ACC/AHA Pediatric and Congenital Cardiology EHR Terminology SMAD3 Gene TGFBR2 Gene TGFB3 Gene SMAD2 Gene TGFB2 Gene TGFBR1 Gene Syndrome Rare Non-Neoplastic Disorder Loeys-Dietz Syndrome Loeys-Dietz Syndrome Loeys_Dietz_Syndrome Loeys-Dietz Syndrome ACC/AHA Disease or Syndrome Loeys-Dietz syndrome A genetic syndrome characterized by a rare autosomal dominant syndrome caused by mutations in the TGFBR1 or TGFBR2 genes. It is characterized by aortic dilation and dissection, vascular tortuosity, hypertelorism, bifid uvula, scoliosis, and pectus deformities. A genetically heterogenous syndrome characterized by vascular abnormalities including aortic and arterial aneurysms, aortic dissection, and tortuosity of the arteries. Other findings include scoliosis, long fingers, and joint hypermobility. Patients with TGFBR1 gene mutations also exhibit hypertelorism, bifid uvula, and early fusion of the skull bones. C75006 C2697932