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Bloom syndrome

Disease definition

Bloom syndrome is a rare disorder associated with pre- and postnatal growth deficiency, a telangiectatic erythematous rash of the face and other sun-exposed areas, insulin resistance and predisposition to early onset and recurrent cancer of multiple organ systems.

ORPHA:125

Classification level: Disorder
  • 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: -

Detailed information

Professionals

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.