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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.

ORPHA:861

  • 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

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