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.
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She is fundraising on behalf of her son Harrison, who suffers from a rare condition called Loeys Dietz Syndrome, which affects connective tissues throughout the body.