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

Treacher Collins Syndrome

Kimberly Williams


Treacher collins syndrome1

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 syndrome2

Treacher Collins Syndrome

  • This condition affects an estimated one in every fifty thousand people


Treacher collins syndrome names

Treacher Collins Syndrome Names

  • Treacher Collins–Franceschetti syndrome

  • Zygoauromandibular dysplasia

  • Mandibulofacialdysostosis (MFD1)


Prognosis

Prognosis

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


Testing

Testing

  • There are no genetic tests availabe


Diagnosis

Diagnosis

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


Symptoms

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

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

Frequency

  • This syndrome is equally frequent in boys and girls.


Citations

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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