Diagnoses

Treacher Collins Syndrome

Treacher Collins syndrome, also termed Franceschetti syndrome (TCFS), results from a bilateral combination of clefts through the malar and lateral orbital bones that occurs in approximately one 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.

Treacher Collins syndrome presents with different severities. That is, sometimes the syndrome is so mild that it is hard to tell if a child even has the syndrome. Other times, it can be quite severe. The following is a list of traits that a child may, or may not, have:

• Narrow forehead
• Retrusive and small lower jaw and chin
• Downward slanting of the eyes
• Lower eyelid and eyelash defects
• Malformation of the ears
• Cleft palate
• 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.

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 reconstructive surgery; ear reconstruction, jaw reconstruction, soft tissue reconstruction of the cheeks and eyes, as well as address airway issues.

Treacher Collins syndrome has been shown to occur with the same frequency in boys and girls. Currently, no one knows what causes this condition. In over 60% of cases both the mother and father of a child born with Treacher Collins syndrome have normal genes, and the mother does “everything right” during her pregnancy. The process of bringing genes together from a mother and father is quite complicated. Once in awhile, a gene can be changed in the process. The gene for Treacher Collins syndrome has been identified and is sometimes called the “Treacle gene.” This gene is located on chromosome 5q. Treacher Collins syndrome can be inherited, and is transmitted in what geneticists call an “autosomal dominant pattern.” This means that if a child affected with Treacher Collins syndrome decides to have children when he or she is grown, there is a 50% chance of having a baby who also has Treacher Collins syndrome.