What is Treacher Collins Syndrome?
Named after an English surgeon and ophthalmologist, Edward Treacher Collin, Treacher Collins syndrome, otherwise known as mandibulofacial dysostosis is an uncommon autosomal dominant hereditary condition recognized by its characteristic craniofacial abnormalities such as absence of cheekbones. It occurs in 1 of every 10,000 livebirths.
The particular gene presently acknowledged to be related with Treacher Collins syndrome in 95% of the reported cases is COF1. Genetic alterations inactivate the other copy of the gene leaving only one functional copy thus leading to haploinsufficiency of the Treacle protein. The haploinsufficiency causes reduction of neural crest cells which is important for the development of cranioappearance and physical growth.
The clinical presentations vary from person to person; some are just slightly affected that they remain undiagnosed while others have severe facial abnormalities and critical airway compromise. It is characterized by facial bone hypoplasia, ear anomalies, eye problems, cleft palate, dental irregularities, airway problems and brachycephaly.
Treating mandibulofacial dysostosis may need to be extensive and may necessitate the combination of multidisciplinary approaches directed on symptom management. In infants, immediate attention to airway and swallowing insufficiencies is significant. If airway manifestations are severe, a tracheostomy is done. If not, proper body positioning may be sufficient. As the child grows, additional procedures are necessary.
Pictures of Treacher Collins Syndrome
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