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

0 clinical trials for this condition and its sub-types, 0 tagged with Bloom syndrome itself.

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↑ Hematologic disorder (8503) ↑ Syndromic disease (7133) ↑ Disorder of development or morphogenesis (5170) ↑ Autosomal recessive disease (994) ↑ Chromosomal disorder (276) ↑ Hereditary photodermatosis (31) ↑ Microcephaly, growth restriction and increased sister chromatid exchange (0)

Including sub-types (0) Tagged with Bloom syndrome (0)

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