Nijmegen breakage syndrome

Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.

Bird-like facies



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PMID (PMCID)
11427422
 MALE Child
Role of Nijmegen breakage syndrome protein in specific T-lymphocyte activation pathways.
Garcia-Perez MA, Allende LM, Corell A, Paz-Artal E, Varela P, Lopez-Goyanes A, Garcia-Martin F, Vazquez R, Sotoca A, Arnaiz-Villena A.
Clin Diagn Lab Immunol. 2001;8(4):757-61.
Nijmegen breakage syndrome (NBS) is a genetic disorder characterized by immunodeficiency, microcephaly, and "bird-like" facies.