Nijmegen breakage syndrome-like disorder
Synonyms: Microcephaly and chromosomal instability without immunodeficiency | NBS-like disorder | NBSLD | RAD50 deficiency
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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