Bloom Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** 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)

**Synonyms:** - Bloom syndrome - Bloom-Torre-Machacek syndrome - Congenital Telangiectatic Erythema Syndrome