Bloom Syndrome

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Is a:
  • Disease or Syndrome
  • Congenital Abnormality
Definition:
An autosomal recessive disorder characterized by telangiectatic erythema of the face, photosensitivity, dwarfism and other abnormalities, and a predisposition toward developing cancer. The Bloom syndrome gene (blm) encodes a RecQ-like dna helicase.
Synonyms:
  • Bloom Torre Machacek Syndrome
  • Bloom-Torre-Machacek Syndrome
  • Syndrome, Bloom
  • Syndrome, Bloom-Torre-Machacek
Broader Topics:
Narrower Topics:
  • None
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