By Disease Name > Marfan syndrome

Marfan syndrome

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autosomal dominant; one of the more common inherited diseases (1/10,000)
= any one of a variety of defects in the fibrillin gene
affects skin, eyes, and cardiovascular system (like PXE)
skin - striae are common
eyes - ectopia lentis (upward) (vs. homocystinuria = downward)    
mnemonic = displaced upward, like the high-arched palate
think of together:  Marfan syndrome and homocystinuria (overlapping features)
cardiovascular - ascending aortic aneurysm (+/- dissection) and mitral valve prolapse are commonly seen
“pectus excavatum”, joint hyper-extensibility, excessive limb length, high-arched palate

 

 

ectopia lentis: homocystinuria downward dislocation;  Marfan syndrome upward dislocation (mnemonic:  arched palate and lens both move up in Marfans, you pee down in homocystinuria)