Mucopolysaccharidosis type 7

What is Mucopolysaccharidosis type 7?

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.

Other condition names

  • Beta-glucuronidase deficiency
  • MPS7
  • Mucopolysaccharidosis type VII
  • Sly disease

Inheritance type

Autosomal recessive


  • Europe: <1 in 1,000 000

Age of Onset

  • Adolescent
  • Antenatal
  • Childhood
  • Infancy
  • Neonatal
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