Orphanet: Beckwith Wiedemann syndrome

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Beckwith-Wiedemann syndrome

Disease definition

Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations.


Classification level: Disorder
  • Synonym(s):
    • BWS
    • Exomphalos-macroglossia-gigantism syndrome
    • Wiedemann-Beckwith syndrome
  • Prevalence: 1-5 / 10 000
  • Inheritance: Unknown or Autosomal dominant 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q87.3
  • OMIM: 130650
  • UMLS: C0004903
  • MeSH: D001506
  • GARD: 3343
  • MedDRA: 10050344

Detailed information

Article for general public


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