Bloom syndrome

Also known as: Bloom–Torre–Machacek syndrome

Short stature with photosensitive rash and cancer predisposition.

Medical specialty: Hematology
Subspecialty: Hematology / Hereditary cancer
Sex & age distribution: Male: affected; Female: affected equally; Children: yes
Gene(s) involved: BLM

Etiology & mechanism

BLM helicase deficiency causes sister chromatid exchange.

Gene(s) involved (1)

BLM

Symptoms & signs (6)

immunodeficiencyinfertilityleukemialymphomashort staturesun-sensitive facial erythema

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.