Search results
People also ask
What is Nijmegen breakage syndrome?
Do people with Nijmegen breakage syndrome have children?
Does Nijmegen Breakage Syndrome cause cancer?
Nijmegen breakage syndrome (NBS) is a rare autosomal recessive congenital disorder causing chromosomal instability, probably as a result of a defect in the double Holliday junction DNA repair mechanism and/or the synthesis dependent strand annealing mechanism for repairing double strand breaks in DNA (see Homologous recombination).
May 17, 1999 · Nijmegen breakage syndrome (NBS) is characterized by progressive microcephaly, early growth deficiency that improves with age, recurrent respiratory infections, an increased risk for malignancy (primarily lymphoma), and premature ovarian failure in females.
Learn about the symptoms, causes, inheritance, and treatment of Nijmegen breakage syndrome, a rare genetic disorder that affects growth, immunity, and cancer risk. Find out how this condition is diagnosed and managed by geneticists and other specialists.
Feb 22, 2023 · NBS is a rare genetic disorder that affects DNA repair and causes growth deficiency, immunodeficiency, and cancer risk. Learn about the diagnosis, complications, and outlook of NBS and how to prevent it.
A rare, genetic chromosomal instability syndrome presenting at birth with microcephaly, dysmorphic facial features which become more noticeable with age, growth delay, recurring sinopulmonary infections and extremely high frequency of malignancies.
Nijmegen breakage syndrome (NBS) is a genetic disorder that causes chromosomal instability, microcephaly, immune deficiency and high cancer risk. Learn about its epidemiology, etiology, diagnosis, management and prognosis from Orphanet, a source of knowledge on rare diseases and orphan drugs.
Variants in the NBN gene, which codes for a protein called nibrin, cause Nijmegen breakage syndrome (NBS), a chromosomal instability condition. Deficiency of nibrin leads to poor ability to repair DNA.
