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Mucopolysaccharidosis type 7

Disease definition

A rare, genetic lysosomal storage disease characterized by accumulation of glycosaminoglycans in connective tissue which results in progressive multisystem involvement with severity ranging from mild to severe. The most consistent features include musculoskeletal involvement (particularly dysostosis multiplex, joint restriction, thorax abnormalities, and short stature), limited vocabulary, intellectual disability, coarse facies with a short neck, pulmonary involvement (predominantly decreased pulmonary function), corneal clouding, and cardiac valve disease.


Classification level: Disorder
  • Synonym(s):
    • Beta-glucuronidase deficiency
    • MPS7
    • MPSVII
    • Mucopolysaccharidosis type VII
    • Sly disease
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Antenatal, Neonatal, Childhood, Infancy, Adolescent
  • ICD-10: E76.2
  • OMIM: 253220
  • UMLS: C0085132
  • MeSH: D016538
  • GARD: 7096
  • MedDRA: 10056893

Detailed information


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