It is a hereditary disorder that causes large deformity on the face of the developing child. In medical terms this disease is called as mandibulo facial dysostosis affecting one in every 40,000-70,000 child. It is marked by strange facial structure with obvious abnormalities present symmetrically and bilaterally. It is named after famous British ophthalmologist Treacher Collins who was first to describe the characteristic traits of this disorder. This disorder does not spare person based on their race, sex or religion.
Features of TCS :
The disorder of Treacher Collins syndrome TCS can be easily diagnosed during birth. Technology has improved very much to detect this illness even before birth using ultrasonography.
Face :
The face of the person is marked by abnormalities running both symmetrically and bilaterally. The nose appears large in size due to hypoplastic supra orbital rims. The cheek bones are drawn inward, the pinnae of the ears are abnormal and different in each child with varying sizes, and the mouth is turned downward direction.
Skull :
A radiographic image of the child can show the deformity in the malar bones, frontal bones which are hypoplastic. The paranasal cavity and mandibular condyles are also hypoplastic. The orbits of lateral margins are either hyperteloric or defective. The cranial nerve is kyphotic and varied.
Eyes :
The fissures of the eyes are very tiny and the eyes would be sloping downward
Ears :
The outer layer of the ear (pinnae) is highly deformed. It can be crippled or folded in some angle or misplaced totally.
Nose :
The nose would appear too big due to shortage of molar development and development of hypoplastic ridges.
Mouth :
Very often the child will have cleft palate and sometimes the parotid glands are not found. Obviously pharyngeal hypoplasia is found. The mandibular angle will be obtuse and the teeth look distorted. The child will certainly have difficulty in swallowing and feeding due to poor development of musculoskeletal organs and also due to cleft palate. He may have hearing problems partially or fully due to lack of normal development of auditory canal. His vision is also affected due to lack of lateral orbit and ocular muscles.