Sanfilippo syndrome means: Sanfilippo syndrome is the most prevalent disorder in mucopolysaccharide metabolic. It occurs when there are mild facial abnormalities, normal clear corneas and mild stiffening. There can also be mild cognitive deterioration and severe mental retardation. Sanfilippo syndrome, which is biochemically defined as excessive excretion and accumulation of heparan Sulfate and mucopolysaccharides within the central nervous and other tissues, can be described on a biochemical basis. There are four kinds of Sanfilippo syndrome: A, B and C. Each type is caused by a deficiency in a specific enzyme. Each of the four types can be inherited in an autosomal-recessive fashion and all result in identical clinical disorders. Also known as mucopolysaccharidosis type III MPS III.
(in Medical Dictionary)
