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.

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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Are there other names for Nijmegen breakage syndrome?

What is the usual abbreviation for Nijmegen breakage syndrome?

Is Nijmegen breakage syndrome a genetic condition?

Are there other names for Nijmegen breakage syndrome?

Nijmegen breakage syndrome is the most common name for the disorder but there are other names also. NBS is also called Ataxia-telangiectasia variant V1 (AT-V1) and Seemanova syndrome II.

References
  • Nijmegen breakage syndrome. OMIM.orghttp://www.omim.org/entry/251260?search=Nijmegen%20breakage%20syndrome&highlight=syndromic%20breakage%20nijmegen%20syndrome
What is the usual abbreviation for Nijmegen breakage syndrome?

Nijmegen breakage syndrome can be abbreviated NBS.

References
  • Nijmegen breakage syndrome. OMIM.orghttp://www.omim.org/entry/251260?search=Nijmegen%20breakage%20syndrome&highlight=syndromic%20breakage%20nijmegen%20syndrome
Is Nijmegen breakage syndrome a genetic condition?

NBS is caused by a mutation (change) in a gene. A gene is an instruction to our bodies on how to function and develop. The gene that has a mutation in NBS is most often called the NBN gene. It is also known as the NBS1 gene. When there is a mutation in the NBN gene, it cannot do its job as well. This causes someone to have NBS.

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

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