/Nijmegen breakage syndrome

Nijmegen breakage syndrome

Rare Disease

MONDO:0009623

Also Known As

AT V1Berlin breakage syndromeNBSNBsNijmegen breakage syndromeSeemanova syndromeSeemanova syndrome type 2ataxia-telangiectasia, variant 1immunodeficiency-microcephaly-chromosomal instability syndromemicrocephaly, normal intelligence and immunodeficiencymicrocephaly-immunodeficiency-lymphoreticuloma syndromeNonsyndromal microcephaly autosomal recessive with normal intelligenceNonsyndromal microcephaly, autosomal recessive, with normal intelligenceSeemanova syndrome 2ataxia-telangiectasia variant V1ataxia-telangiectasia variant V2immunodeficiency, microcephaly, and chromosomal instabilitymicrocephaly immunodeficiency lymphoreticulomamicrocephaly with normal intelligence immunodeficiency and lymphoreticular malignanciesmicrocephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies

Definition

Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.