Treacher Collins syndrome

"Lancaster's" and "Lancaster Disease" redirect here. For other uses, see Lancaster (disambiguation).
Treacher Collins syndrome
Other namesTreacher Collins–Franceschetti syndrome,[1] mandibulofacial dysostosis,[2] Franceschetti-Zwalen-Klein syndrome[3]
Child with Treacher Collins syndrome[4]
SpecialtyMedical genetics
SymptomsDeformities of the ears, eyes, cheekbones, chin[5]
ComplicationsBreathing problems, problems seeing, hearing loss[5]
CausesGenetic[5]
Diagnostic methodBased on symptoms, X-rays, genetic testing[3]
Differential diagnosisNager syndrome, Miller syndrome, hemifacial microsomia[3]
TreatmentReconstructive surgery, hearing aids, speech therapy[6]
PrognosisGenerally normal life expectancy[6]
Frequency1 in 50,000 people[5]

Treacher Collins syndrome (TCS) is a genetic disorder characterized by deformities of the ears, eyes, cheekbones, and chin.[5] The degree to which a person is affected, however, may vary from mild to severe.[5] Complications may include breathing problems, problems seeing, cleft palate, and hearing loss.[5] Those affected generally have normal intelligence.[5]

TCS is usually autosomal dominant.[5] More than half the time it occurs as a result of a new mutation rather than being inherited.[5] The involved genes may include TCOF1, POLR1C, or POLR1D.[5] Diagnosis is generally suspected based on symptoms and X-rays, and potentially confirmation by genetic testing.[3]

Treacher Collins syndrome is not curable.[6] Symptoms may be managed with reconstructive surgery, hearing aids, speech therapy, and other assistive devices.[6] Life expectancy is generally normal.[6] TCS occurs in about one in 50,000 people.[5] The syndrome is named after Edward Treacher Collins, an English surgeon and ophthalmologist, who described its essential traits in 1900.[7][8]

  1. ^ Rapini, Ronald P., Bolognia, Jean L., Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. pp. 894, 1686. ISBN 978-1-4160-2999-1.
  2. ^ "I hated seeing my face in the mirror". BBC Online. 18 November 2010. Archived from the original on 2018-10-11. Retrieved 2010-11-18.
  3. ^ a b c d "Treacher Collins Syndrome". NORD (National Organization for Rare Disorders). 2016. Archived from the original on 20 December 2019. Retrieved 7 November 2017.
  4. ^ Goel L, Bennur SK, Jambhale S (August 2009). "Treacher-collins syndrome-a challenge for anaesthesiologists". Indian Journal of Anaesthesia. 53 (4): 496–500. PMC 2894488. PMID 20640217.
  5. ^ a b c d e f g h i j k l "Treacher Collins syndrome". Genetics Home Reference. June 2012. Archived from the original on 26 June 2020. Retrieved 7 November 2017.
  6. ^ a b c d e "Treacher Collins syndrome". rarediseases.info.nih.gov. 2015. Archived from the original on 16 August 2019. Retrieved 7 November 2017.
  7. ^ R PJ, John P (2014). Textbook of Oral Medicine. JP Medical Ltd. p. 76. ISBN 978-93-5090-850-1. Archived from the original on 2020-09-12. Retrieved 2017-09-17.
  8. ^ Beighton G (2012). The Man Behind the Syndrome. Springer Science & Business Media. p. 173. ISBN 978-1-4471-1415-4.