Treacher Collins Syndrome

Abstract

Treacher Collins syndrome is a genetic disorder resulting in congenital craniofacial malformation. Patients typically present with downslanting palpebral fissures, lower eyelid colobomas, microtia, and malar and mandibular hypoplasia. This autosomal dominant disorder has a variable degree of phenotypic expression, and patients have no associated developmental delay or neurologic disease. Care for these patients requires a multidisciplinary team from birth through adulthood. Proper planning, counseling and surgical techniques are essential for optimizing patient outcomes. Here the authors review the features, genetics, and treatment of Treacher Collins syndrome.

The characteristics of craniofacial and cervicovertebral morphology in different genetic syndromes: A literature review and three case reports

“…It is recommended that orthodontic and dental corrections should be undertaken once definitive skeletal repair is finalized. 33,34,44,49,82 Clinical examination allows observing many craniofacial changes of these syndromes, but many abnormalities of the cervical spine do not manifest themselves symptomatically until adolescence or young adulthood. The cervical spine anomalies can be divided into syndromic and nonsyndromic malformations.…”

“…30 Treacher Collins syndrome (TCS), otherwise known as mandibulofacial dysostosis, is a rare autosomal dominant genetic disorder of the craniofacial and cervicovertebral morphogenesis with a high degree of penetrance and variable phenotypic expression. [31][32][33][34] Affecting the proper formation of the first and second branchial arches, this syndrome occurs during the fifth to eighth weeks of embryonic development with an incidence of 1 in 50,000 live births without gender predilection. 2,[32][33][34] TCS patients have normal intelligence with no associated developmental delay or neurologic disease.…”

“…[31][32][33][34] Affecting the proper formation of the first and second branchial arches, this syndrome occurs during the fifth to eighth weeks of embryonic development with an incidence of 1 in 50,000 live births without gender predilection. 2,[32][33][34] TCS patients have normal intelligence with no associated developmental delay or neurologic disease. However, as a result of distorted physical appearance, patients often face social challenges and stigma throughout life.…”

“…The most severe forms of TCS may have significantly deficient proximal mandible or even lacking the ramus/condyle unit altogether. 33,34,[39][40][41] Hypoplasia of the facial bones may result in dental malocclusion. The teeth may be widely spaced, malpositioned or reduced in number.…”

Genetic Factors in Selected Complex Congenital Malformations with Cleft Defect

“…TCS also belongs to the Tessier classification of rare facial clefts as cleft number 6-7-8 [52]. The syndrome occurs with a frequency of 1 : 50000, and is connected to the development of the structures derived from the first and second pharyngeal arches [53]. Deformations occur on both sides, but bilateral facial symmetry is not present.…”