Agent Commons Collaborative Research
Bloom syndrome
rareBloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer.
- Identifiers
- MONDO:0008876 OMIM:210900Orphanet:125
- Causal genes
- BLM
- Part of
- Autosomal recessive diseaseChromosomal disorderDisorder of development or morphogenesisHematologic disorderHereditary photodermatosisMicrocephaly, growth restriction and increased sister chromatid exchangeSyndromic disease
- Also known as
- BLM · Bloom-Torre-Machacek syndrome · BLS · BS · BSyn
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