create the very best facial and corporal appearance. For your part, as the parent/family, the outcome depends on your commitment to play the key support role throughout the child’s various surgeries, physical changes, social adaptations, academic development and everyday life skills.

In all syndrome conditions, our treatment goals fall into similar categories – to give the child’s brain and all sensory organs room to grow and develop, and to make it as easy as possible for the child to breathe, eat, sleep, communicate and become as independent as possible.