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Sanfilippo syndrome
(redirected from Sanfilippo)

   Also found in: Wikipedia 0.01 sec.
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.


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Angela Sanfilippo began her career as an advocate for fishing and fishing families in 1977 when she answered a call from the Gloucester fishing community to translate important materials from English to Italian for Gloucester fishermen.
Her daughter Jade, 10, has Sanfilippo syndrome - a rare enzyme deficiency which eventually leaves its victims wheelchair-bound and prone to seizures.
Caitlin Powell, aged two from West Heath, suffers from Sanfilippo Syndrome, a regressive condition with no known cure.
 
 
 
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