GTR Home > Conditions/Phenotypes > Bloom syndrome

Summary

Bloom syndrome (BSyn) is characterized by severe pre- and postnatal growth deficiency, immune abnormalities, sensitivity to sunlight, insulin resistance, and a high risk for many cancers that occur at an early age. Despite their very small head circumference, most affected individuals have normal intellectual ability. Women may be fertile but often have early menopause, and men tend to be infertile, with only one confirmed case of paternity. Serious medical complications that are more common than in the general population and that also appear at unusually early ages include chronic obstructive pulmonary disease, diabetes mellitus as a result of insulin resistance, and cancer of a wide variety of types and anatomic sites. [from GeneReviews]

Genes See tests for all associated and related genes

  • Also known as: BS, MGRISCE1, RECQ2, RECQL2, RECQL3, BLM
    Summary: BLM RecQ like helicase

Clinical features

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Practice guidelines

  • ACOG, 2009
    ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.
  • ACMG, 2008
    Carrier screening in individuals of Ashkenazi Jewish descent.

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