Loeys Dietz syndrome
Loeys Dietz syndrome
An autosomal-dominant condition with features of Marfan syndrome—e.g., high risk of ascending aortic aneurysm and aortic dissection, abnormally long limbs and fingers, dural ectasia, abdominal and leg pain. Non-Marfanoid features include ocular hypertelorism, split uvula and dermal fragility (easy bruising or abnormal scars).Molecular pathology
Mutations in TGFBR1 or TGFBR2, the genes encoding transforming growth factor beta receptor 1 or 2.