Pathogenic variants identified in FBN2 assemble in a restricted domain similar to where severe MFS pathogenic variants assemble in FBN1, mostly between exons 23 and 32 [14], a region that encodes the cbEGF-like domains, and may occur throughout the gene with a greater number of these pathogenic variants associated with CCA. Here, FBN2 is linked to congenital contractural arachnodactyly.