Treacher collins syndrome
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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

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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


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