Nijmegen breakage syndrome-like disorder

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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 June 2024

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Advocacy Organizations

Cache DNA

At Cache, we are on a mission to store the biomolecules of today in order to unlock the possibilities of tomorrow. Our vision is to create a scalable, sustainable, and standardized platform for reliable storage and access of biomolecules by combining chemistry, biology, automation, and computational tools to support patient advocacy groups worldwide and better connect samples to insights.

Ukrainian Association of Pediatric Immunology

Development of pediatric and clinical immunology in Ukraine. Raising awareness of inborn errors of immunity in Ukraine and rare immune diseases; Advocacy campaigns supporting patients with rare immune diseases and their treatment plans; Scientific research; Sharing knowledge about immunoprophylaxis; Advocacy campaigns supporting immunoprophylaxis.

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Clinical Trials

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