Understanding MPS VII

A multisystemic, progressive, chronic genetic disease1-3

MPS VII is one of the rarest types of mucopolysaccharidoses2-4

Mucopolysaccharidosis VII (MPS VII), also called Sly syndrome, is a genetic metabolic disorder caused by a deficiency of the lysosomal enzyme β-glucuronidase.1,2

MPS VII is a heterogeneous and progressive disease. It requires early diagnosis for the best management and treatment outcomes.1,5

Signs and symptoms can involve multiple systems3,4,6

Child Silhoutte
Ear, nose and throat


Learn about the relationship between MPS VII and non-immune hydrops fetalis (NIHF)

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References: 1. Mucopolysaccharidosis type VII. National Institutes of Health Genetics Home Reference website. https://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-vii. Accessed August 14, 2018. 2. Muenzer J. Overview of the mucopolysaccharidoses. Rheumatology (Oxford). 2011;50(suppl 5):v4-v12. 3. Montaño AM, Lock-Hock N, Steiner RD, et al. Clinical course of sly syndrome (mucopolysaccharidosis type VII). J Med Genet. 2016;53(6):403-418. 4. National MPS Society. A Guide to Understanding MPS. Durham, NC: National MPS Society. https://mpssociety.org/cms/wp-content/uploads/2017/04/MPS_VII_2008.pdf. Accessed August 14, 2018. 5. Lehman TJA, Miller N, Norquist B, Underhill L, Keutzer J. Diagnosis of the mucopolysaccharidoses. Rheumatology (Oxford). 2011;50(suppl 5):v41-v48. 6. Cimaz R, Coppa GV, Koné-Paut I, et al. Joint contractures in the absence of inflammation may indicate mucopolysaccharidosis. Pediatr Rheumatol Online J. 2009;7:18.