Treacher Collins syndrome (TCS): clinical features
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Treacher Collins syndrome (TCS): clinical features. Downward slanting palpebral fissures, Hypoplastic facial bones. Fully referenced neurology checklist.
Facial features
- Downward slanting palpebral fissures
- Hypoplastic facial bones
- Coloboma (notching) of the lower eyelids
Auditory features
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Dental features
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Neurological features
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Congenital heart defects
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Other features
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Differential diagnoses
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Synonyms
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References
- Trainor PA, Dixon J, Dixon MJ. Treacher Collins syndrome: etiology, pathogenesis and prevention. Eur J Hum Genet 2009; 17:275-283.
- Vincent M, Geneviève D, Ostertag A, et al. Treacher Collins syndrome: a clinical and molecular study based on a large series of patients. Genet Med 2016; 18:49-56.
- Sakai D, Trainor PA. Treacher Collins syndrome: unmasking the role of Tcof1/treacle. Int J Biochem Cell Biol 2009; 41:1229-1232.
- Jones NC, Lynn ML, Gaudenz K, et al. Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function. Nat Med 2008; 14:125-133.
- Giabicani E, Lemale J, Dainese L, et al. Chronic intestinal pseudo-obstruction in a child with Treacher Collins syndrome. Arch Pediatr 2017; 24:1000-1004.
