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Hierarchy  - English - French - German - Spanish - Portuguese - Italian - Dutch    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®. Browse - New search

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 © Genetics Home Reference Browse - New search       Web resources for "Bloom Syndrome"   English (6)    German (1)  Spanish (1)    Italian (2)   = Site with HON description   -   = Site with a robot description info: enter the site: (click below) domain of the site:   HONcode - Bloom syndrome - Genetics Home Reference ghr.nlm.nih.gov 2 HONcode - ASNOM - Association Amicale Santé Navale et d'Outre Mer www.asnom.org   HONcode - Orphanet: Bloom syndrome www.orpha.net 2 rare-diseases — National Organization for Rare Disorders www.rarediseases.org   Broader term(s): - Abnormalities, Multiple - Abnormalities - Congenital, Hereditary, and Neonatal Diseases and Abnormalities - Metabolic Diseases - Nutritional and Metabolic Diseases Browse - New search       Medical image(s) for "Bloom Syndrome" No results for this term. Browse other medical images in HONmedia? Browse - New search       Medical News for "Bloom Syndrome" No results for this term. More health news Broader term(s): - Abnormalities Browse - New search       Scientific articles from MEDLINE for "Bloom Syndrome"   - English - French - German - Spanish - Portuguese - Italian - Dutch     All recent articles  Therapy:  by recall    /  by precision  Diagnosis:  by recall    /  by precision  Etiology:  by recall    /  by precision  Prognosis:  by recall    /  by precision Subheadings: complications / diagnosis / embryology / epidemiology / etiology / metabolism / microbiology / surgery / therapy Browse - New search       Clinical Trials for "Bloom Syndrome" ClinicalTrials.gov - Linking patients to medical research Biological Significance of the Bloom's Syndrome Protein Broader term(s): - Abnormalities - Congenital, Hereditary, and Neonatal Diseases and Abnormalities - Metabolic Diseases Browse - New search       Medical Conferences/Events for "Bloom Syndrome" No results for this term. Consult HON's world-wide database of medical meetings Browse - New search       Refine the search for  "Bloom Syndrome" 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               Abnormalities                   Abnormalities, Multiple  MeSH 2010 © U.S. National Library of Medicine®. Browse - New search

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