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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
More Names
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Overview


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

References

  1. Bloom syndrome. Genetics Home Reference. November 2010; http://ghr.nlm.nih.gov/condition/bloom-syndrome. Accessed 3/31/2014.
Your Questions Answered
by the Genetic and Rare Diseases Information Center

3 question(s) from the public on Bloom syndrome have been answered. See questions and answers. You can also submit a new question.

Basic Information

  • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
  • Genetics Home Reference (GHR) contains information on Bloom syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Bloom syndrome. Click on the link to view a sample search on this topic.