Developer site: The content shown here is test data.

MyEClinic
MyEClinic
Health Dictionary AI Health Chat Find an Online Doctor
A serene Zen garden with raked sand and smooth stones, symbolising clarity and calm

Health Dictionary

Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.

Back to skin conditions

Nijmegen breakage syndrome

Introduction


Nijmegen breakage syndrome (NBS) (also known as Berlin breakage syndrome and Seemanova syndrome) is a rare syndrome characterised by chromosomal instability, probably as a result of a defect in the Double Holliday junction DNA repair mechanism.

It is characterized by microcephaly, a distinct facial appearance, short stature, immunodeficiency, radiation sensitivity and a strong predisposition to lymphoid malignancy. [1][2]

It is caused by a mutation in the NBS1 gene. [3]

The name derives from the Dutch city Nijmegen where the condition was first described.[4]

Most people with NBS have West Slavic origins. The largest number of them live in Poland.

References

References

  1. ↑ Digweed M, Sperling K (2004). “Nijmegen breakage syndrome: clinical manifestation of defective response to DNA double-strand breaks”. DNA Repair (Amst). 3 (8–9): 1207–17. PMID 15279809.
  2. ↑ “Nijmegen breakage syndrome. The International Nijmegen Breakage Syndrome Study Group”. Arch Dis Child. 82 (5): 400–6. 2000. PMID 10799436. Full text
  3. ↑ Iijima K, Komatsu K, Matsuura S, Tauchi H (2004). “The Nijmegen breakage syndrome gene and its role in genome stability”. Chromosoma. 113 (2): 53–61. PMID 15258809.
  4. ↑ Weemaes CM, Hustinx TW, Scheres JM, van Munster PJ, Bakkeren JA, Taalman RD. (1981). “A new chromosomal instability disorder: the Nijmegen breakage syndrome”. Acta Paediatr Scand. 70 (4): 557–64. PMID 7315300.
External links

Template:Genetic-disorder-stub

de:Nijmegen-Breakage-Syndrom fi:Nijmegenin murtumaoireyhtymä Template:WikiDoc Sources