COL5A1 and congenital contractural arachnodactyly: Additional genetic findings that may be relevant to clinical phenotypes in this cohort include a paternally inherited variant of uncertain significance (VUS) in COL5A1 (MIM: 120215) (Ehlers-Danlos syndrome, classic type [MIM: 130000]) in individual 5, which may explain his arachnodactyly, pectus carinatum, kyphosis, and aortic dilatation.