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Sanfilippo syndrome |
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Sanfilippo syndrome Alpha-N-acetylglucosaminidase deficiency, mucopolysaccharidosis type III A common AR Tay-Sachs-like disease of late infant onset Clinical Coarse facies, ↓ mental development progressing to severe retardation, stiff
joints, gait disturbances, speech disturbances, behavioral problems,↑ startle reflex, early blindness, doll-like facies, mental and physical deterioration, cherry red spots on retina, macrocephaly; cornea is clear; survival is longer than with
Tay-Sachs, often to age 20+. See Hurler syndrome, Mucopolysaccharidosis. How to thank TFD for its existence? Tell a friend about us, add a link to this page, add the site to iGoogle, or visit webmaster's page for free fun content. |
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