Nijmegen-breakage syndrome

Nijmegen breakage syndrome is an autosomal recessive chromosomal instability syndrome characterised by short stature, progressive microcephaly with loss of cognitive skills, ovarian failure in females and immunodeficiency. NBS is also associated with an increased risk of cancer, particularly lymphomas. Mutations of the NBS1 gene are detected in nearly all patients.

Alternative names


Microcephaly - immunodeficiency - lymphoreticuloma

Seemanova syndrome type 2


  • DNA breakage associated syndromes and DNA epigenetic modification syndromes
    • DNA-breakage-associated syndromes


Autosomal recessive


#251260 Nijmegen breakage syndrome gene; NBS1

*602667 NBS1 GENE; NBS1

Cross references

Phenotypically related immunodeficiencies

IDR factfile for Nijmegen-breakage syndrome

IDR factfile for Bloom syndrome


Incidence is not known.