Treacher Collins Syndrome - Management

Management

The treatment of TCS should be tailored to the specific symptoms and needs of each individual.

The treatment of individuals affected by TCS needs a multidisciplinary approach and may involve the intervention of different professionals. The primary concerns in individuals with TCS are breathing and feeding problems, which are a consequence of the hypoplasia of the mandibula and the obstruction of the hypopharynx by the tongue. Sometimes even a tracheostomy is necessary to maintain an adequate airway. Also a gastrostomy could be necessary to assure an adequate caloric intake while protecting the airway. Surgery to restore a normal structure of the face is normally performed at defined ages, depending on the development state.

An overview of the present guidelines:

• If there is a cleft palate, the repair normally takes place at the age of 9–12 months. Before surgery, it is necessary to perform a polysomnography with a palatal plate in place, this may predict the postoperative situation and gives insight on the chance of the presence of OSAS after the operation.
• The hearing loss is treated by bone conduction amplification, speech therapy and educational intervention to avoid language/speech problems. The bone-anchored hearing aid (Baha) is an alternative for individuals with ear anomalies
• The zygomatic and orbital reconstruction is performed when the cranio-orbitozygomatic bone is completely developed. Usually at the age of 5–7 years. In children an autologous bone graft is mostly used. In combination with this transplantation, lipofilling can be used in the periorbital area to get an optimal result of the reconstruction.
• The reconstruction of the lower eyelid Coloboma includes the use of a myocutaneous flap, which is elevated and in this manner closes the eyelid defect.
• The external ear reconstruction is usually done when the individual is at least 8 years old. Sometimes also the external auditory canal or middle ear can be treated.
• The optimal age for the maxillomandibular reconstruction is still a major point of discussion, at present, this classification is generally used:

1. Type I (mild) and Type IIa (moderate) 13–16 years
2. Type IIb (moderate to severe malformation) at skeletal maturity
3. Type III (severe) 6–10 years

• When the teeth are cutting, the teeth should be under supervision of an orthodontist to make sure that there are no abnormalities. If abnormalities like dislocation or an overgrowth of teeth are seen, appropriate action can be undertaken as soon as possible.
• Orthognatic treatments usually take place after the age of 16 years; at this point all teeth are cut and the jaw and dentures are mature. Whenever OSAS is detected, the level of obstruction is determined through endoscopy of the upper airways. Mandibular advancement can be an effective way to improve both breathing and æsthetics, while a chinplasty only restores the profile.
• If a nose reconstruction is necessary it is usually performed after the orthognatic surgery and after the age of 18 years.
• The contour of the facial soft tissues generally requires correction at a later age, because of the facial skeletal maturity. The use of microsurgical methods, like the free flap transfer, has improved the correction of facial soft tissue contours. Another technique to improve the facial soft tissue contours is lipofilling. For instance, lipofilling is used to reconstruct the eyelids.