Svensk definition
En autosomal, recessiv sjukdom kännetecknad av telangiektatisk hudrodnad i ansiktet, ljuskänslighet, kortväxthet och andra abnormaliteter.
Bloom Syndrome
Blooms syndrom
Engelsk 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.
Svenska synonymer
Inga svenska synonymer finns.
Engelska synonymer
Bloom's Syndrome — Bloom's Syndromes — Congenital Telangiectatic Erythema — Congenital Telangiectatic Erythemas — Erythema, Congenital Telangiectatic — Telangiectatic Erythema, Congenital — Bloom-Torre-Machacek Syndrome — Bloom Torre Machacek Syndrome