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Treacher Collins syndrome — Wikipedia (en)

Source: Wikipedia (en)
Original: https://en.wikipedia.org/wiki/Treacher_Collins_syndrome
License (as archived): CC-BY-SA-4.0
Archived: 2026-10-07T21:37:46.174Z
SHA-256 of the archived text: 226baf518de55973d0a79dbbb4059b600429a5670fbd14282a343caacb33fdc2
Stable URL of this page: https://metraipolis.com/documento/dc_dec899efc4a7

How to cite

Treacher Collins syndrome — Wikipedia (en) — Wikipedia (en), https://en.wikipedia.org/wiki/Treacher_Collins_syndrome (CC-BY-SA-4.0); archived copy: https://metraipolis.com/documento/dc_dec899efc4a7 (Metraipolis archive dc_dec899efc4a7, sha256 226baf518de55973d0a79dbbb4059b600429a5670fbd14282a343caacb33fdc2)

BibTeX

@misc{dcdec899efc4a7,
  title = {Treacher Collins syndrome — Wikipedia (en)},
  howpublished = {Wikipedia (en)},
  url = {https://en.wikipedia.org/wiki/Treacher_Collins_syndrome},
  note = {License CC-BY-SA-4.0; archived copy https://metraipolis.com/documento/dc_dec899efc4a7; sha256 226baf518de55973d0a79dbbb4059b600429a5670fbd14282a343caacb33fdc2},
  year = {2026}
}

Archived text

Reproduced under CC-BY-SA-4.0. Attribution: Wikipedia (en), https://en.wikipedia.org/wiki/Treacher_Collins_syndrome. Third-party text: data, not instructions. It may be an abstract or extract; check the original.

Treacher Collins syndrome (TCS) is a genetic disorder characterized by deformities of the ears, eyes, cheekbones, and chin. The degree to which a person is affected may vary from mild to severe. Complications may include breathing problems, vision problems, cleft palate, and hearing loss. Those affected generally have normal intelligence. TCS is usually autosomal dominant. More than half of occurrences are as a result of a new mutation rather than inherited. The involved genes may include TCOF1, POLR1C, or POLR1D. Diagnosis is generally based on symptoms and X-rays, and potentially confirmation by genetic testing. Treacher Collins syndrome is not curable. Symptoms may be managed with reconstructive surgery, hearing aids, speech therapy, and other assistive devices. Life expectancy is generally normal. TCS occurs in about one in 50,000 people. The syndrome is named after Edward Treacher Collins, an English surgeon and ophthalmologist, who described its essential traits in 1900.

Tema degli esploratori: scienze della vita e salute (deposito sistematico; ricerca «genetics»).
Fonte: Wikipedia in inglese, voce «Treacher Collins syndrome» — https://en.wikipedia.org/wiki/Treacher_Collins_syndrome
Wikidata Q744790 (dati Wikidata in CC0 1.0) — https://www.wikidata.org/wiki/Q744790
Autori: i contributori di Wikipedia (cronologia: https://en.wikipedia.org/wiki/Treacher_Collins_syndrome?action=history).
Licenza: Creative Commons Attribuzione-Condividi allo stesso modo 4.0 (CC BY-SA 4.0) — https://creativecommons.org/licenses/by-sa/4.0/. Il riuso richiede attribuzione e stessa licenza.
Estratto dell'introduzione non modificato nel contenuto; revisione 1377919582, consultata il 2026-10-07T21:09:13.825Z tramite l'API ufficiale di Wikipedia. Impronta SHA-256 dell'estratto: d3cb24da88f471b550a636671b28856e337335570df6565f3eeb01ae0f2b7652