Back متلازمة تريتشر كولينز Arabic Treacher Collinsov sindrom BS Síndrome de Treacher Collins Catalan Treacher Collinsův syndrom Czech Treacher-Collins-Syndrom German Σύνδρομο Τρέτσερ-Κόλινς Greek Síndrome de Treacher Collins Spanish Treacher Collins sindromea Basque سندرم تریچر کالینز Persian Treacher Collinsin oireyhtymä Finnish

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[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]

facial involvement and life-threatening airway compromise.[9] Most of the features of TCS are symmetrical and are already recognizable at birth.[3]

The most common symptom of Treacher Collins syndrome is underdevelopment of the lower jaw and underdevelopment of the zygomatic bone. This can be accompanied by the tongue being retracted. The small mandible can result in a poor occlusion of the teeth or in more severe cases, trouble breathing or swallowing. The respiratory system of a child with Treacher Collins syndrome is the primary concern at birth, with other issues only addressed once respiratory function has been stabilized.[10] Underdevelopment of the zygomatic bone gives the cheeks a sunken appearance.[11][12]

The external ear is sometimes small, rotated, malformed, or absent entirely in people with TCS. Symmetric, bilateral narrowing or absence of the external ear canal, is also described.[12][13] In most cases, the bones of the middle ear and the middle ear cavity are misshapen. Inner ear malformations are rarely described. As a result of these abnormalities, a majority of the individuals with TCS have conductive hearing loss.[12][14]

Most affected people also experience eye problems, including coloboma (notches) in the lower eyelids, partial or complete absence of eyelashes on the lower lid, downward angled eyelids, drooping of upper and lower eyelids, and narrowing of the tear ducts. Vision loss can occur and is associated with strabismus, refractive errors, and anisometropia. It can also be caused by severely dry eyes, a consequence of lower eyelid abnormalities and frequent eye infections.[12][13][15][16]

Although an abnormally shaped skull is not distinctive for Treacher Collins syndrome, brachycephaly with bitemporal narrowing is sometimes observed.[13] Cleft palate is also common.[12]

Dental anomalies are seen in 60% of affected people, including tooth agenesis (33%), discoloration (enamel opacities) (20%), malplacement of the maxillary first molars (13%), and wide spacing of the teeth. In some cases, dental anomalies in combination with mandible hypoplasia result in a malocclusion. This can lead to problems with food intake and the ability to close the mouth.[12]

Less common features of TCS may add to an affected person's breathing problems, including sleep apnea. Choanal atresia or stenosis is a narrowing or absence of the choanae, the internal opening of the nasal passages, which may also be observed. Underdevelopment of the pharynx can also narrow the airway.[12]

Features related to TCS that are seen less frequently include nasal deformities, high-arched palate, macrostomia, preauricular hair displacement, cleft palate, hypertelorism, notched upper eyelid, and congenital heart defects.[11][12][16]

Although facial deformity is often associated with developmental delay and intellectual disability, more than 95% of people affected with TCS have normal intelligence.[12] The psychological and social problems associated with facial deformity can affect quality of life in individuals with TCS.

  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 e "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.
  9. ^ Edwards SJ, Fowlie, A, Cust, M P, Liu, D T, Young, I D, Dixon, M J (1 July 1996). "Prenatal diagnosis in Treacher Collins syndrome using combined linkage analysis and ultrasound imaging". Journal of Medical Genetics. 33 (7): 603–606. doi:10.1136/jmg.33.7.603. PMC 1050672. PMID 8818950.
  10. ^ Mouthon, L., Busa, T., Bretelle, F., Karmous‐Benailly, H., Missirian, C., Philip, N., & Sigaudy, S. (2019). Prenatal diagnosis of micrognathia in 41 fetuses: Retrospective analysis of outcome and genetic etiologies. American Journal of Medical Genetics Part A, 179(12), 2365–2373. doi: 10.1002/ajmg.a.61359
  11. ^ a b Cite error: The named reference Katsanis was invoked but never defined (see the help page).
  12. ^ a b c d e f g h i "The Physician's Guide to Treacher Collins Syndrome" (PDF). National Organization for Rare Disorders (NORD). 2012. Archived from the original (PDF) on 2017-01-28.
  13. ^ a b c Posnick JC (1 October 1997). "Treacher Collins syndrome: Perspectives in evaluation and treatment". Journal of Oral and Maxillofacial Surgery. 55 (10): 1120–1133. doi:10.1016/S0278-2391(97)90294-9. PMID 9331237.
  14. ^ Trainor PA, Dixon, Jill, Dixon, Michael J (24 December 2008). "Treacher Collins syndrome: etiology, pathogenesis and prevention". European Journal of Human Genetics. 17 (3): 275–283. doi:10.1038/ejhg.2008.221. PMC 2986179. PMID 19107148.
  15. ^ Hertle RW, Ziylan, S, Katowitz, J A (1 October 1993). "Ophthalmic features and visual prognosis in the Treacher-Collins syndrome". British Journal of Ophthalmology. 77 (10): 642–645. doi:10.1136/bjo.77.10.642. PMC 504607. PMID 8218033.
  16. ^ a b Marszałek B, Wójcicki, P, Kobus, K, Trzeciak, WH (2002). "Clinical features, treatment and genetic background of Treacher Collins syndrome". Journal of Applied Genetics. 43 (2): 223–33. PMID 12080178.
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