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Bloom Syndrome

Abstract

You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.

NORD is very grateful to John Barranger, PhD, MD, Director, Lysosomal Storage Disease, Clinical Care Network, for assistance in the preparation of this report.

Synonyms of Bloom Syndrome

  • Bloom-Torre-Mackacek syndrome
  • BS
  • congenital telangiectatic erythema
  • dwarfism, Levi's type
  • short stature and facial telangiectasis
  • short stature, telangiectatic erythema of the face

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Bloom syndrome is a rare genetic disorder characterized by short stature; increased sensitivity to light (photosensitivity); multiple small dilated blood vessels on the face (facial telangiectasia), often resembling a butterfly in shape; immune deficiency leading to increased susceptibility to infections; and, perhaps most Importantly, a markedly increased susceptibility to cancer of any organ, but especially to leukemia and lymphoma. Some clinicians classify Bloom syndrome as a chromosomal breakage syndrome; that is, a disorder associated with a high frequency of chromosomal breaks and rearrangements. It is suspected that there is a link between the frequency of chromosomal breaks and the increased propensity toward malignancies.

Bloom syndrome is inherited as an autosomal recessive genetic trait. It is often included among the Jewish genetic diseases.

Organizations related to Bloom Syndrome

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