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Treacher Collins Syndrome

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

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  1. Treacher Collins Syndrome Kimberly Williams

  2. 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

  3. Treacher Collins Syndrome • This condition affects an estimated one in every fifty thousand people

  4. Treacher Collins Syndrome Names • Treacher Collins–Franceschetti syndrome • Zygoauromandibular dysplasia • Mandibulofacialdysostosis (MFD1)

  5. Prognosis • Children that are born with this typically grow to be normal adults with normal intelligence

  6. Testing • There are no genetic tests availabe

  7. Diagnosis This condition is usually seen at birth. Genetic counseling can help families understand the condition and how to care for the patient.

  8. 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

  9. 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

  10. Frequency • This syndrome is equally frequent in boys and girls.

  11. 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

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