• | 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 Marfan’s, you pee down in homocystinuria)
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