Loeys-Dietz Syndrome Type II shows a number of phenotypic features which can help to identify affected patients.
Genetic defect: mutations in transforming growth factor (TGF)-beta receptor 2 (TGFBR2)
Inheritance: autosomal dominant or de novo mutation
Clinical findings:
(1) bifid uvula
(2) arterial tortuosity with aneurysms at the aortic root or of other arteries, aortic dilatation and/or aortic dissection
(3) splenic rupture
(4) bowel rupture
(5) inguinal hernia
(6) velvety and/or translucent skin
(7) easy bruisability
(8) skin hyperextensibility
(9) atrophic scars
(10) joint laxity
Additional findings in women:
(1) vascular rupture during pregnancy
(2) uterine rupture
(3) uterine hemorrhage
Differential diagnosis:
(1) vascular form of Ehlers-Danlos syndrome (with abnormalities of Type III collagen)
