Treacher Collins syndrome (TCS), the most common type of mandibulofacial dysostosis, is an autosomal dominant disorder of craniofacial development. The estimated incidence in the general population is 1 in 50,000 live births. This syndrome arise from the first and second branchial arches during early embryogenesis. While in 40% of TCS cases previous family history can be demonstrated, the remaining 60% possibly arise from de novo mutations of TCOF1 gene, at chromosome 5q32-q33.1. The TCOF1 gene contains 26 exons and encodes a 1411 aminoacid protein named treacle. About 116 different mutations were described in literature. Most of these mutations are deletions. Clinical features of TCS included: antimongoloid palpebral fissures, coloboma of lower eyelids, lower eye lashes, atypical hair growth in form of tongue-shaped processes of the hair outline extending toward the cheeks, high of cleft palate, macrostomia, hypoplasia of the malar bones or mandible, malformation of external era, otitis media, rare internal ear. The patients need multiple operations, conducted ordinarily in the following order: reconstruction craniofacial, auricular reconstruction, surgical correction of antimongoloid palpebral fissures, cleft palate repair, repair of eyelid. Apart from a surgical treatment, the patients require a combined multidisciplinary approach with participation of paediatricians, laryngologists, speech therapists and orthodontists. Since, the spectrum and degree of deformations related to TCS are extensive, a plan of management treatment needs to be tailored to the patients specific problems. In this report, we described 6 families with TSC. The authors analyse gender, degree of kinship patients and change a developmental disorders extensive in the following generations.

Treacher Collins syndrome, mandibulofacial dysostosis, familial occurrence, congenital malformations, craniofacial