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Bloom syndrome

Disease definition

Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer.

ORPHA:125

  • Synonym(s):
    • BSyn
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Neonatal, Antenatal
  • ICD-10: Q82.2
  • OMIM: 210900
  • UMLS: C0005859
  • MeSH: D001816
  • GARD: 915
  • MedDRA: -

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