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.

**Tree numbers:** - C16.131.077.137 - C16.320.798.313 - C18.452.284.100 - C20.673.795.313

**Synonyms:** - Bloom-Torre-Machacek Syndrome - Bloom's Syndrome - Congenital Telangiectatic Erythema