Treacher Collins Syndrome

Treacher Collins syndrome (TCS) is a genetic disease that alters the development of bones and other tissues in the face, and presents variable expressivity. At least three genes TCOF1, POLR1D, and POLR1C were recognized to be at the origin of this syndrome which may be inherited through either an autosomal dominant or autosomal recessive pattern. TCS changes can be divided into otological, ophthalmic and dental malformations. Dental abnormalities occur in 60% of cases and may appear as tooth agenesis, enamel opacities, widely-spaced teeth, skeletal open bite, distalization of the mandible, bird profile, ectopic eruption of maxillary first molars, improper positioning of the teeth and jaw, and hypoplasia of the mandible jaw. Receding chin and other changes in face structure can be corrected by plastic surgery. As multiple body systems are affected in TCS, long-term follow-up care and the collaboration of a multidisciplinary team care is necessary in order to achieve better physical and psychosocial performances.