Loeys-Dietz Syndrome
A rare autosomal dominant syndrome caused by mutations in the TGFBR1 or TGFBR2 genes. It is 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. [ ]
Term info
Loeys-Dietz Syndrome
- Loeys-Dietz Syndrome
Loeys_Dietz_Syndrome
Loeys-Dietz Syndrome
Disease or Syndrome
C2697932
C75006