Nijmegen breakage syndrome

Nijmegen breakage syndrome (NBS) is an inherited disease characterized by significant small head circumference from birth (or shortly after), short stature, distinct facial features, recurrent respiratory infections, progressive intellectual disability, decreased fertility in females, and increased cancer risk. The symptoms of NBS are caused by defects in a protein called Nibrin that is involved in repairing damaged DNA as well as in regulating cell creation and growth. NBS is also known as ataxia-telangiectasia variant 1, Berlin breakage syndrome, and Seemanova syndrome. View testing options