Nijmegen breakage syndrome-like disorder
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.
MONDO:0015161
multiple congenital anomalies/dysmorphic syndrome without intellectual disability
is_a
MONDO:0015327
developmental anomaly of metabolic origin
is_a
MONDO:0021190
DNA repair disease
is_a
NBSLD
exact
NBs-like disorder
exact
Nijmegen breakage syndrome-like disorder
exact
RAD50 deficiency
exact
microcephaly and chromosomal instability without immunodeficiency
exact
SPAC1556.01c