Treacher Collins syndrome results from a bilateral combination of clefts through the malar and lateral orbital bones that occurs in approximately 1 in 25,000 births.
Known as Tessier clefts 6, 7 and 8, these result in a flattened cheek prominence and downward slanting deficient lower eyelids. The mandible and ears are also underdeveloped. The primary functional problems associated with Treacher Collins syndrome are related to airway, occlusion, hearing and abnormalities of the eyelids. Nager syndrome has the features of Treacher Collins syndrome but it is also associated with defects of the limbs. Characteristics of Treacher Collins and Nager syndromes include:
- Hypoplasia of the cheek bones
- Retrusive lower jaw and chin
- Downward slanting of the eyes
- Lower eyelid and eyelash defects
- Malformation of the ears
- Small or absent thumb (Nager syndrome)
These children require evaluation by a craniofacial team with experienced geneticists, surgeons, dentists, speech and hearing specialists, and psychosocial therapists. When breathing difficulties are present, airway management is the highest priority. Subsequent treatments include correction of orbital and jaw problems, reconstruction of eyelids and ears, speech and hearing correction, and orthodontics. The Craniofacial Services team at Rady Children’s consists of experienced specialists dedicated to the optimal treatment of children with Treacher Collins and Nager syndromes.
Evaluation by a skilled geneticist is required due to the frequency of associated abnormalities of the vertebrae, heart and urinary system. Treatment planning requires a craniofacial team to sequence the ear reconstruction, jaw reconstruction and soft tissue reconstruction. The pediatric craniofacial plastic surgeons at Rady Children’s have a large experience with these reconstructive procedures.