Bloom Syndrome
MESHD001816
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-Torre-Machacek Syndrome
- Bloom Torre Machacek Syndrome
- Bloom's Syndrome
- Bloom's Syndromes
- Congenital Telangiectatic Erythema
- Congenital Telangiectatic Erythemas
- Erythema, Congenital Telangiectatic
- Telangiectatic Erythema, Congenital
Source last updated 2026-05-24T15:28:08.267Z