Bloom Syndrome
Bloom syndrome is caused by biallelic BLM mutations; small body size, sun-sensitive telangiectatic facial erythema, immunodeficiency; elevated sister chromatid exchanges (~10x); pan-cancer predisposition (ALL, lymphoma, GI carcinoma, skin cancers); median survival ~30 years.
Entry Metadata
| Field | Value |
|---|---|
| ID | bloom-syndrome |
| Name | Bloom Syndrome |
| Status | draft |
| Last reviewed | 2026-06-07 |
| Atlas | 01-human |
| Scale | 07-system |