Nijmegen breakage syndrome

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We were unfortunately unable to download the information for this disease from OMIM.



Prevalence of clinical parameters (%)







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Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Microcephaly nervous 100 % 8929954 2012-01-10
Short stature multi 100 % 8929954 2012-01-10
Sloping forehead skeletal 100 % 10799436 2015-09-21
Prominent nose skeletal 100 % 10799436 2015-09-21
Micrognathia skeletal 100 % 10799436 2015-09-21
Radiosensitivity multi 96 % 10799436 2015-09-21
Recurrent infections respiratory 93 % 8929954 2012-01-10
Immune deficiency circulatory 93 % 8929954 2012-01-10
Prominent ears integumentary 83 % 10799436 2015-09-21
Developmental delay multi 73 % 26271390 2015-09-21
Developmental delay multi 73 % 26271390 2015-09-21
Epicanthal fold integumentary 71 % 10799436 2015-09-21
Clinodactyly skeletal 65 % 10799436 2015-09-21
Hypogammaglobulinemia lymphatic 62 % 26271390 2015-09-21
Cafe-au-lait spots integumentary 50 % 8929954 2012-01-10
Cancer circulatory 36 % 8929954 2012-01-10
Syndactyly skeletal 33 % 10799436 2015-09-21
Developmental delay nervous 20 % 8929954 2012-01-10
Increased IgM circulatory 14 % 26271390 2015-09-21
Mental retardation nervous 9 % 10799436 2015-09-21
Anal atresia digestive 7 % 10799436 2015-09-21



List of references:


Nijmegen breakage syndrome.
I van der Burgt, K H Chrzanowska, D Smeets, C Weemaes,

Nijmegen breakage syndrome (NBS), a rare autosomal recessive condition also known as ataxia telangiectasia (AT) variants V1 and V2, is characterised by microcephaly, typical facies, short stature, immunodeficiency, and chromosomal instability. We report the clinical, immunological, chromosomal, and cell biological findings in 42 patients who are included in the NBS Registry in Nijmegen. The immunological, chromosomal, and cell biological findings resemble those in AT, but the clinical findings are quite different. NBS appears to be a separate entity not allelic with AT.

Journal of medical genetics - Feb 1996



Nijmegen breakage syndrome. The International Nijmegen Breakage Syndrome Study Group.


Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disorder. NBS-1, the gene defective in NBS, is located on chromosome 8q21 and has recently been cloned. The gene product, nibrin, is a novel protein, which is member of the hMre11/hRad50 protein complex, suggesting that the gene is involved in DNA double strand break repair.

Archives of disease in childhood - May 2000



Nijmegen Breakage Syndrome: Clinical and Immunological Features, Long-Term Outcome and Treatment Options - a Retrospective Analysis.
Beata Wolska-Kuśnierz, Hanna Gregorek, Krystyna Chrzanowska, Barbara Piątosa, Barbara Pietrucha, Edyta Heropolitańska-Pliszka, Małgorzata Pac, Maja Klaudel-Dreszler, Larysa Kostyuchenko, Srdjan Pasic, Laszlo Marodi, Bernd H Belohradsky, Peter Čižnár, Anna Shcherbina, Sara Sebnem Kilic, Ulrich Baumann, Markus G Seidel, Andrew R Gennery, Małgorzata Syczewska, Bożena Mikołuć, Krzysztof Kałwak, Jan Styczyński, Anna Pieczonka, Katarzyna Drabko, Anna Wakulińska, Benjamin Gathmann, Michael H Albert, Urszula Skarżyńska, Ewa Bernatowska, ,

Nijmegen Breakage Syndrome (NBS) is a rare inherited condition, characterized by microcephaly, chromosomal instability, immunodeficiency, and predisposition to malignancy. This retrospective study, characterizing the clinical and immunological status of patients with NBS at time of diagnosis, was designed to assess whether any parameters were useful in disease prognosis, and could help determine patients qualified for hematopoietic stem cell transplantation.

Journal of clinical immunology - Aug 2015