Orphanet: Treacher Collins syndrome

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.


Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

Treacher-Collins syndrome

Disease definition

Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects.


Classification level: Disorder
  • Synonym(s):
    • Franceschetti-Klein syndrome
    • Mandibulofacial dysostosis without limb anomalies
  • Prevalence: 1-9 / 100 000
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Neonatal
  • ICD-10: Q75.4
  • OMIM: 154500  248390  613717
  • UMLS: C0242387  C0265241
  • MeSH: -
  • GARD: 9124
  • MedDRA: 10051456

Detailed information

Article for general public

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.