SMAD4 and Loeys-Dietz syndrome: Besides JPS and GI cancers, BMPR1A is also associated with HMPS, polyposis, superior coloboma, and CHD, while SMAD4 is also associated with HHT, Myhre syndrome, Loeys-Dietz syndrome, cholangiocarcinoma, and thoracic aortic aneurysms and aortic dissections.