clinical features
Last reviewed 01/2018
In Treacher-Collins syndrome the facial appearance is characterised by:
- palpebral fissures that slope downward toward the outer canthi
- colobomas of the lower eyelids
- sunken cheekbones
- fistulas opening between the ears and the angles of the mouth
- atypical hair growth extending towards the cheeks
- a large mouth and receding chin.
Often there are also facial clefts, abnormalities of the ears (microtia) and deafness associated with this syndrome. There may be associated radial dysplasia.