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Bloom Syndrome
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.

Synonym(s): Bloom-Torre-Machacek Syndrome / Bloom Torre Machacek Syndrome / Syndrome, Bloom / Syndrome, Bloom-Torre-Machacek /
See also:
RecQ Helicases   

MeSH 2010 © U.S. National Library of Medicine®.
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  More information from the Genetics Home Reference Website
What is Bloom syndrome?
Bloom syndrome is an inherited disorder characterized by a high frequency of breaks and rearrangements in an affected person's chromosomes. People with Bloom syndrome are much smaller than average, and often have a high-pitched voice and characteristic facial features including a long, narrow face; small lower jaw; and prominent nose and ears. They tend to develop pigmentation changes and dilated blood vessels in the skin, particularly in response to sun exposure. These changes often appear as a butterfly-shaped patch of reddened skin on the face. The skin changes may ...

How common is Bloom syndrome?
Bloom syndrome is a very rare disorder in most populations, and its overall frequency is unknown. It is more common in people of Central and Eastern European (Ashkenazi) Jewish background, among whom 1 in 48,000 are affected. Approximately one third of people with Bloom syndrome are of Ashkenazi Jewish descent.


More information from the Genetics Home Reference Website
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  Web resources for "Bloom Syndrome"
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view the HON description of the site HONcode - Bloom syndrome - Genetics Home Referenceghr.nlm.nih.gov 2
view the robot description of the site Bloom Syndrome |www.emedicinezone.com  
view the robot description of the site Bloom Syndrome | Absolute Medicalwww.drknp.com  
view the HON description of the site HONcode - Orphanet: Bloom syndromewww.orpha.net  
view the robot description of the site rare-diseases — National Organization for Rare Disorderswww.rarediseases.org  
view the robot description of the site Causes of Colon Cancer - Impact of Medical Conditionscoloncancer.about.com  
 
 

Broader term(s): - Abnormalities, Multiple - Congenital Abnormalities - Congenital, Hereditary, and Neonatal Diseases and Abnormalities - Metabolic Diseases

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  Medical image(s) for "Bloom Syndrome"
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  Medical News for "Bloom Syndrome"
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Broader term(s): - Congenital Abnormalities

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  Scientific articles from MEDLINE for "Bloom Syndrome"
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Subheadings: complications / diagnosis / embryology / epidemiology / etiology / metabolism / microbiology / surgery / therapy

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Subheadings: complications / diagnosis / embryology / epidemiology / etiology / metabolism / microbiology / surgery / therapy


  Broader term(s):
      Diseases
          Nutritional and Metabolic Diseases
              Metabolic Diseases
                  DNA Repair-Deficiency Disorders 
      Diseases
          Congenital, Hereditary, and Neonatal Diseases and Abnormalities
              Congenital Abnormalities
                  Abnormalities, Multiple 

MeSH 2010 © U.S. National Library of Medicine®.

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