COL2A1 and connective tissue disorder: For example, patient no. 11 with a VUS in the COL2A1 gene exhibited multiple marfanoid features (arachnodactyly, striae, joint hypermobility, skin laxity, high-arched palate), including a Ghent score of 7, suggesting a clinically significant connective tissue disorder, which was previously described in TS and marfanoid habitus by Demal et al. [30].