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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Bloom syndrome


Other Names for this Disease

  • BLM
  • Bloom-Torre-Machacek syndrome
  • BLS
  • BS
  • Congenital Telangiectatic Erythema
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

What is Bloom syndrome?

How might Bloom syndrome be treated?

What is Bloom syndrome?

Bloom syndrome is a disorder characterized by a significantly increased risk of cancer and various other features. Signs and symptoms include short stature; sun-sensitive skin changes on the face, hands and/or arms; a high-pitched voice; and distinctive facial features including a long, narrow face, small lower jaw, large nose and prominent ears. Some affected individuals may also have learning disabilities; an increased risk of diabetes; chronic obstructive pulmonary disease (COPD); and recurrent infections of the upper respiratory tract, ears, and lungs during infancy. Cancers may include any of those found in the general population, but develop much earlier in life in affected individuals. It is caused by mutations in the BLM gene and is inherited in an autosomal recessive manner.[1] Treatment is generally symptomatic and supportive.
Last updated: 9/1/2011

How might Bloom syndrome be treated?

There is currently no cure for Bloom syndrome, so treatment is generally symptomatic and supportive. Because affected individuals are hypersensitive to DNA-damaging chemicals and ionizing radiation, standard cancer treatment plans often need to be adjusted for affected individuals. Changes may include reducing both the dosage and duration of the treatment; however, the cancers in affected individuals are often unusually responsive to treatment. The wide variety of types of cancer as well as the early development of tumors in affected individuals make life-long cancer surveillance significantly important. Additionally, it is recommended that individuals avoid sun exposure to the face, particularly in infancy and early childhood. Treatment of diabetes is typically the same as for individuals in the general population.[2]
Last updated: 9/1/2011

References
  1. Bloom syndrome. Genetics Home Reference. November 2010; http://ghr.nlm.nih.gov/condition/bloom-syndrome. Accessed 3/31/2014.
  2. Maureen M Sanz, James German. Bloom's syndrome. GeneReviews. March 28, 2013; http://www.ncbi.nlm.nih.gov/books/NBK1398/. Accessed 3/31/2014.


Other Names for this Disease
  • BLM
  • Bloom-Torre-Machacek syndrome
  • BLS
  • BS
  • Congenital Telangiectatic Erythema
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.