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.
Synonyms: Bloom's Syndromes, Bloom-Torre-Machacek Syndrome, Bloom Torre Machacek Syndrome, Bloom's Syndrome, Congenital Telangiectatic Erythema, Bloom Syndrome, Congenital Telangiectatic Erythemas, Telangiectatic Erythema, Congenital, Erythema, Congenital Telangiectatic
Instance information
comment
82
identifier
D001816