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WT limb-blood syndrome

Disease definition

A rare constitutional aplastic anemia disorder characterized by severe hypo/aplastic anemia or pancytopenia associated with skeletal anomalies (such as radial/ulnar defects and hand/digit abnormalities) and an increased risk of leukemia. There have been no further descriptions in the literature since 1995.


Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood
  • ICD-10: D61.0
  • OMIM: 194350
  • UMLS: C1327917
  • MeSH: C536751
  • GARD: 39
  • MedDRA: -

Detailed information


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