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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

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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