布卢姆综合征（Bloom syndrome），1954年由皮肤学家大卫·布卢姆（David Bloom）发现和首先描述。一种罕见的常染色体隐性遗传病，患者DNA修复中的重组跨越系统有缺陷，因而对中度烷化剂敏感，白血病、淋巴瘤易感。症状有：光敏感、面部蝴蝶状红斑、面部运动失调、发育不良等。

Bloom syndrome (often abbreviated as BS in literature), also known as Bloom-Torre-Machacek syndrome, is a rare autosomal recessive disorder characterized by short stature, predisposition to the development of cancer and genomic instability. BS is caused by mutations in the BLM gene leading to mutated DNA helicase protein formation. Cells from a person with Bloom syndrome exhibit a striking genomic instability that includes excessive crossovers between homologous chromosomes and sister chromatid exchanges (SCEs). The condition was discovered and first described by New York dermatologist Dr. David Bloom in 1954.