Sanfilippo-good syndrome (heparitinuria; mucopolysaccharidosis iii; mps iii) 1

General: Autosomal recessive; excess urinary excretion of heparitin sulfate (see Hunter Syndrome; Hurle 313j94d r Syndrome; Maroteaux-Lamy Syndrome; Morquio Syndrome; Scheie Syndrome). Lack of a β-galactosaminidase-like enzyme causing accumulation of glycolipids, acid mucopolysaccharides, and their precursors; both sexes affected; death occurs by second decade in the majority of cases; autosomal recessive; divided into type A (with decreased levels of heparan sulfatase) and type B (with decreased levels of N-acetyl-α-D-glucosaminidase).

Ocular: Night blindness; slight narrowing of retinal vessels; pigment deposits in the fundi; bushy eyebrows; coarse eyelashes; acid mucopolysaccharide deposits in cornea, iris, lens, and sclera; retinal degeneration; optic nerve atrophy.

Clinical: Mental deficiency progressing to severe degrees within a few years; seizures; gargoyle features very mild; dwarfism; stiff joints; hepatosplenomegaly; hirsutism; mitral valve insufficiency.

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