Bloom Syndrome

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Bloom Syndrome
TermBloom Syndrome
Short definitionBloom Syndrome - rare inherited disorder characterized by being shorter than average, a narrow face, a red rash on sun-exposed areas of the body, and an increased risk of cancer. The rash usually appears on the face, arms, and backs of hands. 
TypeCancer terms
SpecialtyOncology
LanguageEnglish
SourceNCI
Comments


Bloom Syndrome - rare inherited disorder characterized by being shorter than average, a narrow face, a red rash on sun-exposed areas of the body, and an increased risk of cancer. The rash usually appears on the face, arms, and backs of hands. Small collections of dilated blood vessels may appear in the rash and in the eyes. Other signs and symptoms include patches of skin that may be lighter or darker than the skin around them, a small jaw and large ears, a high-pitched voice, fertility problems, learning problems, and other growth and development problems. People with this disorder have an increased risk of diabetes, chronic obstructive pulmonary disease, and frequent ear and lung infections. They are also at increased risk of developing cancers at a young age, particularly squamous cell carcinoma of the skin, leukemia, lymphoma and gastrointestinal cancers. Bloom syndrome is caused by a mutation (change) in the BLM gene that causes cells to have abnormal breaks in the chromosomes. Also called Bloom-Torre-Machacek Syndrome

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