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Sanfilippo syndrome
(redirected from Sanfilippo disease)

   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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The couple have been using Acorns' services for the past 10 years for 15-year-old Faye, who has the rare Sanfilippo disease that affects her mobility and speech and requires care around the clock.
He suffers from a rare genetic disorder called Sanfilippo Disease and requires 24-hour care, Sanfilippo, which affects one in 85, 000 births, is classed as an MPS disease -- Mucopolysaccharide -- for which there is no cure.
Almost pounds 200 went to Luke Chapman, three, who suffers from Sanfilippo Disease, a degenerative condition, to help pay for a ramp at his Hartlepool home.
 
 
 
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