Bloom Syndrome

Synonyms

Bloom Torre Machacek Syndrome

Bloom's Syndrome

Bloom-Torre-Machacek Syndrome

Congenital Telangiectatic Erythema

Syndrome, Bloom

Syndrome, Bloom-Torre-Machacek

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.