Encyclopedia of Cancer

Living Edition
| Editors: Manfred Schwab

Nijmegen Breakage Syndrome

  • Martin Digweed
Living reference work entry
DOI: https://doi.org/10.1007/978-3-642-27841-9_4086-2



Nijmegen breakage syndrome is a genetic disease characterized by an extreme sensitivity toward ionizing radiation and a high risk for the development of lymphatic tumors.


Nijmegen breakage syndrome (NBS) is a rare genetic disease; inheritance follows an autosomal recessive modus with complete penetrance. Although the birth weight and size of homozygotes are normal, microcephaly and growth retardation soon become apparent and are major symptoms of the disorder. Progressive mental retardation is typical; however, IQ is usually within the normal range during early childhood. A sloping forehead and receding mandible give NBS patients a characteristic facial appearance which becomes more pronounced with age. NBS patients are immunodeficient in both cellular and humoral immune systems leading to frequent infections particularly of the respiratory tract....


Cell Cycle Checkpoint Ataxia Telangiectasia Patient Cell Nijmegen Breakage Syndrome Autosomal Recessive Modus 
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Copyright information

© Springer-Verlag Berlin Heidelberg 2015

Authors and Affiliations

  1. 1.Institute of Medical and Human GeneticsCharité – Universitätsmedizin BerlinBerlinGermany