Nijmegen breakage syndrome (NBS)

Overview

What is Nijmegen breakage syndrome?

Nijmegen breakage syndrome (NBS) is an autosomal recessive disorder characterized by short stature, an unusually small head (microcephaly), certain facial features, respiratory tract infections, mental retardation (intellectual disability), brain malformations, minor skeletal malformations, a higher chance of getting cancer, and other health problems.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/nijmegen-breakage-syndrome-nbs/overview/3785 • DATE UPDATED: 2016-06-22

References

Nijmegen breakage syndrome. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/nijmegen-breakage-syndrome

Chrzanowska, KH et al. Nijmegen breakage syndrome (NBS). Orphanet Journal of Rare Diseases 2012, 7:13. doi: 10.1186/1750-1172-7-13

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