RAD51‐Related Fanconi Anemia: Expanding the Phenotypic Spectrum and Strong Association With VACTERL

Fanconi anemia (FA) is a multiorgan disease caused by pathogenic variants in genes involved in the FA/BRCA DNA repair pathway. We report a 10‐year‐old female who presented with multiple congenital anomalies consistent with VACTERL ( V ertebral anomalies, A nal atresia, C ardiac anomalies, T racheoesophageal fistula, E sophageal/duodenal atresia, and R enal and L imb anomalies) and PHENOS (abnormal P igmentation, small H ead, small E yes, central N ervous system anomalies, O tological anomalies, short S tature), and later exhibited global developmental delay. She tested positive for a de novo likely pathogenic variant in RAD51 and had inconclusive chromosomal breakage studies. This case provides evidence for a common association between RAD51 ‐related FA and VACTERL and expands its genotypic and phenotypic spectra.