/Nijmegen breakage syndrome-like disorder

Nijmegen breakage syndrome-like disorder

Rare Disease

MONDO:0013118

Also Known As

NBSLDNBs-like disorderNijmegen breakage syndrome-like disorderRAD50 deficiencymicrocephaly and chromosomal instability without immunodeficiencyRad50 deficiencymicrocephaly and spontaneous chromosome instability without immunodeficiency

Definition

Nijmegen breakage syndrome-like disorder is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by growth retardation, short stature, developmental delay, intellectual disability, craniofacial dysmorphism (i.e. severe microcephaly, sloping forehead, prominent eyes, broad nasal ridge, hypoplastic nasal septum, epicanthal folds), spontaneous chromosomal instability, cellular hypersensitivity to ionizing radiation and radioresistant DNA synthesis, without severe infections, immunodeficiency or cancer predisposition. Additional reported features include mild spasticity, slight and nonprogressive ataxia, hyperopia, multiple pigmented nevi, widely spaced nipples, and clinodactyly.