Bloom syndrome

external

• Synonyms

  • Congenital telangiectatic erythema
  • Bloom�Torre�Machacek syndrome

• Causes

  • BLM gene mutation

• Effects

  • Telangiectasia
  • Photosensitivity
  • Short stature
  • Haematological malignancy
  • Gastrointestinal carcinoma
  • Defective T-cell function
  • Defective B-cell function

• Parents

  • Congenital immunodeficiency
  • Autosomal recessive disorder
  • Disease due to genetic mutation

• Description

  • "Chromosome 15 DNA helicase mutation"