DescriptionA connective tissue disorder with features similar to those of Marfan syndrome. Common featuress include increased risk of ascending aortic aneurysm and aortic dissection, and abnormally long limbs and fingers. Additional features include widely spaced eyes, a split uvula in the back of the throat, and findings such as easy bruising and scars. Inheritance is autosomal dominant.
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We thank Professor Juan Yara for information submitted.