Sly Syndrome (MPS VII)

Mucopolysaccharidosis type VII (MPS VII) is a very rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. Less than 40 patients with neonatal to moderate presentation have been reported since the initial description of the disease by Sly in 1973. The clinical phenotype is extremely variable and similar to MPS I; it is characterized by facial dysmorphisms, skeletal deformities, cardiac and ocular involvement as well as delay in motor and intellectual development. The disease is caused by beta-D-glucuronidase deficiency, which leads to accumulation of several glycosaminoglycans (dermatan sulfate (DS), heparan sulfate (HS), and chondroitin sulfate (CS)) in lysosomes. (Source: Orphanet)

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