Treacher Collins Syndrome
Treacher Collins Syndrome is a birth defect that has several characteristic features including underdeveloped cheek and jaw bones, misshapen or missing ears and down slanting eyes. It can vary in severity from a very subtle presentation that may go unrecognized to the more severe cases that are noticed immediately and may present with related problems.
Treacher Collins Syndrome is a genetic condition occurring in approximately 1 of 10,000 births. It may occur as a spontaneous mutation out of genetically normal parents or it may be inherited from one of the parents. A spontaneous mutation occurs very early in development and presently there is no link between a mother's activities and the condition. If one parent is affected there is a 50% chance of passing it on to the offspring.
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Evaluation and Treatment
As in all craniofacial deformities, treatment requires a multidisciplinary team working closely together with the family to attain the best functional and aesthetic result possible. In the newborn/infancy period, treatment is aimed at preventing problems with breathing, feeding, and hearing.
Because the jaw and nasal passages are small, children with Treacher Collins Syndrome are at risk of developing breathing problems. It is important that they are evaluated by a specialist if there are any signs of breathing difficulty, feeding problems and/or poor weight gain. Some infants require a tracheostomy to overcome these problems. In addition, the small jaw and possible presence of a cleft palate can contribute to feeding problems. If a child is using all their energy just to breathe, they will not be able to feed effectively. This is another important reason to carefully evaluate the infant's airway status.
If a cleft palate is present, the techniques described in the feeding section should be used.
Ear deformities range from prominent ears to misshapen ears to complete absence of the external ear. Approximately 40% of children will have hearing loss in both ears. If needed, a hearing aid should be fitted and put in place as soon as possible. The sounds that babies hear during the first year play a very important role in speech development. Involvement in an infant stimulation program will also help speech and language development. Children affected with Treacher Collins Syndrome may appear to have lesser intelligence when, in fact, they are as intelligent as the other children in their age group if they can hear properly.
Children with Treacher Collins Syndrome have sad-looking faces due to the drooping appearance of the lower eyelids which is caused by the lack of bony support around the lower portion of the orbit. Also, the eyelashes may be missing or growing irregularly. An ophthalmologist should evaluate the child for possible dry eyes, as this condition could lead to infections.
The timing to correct each of these problems may vary depending on the severity of the presenting conditions and on the philosophy of the Craniofacial team.
If a cleft palate is present, closure of the soft palate may be addressed as early as 3 months of age (if breathing and feeding problems are not an issue) or delayed until 6 to 10 months. The hard palate may not be repaired until 18 months of age so as to minimize growth disturbance to the teeth and maxilla.
Around 3 years of age, the weak cheeks and sagging lower eyelids may be augmented and reconstructed. The child's own bone may be used for this, along with naturally-occurring bone substitutes. Bone is usually taken from the skull to build the cheekbones. If needed, the mandible (jaw) may be lengthened through distraction osteogenesis or through a combination of surgical osteotomies with bone/cartilage grafts. This is usually done when the child is 4 to 5 years old or sooner if needed to prevent or facilitate removal of a tracheostomy. External ear deformities are addressed between 5 to 7 years of age, although hearing aids, as mentioned above, must be placed within the first year if needed.
Additional procedures may be necessary as the child grows and reaches adolescence.