Posted on May 13th, 2007
Also called mandibulofacial dysostosis, Treacher Collins syndrome (TCS) is an ‘autosomal dominant disorder… that results from loss-of-function mutations in the gene TCOF’.1 It affects the size and shape of the ears, cheekbones and jaw. The following characteristics will display to varying degrees: downslanting eyes, notched lower eyelids, underdeveloped cheek and jaw bones, and underdeveloped, malformed and/or prominent ears. Cleft palate often occurs with TCS. Breathing problems will also exist which may necessitate the insertion of a tracheostomy tube to assist breathing.
Approximately 40% of children will have hearing loss in both ears. TCS can vary in severity from something that may go unnoticed to the more severe case displaying many of the symptoms. As the child grows, most of associated problems are alleviated. Closure of the soft palate will occur at around 3 months, the cheeks and eyelids may be addressed at about 3 years of age, and ear deformities are addressed at about 5-7 years of age.
TCS occurs in approximately 1 of every 10,000 births. In about 40% of cases one parent has what is believed to be the affected gene. There is a 50% chance of the children of an affected parent having TCS.
- Dixon, J. et al. Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder, treacher collins syndrome. Human Molecular Genetics 12 Jun 2000, 9(10):1473-80 [↩]
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