Sanfilippo’s syndrome /san·fi·lip′ōz/ [Sylvester J. Sanfilippo, 20th-century American pediatrician] , four heterogeneous, biochemically distinct, but clinically indistinguishable, forms of mucopolysaccharidosis characterized biochemically by excretion of the mucopolysaccharide heparan sulfate in the urine and clinically by severe, rapid mental deterioration and relatively mild somatic symptoms. Onset is from 2 to 6 years of age; the head is large, height is normal, Hurler-like features are mild, and hirsutism is generalized; death usually occurs before 20 years of age. The four types are types A through D, each resulting from a different enzymatic defect.
