Bloom syndrome

MONDO:0008876

Bloom 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.

Also known as: BSyn, Bloom syndrome, Bloom-Torre-Machacek syndrome, congenital telangiectatic erythema syndrome, BLM, BLS, BS, MGRISCE1

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