Sanfilippo's syndrome

(Sylvester J. Sanfilippo, 20th century, American paediatrician), a group of diseases (types A, B, C and D) that constitute type III mucopolysaccharidosis. In all of these disorders a deficiency of lysosomal enzymes involved in the degradation of heparan sulfate is present. Among the features of this syndrome are limitation of joint motion, hepatosplenomegaly and a mild gibbus deformity.

DR