Nijmegen Breakage Syndrome. Nijmegen breakage syndrome (NBS) is an autosomal recessive disease caused by biallelic mutations in NBN, a gene that encodes nibrin, a protein involved in DNA repair and cell cycle checkpoint regulation.
According to the international Nijmegen breakage syndrome study group, growth retardation is also a hallmark of this disease , although there is not many details about this feature in the literature.
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Sperling, "Nijmegen breakage syndrome: Clinical manifestation of defective response to DNA double-strand breaks," DNA Repair, vol.
Gajdulewicz et al., "High prevalence of primary ovarian insufficiency in girls and young women with Nijmegen breakage syndrome: Evidence from a longitudinal study," The Journal of Clinical Endocrinology & Metabolism, vol.
Taylor et al., "Severe microcephaly with normal intellectual development: The Nijmegen breakage syndrome," Archives of Disease in Childhood, vol.
Nagarkar, "Speech impairment in Nijmegen breakage syndrome: A rare anomaly," International Journal of Pediatric Otorhinolaryngology, vol.
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Coverage includes the clinical features of AT, mutations in the AT mutated gene, cell signaling in AT, DNA damage and repair in AT, protein-protein interactions in AT, chromosomal instability in AT, cell cycle defects and apoptosis in AT, oxidative stress and AT, oncogenesis in AT, AT and its overlap with Nijmegen Breakage Syndrome
and ataxia-like disorders, and animal models for AT.
Slovis said some children with hereditary diseases--including ataxiatelangiectasia, basal cell nevus syndrome, Cockayne's syndrome, Down syndrome, Fanconi's anemia, Gardner's syndrome, Nijmegen breakage syndrome
, and Usher's syndrome--are extremely sensitive to radiation and should not be exposed at all, if possible.