Nijmegen breakage syndrome-like disorder

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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: // Data version September 2023.

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Advocacy Organizations

My Faulty Gene

My Faulty Gene is a nonprofit organization which provides information and assistance to any individual whose family medical history suggests genetic testing might be helpful in identifying an increased risk of disease due to a genetic mutation. We believe that everyone in need of genetic testing should have access to it.

My Little Sunshine Foundation

My Little Sunshine is a non-profit foundation dedicated to educating people about the importance of fertility preservation and making fertility resources accessible to all.


Educate and provide resources to POC with Rare Cancers

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.

Accessia Health

Accessia Health pioneered the patient assistance model for people living with chronic medical conditions. We provide financial assistance to pay for prescriptions, medical treatments and expenses, travel and insurance premiums. Our program services include healthcare education, specialized legal services, and case management. We’re leveraging our three decades of our entrepreneurial spirit to expand patient assistance support to serve today’s healthcare consumers. Serving diverse populations is our #1 goal and we seek partners who share our belief that all people deserve to have access to healthcare. Over $1.1 billion has been distributed to patients throughout the country, helping them navigate their way through the complexities of the healthcare system. You can help us do even more.

Clinical Trials

For a list of clinical trials in this disease area, please click here.