Nijmegen breakage syndrome
Nijmegen breakage syndrome
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.
Also known as AT V1, ataxia-telangiectasia, variant 1, Berlin breakage syndrome, immunodeficiency-microcephaly-chromosomal instability syndrome, NBS, Nijmegen breakage syndrome, Seemanova syndrome, Seemanova syndrome type 2 — per MONDO