Bloom Syndrome: A rare genetic inherited genetic disorder which mainly affects Ashkenazic Jewish people and is characterized by short stature, malar hypoplasia, and a telangiectatic erythema of the face. More detailed information about the symptoms, causes, and treatments of Bloom Syndrome is available below.
See full list of 16 symptoms of Bloom Syndrome
Review possible medical complications related to Bloom Syndrome:
Research the causes of these diseases that are similar to, or related to, Bloom Syndrome:
Book excerpts: Copyright © 2008 Lippincott Williams & Wilkins. All rights reserved.
See full list of 21 occasional symptoms of Bloom Syndrome
Read more about causes of Bloom Syndrome.
Medical news articles related to Bloom Syndrome include:
Source: HealthDay News
Medical research articles related to Bloom Syndrome include:
Click here to find more evidence-based articles on the TRIP Database
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Visit our research pages for current research about Bloom Syndrome treatments.
The US based website ClinicalTrials.gov lists information on both federally and privately supported clinical trials using human volunteers.
Some of the clinical trials listed on ClinicalTrials.gov for Bloom Syndrome include:
Read more about Clinical Trials for Bloom Syndrome
Read about other experiences, ask a question about Bloom Syndrome, or answer someone else's question, on our message boards:
Bloom syndrome is an autosomal recessive disorder associated with mutations in BLM gene encoding protein that belongs to the family of DNA helicases. It is characterized by predisposition to cancer, immunodeficiency, high sensitivity to UV and genomic instability of somatic cells. (Oncogene 2001 Dec 13;20(57):8276-80) - (Source - Diseases Database)
Bloom Syndrome is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Bloom Syndrome, or a subtype of Bloom Syndrome,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
Ophanet, a consortium of European partners,
currently defines a condition rare when it affects 1 person per 2,000.
They list Bloom Syndrome as a "rare disease".
Source - Orphanet
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