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Treacher-Collins syndrome

Disease definition

A rare genetic mandibulofacial dysostosis characterized by bilateral symmetrical oto-mandibular dysplasia including underdeveloped cheekbones (malar hypoplasia), a very small low jaw (micrognathia) and downward-slanting palpebral fissures, coloboma of the lower eyelids, microtia, hearing loss and without abnormalities of the extremities. Intelligence is normal.


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
  • ICD-11: LD2F.16
  • OMIM: 154500  248390  613717  618939
  • UMLS: -
  • MeSH: -
  • GARD: 9124
  • MedDRA: -

Detailed information

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Disease review articles


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