Bloom syndrome

Defects in BLM are the cause of Bloom syndrome, an autosomal recessive disorder characterized by proportionate pre- and postnatal growth deficiency; sun-sensitive, telangiectatic, hypo- and hyperpigmented skin; predisposition to malignancy; and chromosomal instability.

Alternative names

BS

BLS; Bloom-Torre-Machacek Syndrome; Syndrome Bloom;Syndrome Bloom-Torre-Machacek; Congenital Telangieactic Erythema

Classification

  • DNA breakage associated syndromes

Inheritance

Autosomal recessive

OMIM

#210900 Bloom syndrome; BLM

*604610 Bloom syndrome; BLM

Cross references

Phenotypically related immunodeficiencies

IDR factfile for Nijmegen-breakage syndrome

IDR factfile for Ataxia-telengiectasia

Incidence

Incidence unknown.