Home Marfan Syndrome

Marfan Syndrome

Defining Characteristics

Extremely tall (arm span longer than height), long fingers, dilated aortic root, ectopia lentis-dislocated lens, pectus carinatum OR pectus excavatum

Disease Development

Connective tissue disorder caused by missense mutations in FBN-1 gene on q15, disrupting TGF-B-fibrillin complex and increasing amount of active TGF-B

Potential Causes

Abnl Fibrillin protein


Clinical exam tests? Walker Murdoch wrist sign, Steinberg thumb sign

Conventional Treatment

Currently testing use of angiotensin II type I receptor antagonist (Losartan)