TARP syndrome was named for the initial constellation of findings (talipes equinovarus, atrial septal defect, Robin sequence, and persistent left superior vena cava) in affected boys in a family described by Gorlin et al. in 1970. Johnston et al. identified RBM10 loss-of-function variants in two extended families with multiple affected male infants who passed away perinatally. More recent reports, generally based on detection of pathogenic RBM10 variants in individuals who may be lacking some or all of the classic findings, have described greater phenotypic diversity including affected individuals living with TARP syndrome as a chronic condition in late childhood and even adulthood.
RBM10