Treacher Collins Syndrome - Literature Review

Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development ivolving: malar hypoplasia, micrognathia, microtia, downward slanting palpebral fissures, lower eyelid coloboma, partial absence of eyelid cilia, conductive hearing loss, and cleft palate, nasal deformity, blind fistulas between the ears and the angles of the mouth, processes of hair extend into the preauricular region. Also known as mandibulofacial dysostosis and Franceschetti-Zwahlen- Klein syndrome, TCS occurs with an estimated incidence of 1/50 000 live births. TCS is caused by mutations in the TCOF1 gene, which encodes the phosphoprotein treacle. This protein plays a key role in rybosomal biogenesis. Children with TCS should be under multidisciplinary care since birthday. Treatment is complicated and requires comprehensive, well coordinated and integrated treatment plan, incorporating plastic and craniofacial surgeons, orthodontists and otolaryngologists. All patients need multiple operations, which consist of: cleft palate repair, zygomatic bone reconstruction, correction of malocclusion, auricular reconstruction, repair of palpebral coloboma, rhinoplasty. Coexisting malloclusions are typical signs for ortodontic surgery treatment