Causative genes include autosomal polycystic kidney disease (PKD1, PKD2), Ehlers–Danlos syndrome (COL3A1), Marfan syndrome (FBN1), Loeys–Dietz syndrome (TGFB2, TGFB3, TGFBR1, TGFBR2, SMAD2, SMAD3), and Majewski Osteodysplastic Primordial Dwarfism (PCNT) [23]. The gene discussed is TGFBR1; the disease is Marfan syndrome.