definition
An autosomal recessive disorder characterized by telangiectatic erythema of the face, photosensitivity, dwarfism, and other abnormalities.
synonyms
Bloom´s Syndrome, Erythema Teleangiectaticum Congenitale, Congenital Telangiectatic Erythema and Stunted Growth
UMLS
Bloom Syndrome, Bloom Torre Machacek Syndrome, Bloom's syndrome, Bloom-Torre-Machacek Syndrome, Congenital telangiectatic erythema syndrome, Syndrome, Bloom, Syndrome, Bloom-Torre-Machacek