Treacher Collins Syndrome
| Classification according to ICD-10 | |
|---|---|
| Q75.4 | Mandibulofacial Dysostosis - Franceschetti I Syndrome ((Treacher) Collins Syndrome) |
| ICD-10 online (WHO version 2019) | |
The Treacher-Collins syndrome ( synonyms : Franceschetti-Zwahlen syndrome , Berry syndrome or dysostosis mandibulofacialis ) is a hereditary disease that leads to facial malformations (craniofacial dysmorphy).
The characteristics include: absence or malformation of ears and cheekbones , cleft palate , "receding" chin ( micrognathia ), and eyelid abnormalities. The characteristics are variable. Often occurs conductive hearing loss , which may by a bone conduction hearing aid or a bone anchored hearing aid can be compensated.
The syndrome is named after Edward Treacher Collins or Adolphe Franceschetti .
Treacher Collins syndrome is inherited as an autosomal dominant trait.
Differential diagnostics include the Elschnig syndrome , the mandibulo-facial dysostosis-microcephaly syndrome and the rodent syndrome .
Individual evidence
- ↑ Theodor Axenfeld (founder), Hans Pau (ed.), With the collaboration of Rudolf Sachsenweger a . a .: Textbook and Atlas of Ophthalmology . 12th edition. Gustav Fischer Verlag, Stuttgart 1980, ISBN 3-437-00255-4 , p. 588.
- ↑ J. Dixon, P. Trainor, MJ Dixon: Treacher Collins syndrome. In: Orthodontics and Craniofacial Research. Vol. 10 (2007), pp. 88-95, ISSN 1601-6335 .
Web links
- Vanessa Barford: I hated seeing my face in the mirror. BBC News, November 8, 2010, accessed February 7, 2014 (report on a victim).
