Bloom syndrome
ICD-10 Code
Q82.2
Bloom syndrome
Definition
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 Bloom syndrome, Bloom-Torre-Machacek syndrome, BSyn, congenital telangiectatic erythema syndrome — per MONDO