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Nijmegen breakage syndrome

Disease definition

A rare, genetic chromosomal instability syndrome presenting at birth with microcephaly, dysmorphic facial features which become more noticeable with age, growth delay, recurring sinopulmonary infections and extremely high frequency of malignancies.


Classification level: Disorder
  • Synonym(s):
    • AT V1
    • Ataxia-telangiectasia, variant 1
    • Berlin breakage syndrome
    • Immunodeficiency-microcephaly-chromosomal instability syndrome
    • Microcephaly-immunodeficiency-lymphoid malignancy syndrome
    • NBS
    • Seemanova syndrome type 2
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.8
  • OMIM: 251260
  • UMLS: C0398791  C2930831
  • MeSH: C531759  D049932
  • GARD: 3904
  • MedDRA: 10067857

Detailed information


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