Mucopolysaccharidosis type Ⅷ

This type is also called Diferrante syndrome. It is characterized by short stature, mental retardation, thick and thick hair, large liver and multiple cartilage abnormalities. The cornea is normal and heparin sulfate is excreted in the urine. The disease is an autosomal recessive. The disease was found by Gilnsburg et al. (1977) to have a 5-year-old boy with the clinical characteristics of Morquio syndrome. The difference is that the cultured fibroblasts have (35) chondroitin sulfate accumulation and delayed elimination.

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