Variants in FBN1 cause a wide range of autosomal dominant heritable connective tissue disorders, including Marfan syndrome (MFS; OMIM 154700), mitral valve–aorta–skeleton–skin syndrome (MASS syndrome; OMIM 604308), Marfan lipodystrophy syndrome (OMIM 616914), isolated autosomal dominant ectopia lentis (OMIM 129600), Weill–Marchesani syndrome type 2 (OMIM 608328), acromicric dysplasia (OMIM 102370), geleophysic dysplasia type 2 (OMIM 614185), stiff skin syndrome (OMIM 184900), and autosomal dominant thoracic aortic aneurysms and dissections [3]. Here, FBN1 is linked to MASS syndrome.