This is a hereditable connective tissue disorder, which is an autosomal dominant and shares many features similar to Marfan syndrome. The genetic mutation has been found in genes encoding for transforming growth factor beta-receptor 1 (TGFBR1) or 2 (TGFBR2). The four main symptoms of the syndrome are: widely spaced eyes, bifid uvula, twisted arteries and aortic aneurysm. Patients must be followed carefully for an aortic root and ascending aneurysm and appropriate prophylactic surgery performed to avoid aortic complications.
For more information go to: Loey-Dietz Syndrome Foundation