Germline pathogenic variants in TGFBR2 have been reported to underlie Loeys-Dietz syndrome, an autosomal dominant Marfan syndrome-like connective tissue disorder characterized by hypertelorism, cleft palate with bifid uvula, joint laxity, scoliosis and arachnodactyly, translucent and easily bruised skin, and severe aortic aneurysms [10]. This evidence concerns the gene TGFBR2 and connective tissue disorder.