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Treacher Collins Syndrome. Kimberly Williams. Treacher Collins Syndrome. Treacher Collins syndrome is a hereditary disease that leads to problems with the structure of the face. It is caused by a defective protein called treacle. It is autosomal dominant
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Treacher Collins Syndrome Kimberly Williams
Treacher Collins Syndrome • Treacher Collins syndrome is a hereditary disease that leads to problems with the structure of the face. • It is caused by a defective protein called treacle. • It is autosomal dominant • TCOFL gene mutations are the main cause for this syndrome • The treacle gene is found on chromosome 5
Treacher Collins Syndrome • This condition affects an estimated one in every fifty thousand people
Treacher Collins Syndrome Names • Treacher Collins–Franceschetti syndrome • Zygoauromandibular dysplasia • Mandibulofacialdysostosis (MFD1)
Prognosis • Children that are born with this typically grow to be normal adults with normal intelligence
Testing • There are no genetic tests availabe
Diagnosis This condition is usually seen at birth. Genetic counseling can help families understand the condition and how to care for the patient.
Symptoms • Outer part of the ear abnormal or completely missing • Hearing loss • Small jaw (Micrognathia) • Very large mouth • Defect in the lower lid (Coloboma) • Scalp hair that reaches to the cheecks • Cleft Palate
Treatment • Plastic surgery is usually a must to fix the receding chin and other facial abnormalities • Hearing loss is treated to ensure better performance in school • Corrective surgery of the underdeveloped jaw • Speech therapy for eating and speech problems
Frequency • This syndrome is equally frequent in boys and girls.
Citations • New York Times. (2011, september 4). Treacher-collins syndrome. Retrieved from http://health.nytimes.com/health/guides/disease/treacher-collins-syndrome/overview.html • Dixon, J. (2012, January 23). Genetics home reference. Retrieved from http://ghr.nlm.nih.gov/condition/treacher-collins-syndrome • Fearon , J. (n.d.). Retrieved from http://www.thecraniofacialcenter.org/treachercollins.html