Encyclopedia of Ophthalmology

2018 Edition
| Editors: Ursula Schmidt-Erfurth, Thomas Kohnen

Treacher Collins-Franceschetti Syndrome (Mandibulofacial Dysostosis)

  • Sherveen SalekEmail author
Reference work entry
DOI: https://doi.org/10.1007/978-3-540-69000-9_786



Treacher Collins-Franceschetti syndrome (TCFS) was first described in 1900 and is an autosomal dominant condition that is characterized by general craniofacial soft tissue and skeletal hypoplasia of the first and second branchial arches, with a wide spectrum of deformities.


The disorder is caused by a mutation in the TCOF gene on chromosome 5q32-33.1, which encodes the treacle protein. Deletions in this gene cause haploinsufficiency in an autosomal dominant genotype, with deficiencies in ribosomal DNA transcription causing increased apoptosis of neural crest cells.

Clinical Presentation

The primary feature of TCFS is mandibular retrognathia, soft and hard tissue malar deficiency, downward-slanting palpebral fissures, euryblepharon with or without coloboma, and conductive hearing loss. The orbital region is characterized by hypoplasia of the superior and inferior...

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Further Reading

  1. Chang CC, Steinbacher DM (2012) Treacher collins syndrome. Semin Plast Surg 26(2):83–90PubMedPubMedCentralCrossRefGoogle Scholar
  2. Cobb AR, Green B, Gill D, Ayliffe P, Lloyd TW, Bulstrode N, Dunaway DJ (2014) The surgical management of Treacher Collins syndrome. Br J Oral Maxillofac Surg 52(7):581–589PubMedCrossRefGoogle Scholar
  3. Thompson JT, Anderson PJ, David DJ (2009) Treacher Collins syndrome: protocol management from birth to maturity. J Craniofac Surg 20(6):2028–2035PubMedCrossRefGoogle Scholar
  4. Trainor PA, Andrews BT (2013) Facial dysostoses: etiology, pathogenesis and management. Am J Med Genet C Semin Med Genet 163C(4):283–294PubMedCrossRefGoogle Scholar
  5. van Gijn DR, Tucker AS, Cobourne MT (2013) Craniofacial development: current concepts in the molecular basis of Treacher Collins syndrome. Br J Oral Maxillofac Surg 51(5):384–388PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag GmbH Germany 2018

Authors and Affiliations

  1. 1.Department of OphthalmologyWilmer Eye Institute, Johns Hopkins HospitalBaltimoreUSA