Aside from an increased cancer risk, individuals with NBS display several clinical features, including microcephaly, growth retardation, immunodeficiency, and distinct facial features. The immunodeficiency observed in NBS patients further compounds their cancer risk, as the immune system plays a critical role in surveilling and eliminating malignant cells. The diagnosis of NBS is often suspected based on these characteristic features and confirmed through genetic testing for NBS1 mutations.
