Nijmegen Breakage Syndrome or NBS is also referred to as Berlin Breakage Syndrome and Seemanova Syndrome. This condition is a rare form of disease syndrome. It is mainly characterized by chromosomal instability. Probable reason could be as a result of an abnormality or clinical defect in the Double Holliday junction DNA repair mechanism. Nijmegen Breakage Syndrome is usually manifested by several distinctive characteristics. Major clinical presentation includes microcephaly, distinct appearance and expression of the face, shortness in stature, immunodeficiency and sensitivity to radiation. Patients who are diagnosed with NBS are found to have an increased risk of having lymphoid malignancy. The name, Nijmegen Breakage Syndrome, was derived from the Dutch city, Nijmegen which was where the first description of this disease had been established. Majority of the people afflicted with NBS have origins from the West Slavic. A significant percentage live in Poland.

Aside from early recognition of the clinical characteristics of NBS, laboratory investigations are highly essential to establish the diagnosis.

Treatment includes careful monitoring of infections, Virus Screening (Epstein-Barr virus, cytomegalovirus etc.) is recommended at least once a year or whenever an infection is being suspected. Some patients may require intravenous immunoglobulin. Antibiotic prophylaxis should be administrated to children with infections of the urinary tract and respiratory system secondary to congenital malformations. Recent studies described the use of Bone Marrow Transplant for NBS patients. Due to patients' sensitivity to radiation, radiation therapy is strictly not recommended.

Nijmegen Breakage Syndrome is primarily caused by a mutation in the NBS1 gene. Chromosomal instability is a major clinical finding.

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