ACC/AHA Pediatric and Congenital Cardiology EHR Terminology
Syndrome
Rare Non-Neoplastic Disorder
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.
ACC/AHA
C2697932
C75006
Disease or Syndrome
Loeys-Dietz Syndrome
Loeys-Dietz Syndrome
Loeys-Dietz syndrome
Loeys_Dietz_Syndrome