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Bloom syndrome

Synonyms
Bloom-Torre-Machacek syndrome; Growth deficiency, sun-sensitive, telangiectatic, hypo and hyperpigmented skin, predisposition to malignancy and chromosomal instability
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

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]

Available tests

138 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (138 available)

Biochemical Genetics Tests

Cytogenetics Tests

Molecular Genetics Tests

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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Imported from Human Phenotype Ontology (HPO)

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Reviews

Suggested reading

Clinical resources

Practice guidelines

  • NCCN, 2024
    NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Esophageal and Esophagogastric Junction Cancers, 2024
  • ACMG ACT, 2011
    American College of Medical Genetics ACT Sheet, Carrier Screening ACT Sheet Ashkenazi Jewish Genetic Disorders

Molecular resources

Consumer resources

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