Bloom Syndrome

Blooms syndrom

Svensk definition

En autosomal, recessiv sjukdom kännetecknad av telangiektatisk hudrodnad i ansiktet, ljuskänslighet, kortväxthet och andra abnormaliteter.

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