Orphanet: Hurler Scheie syndrome

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Hurler-Scheie syndrome

Disease definition

Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.


Classification level: Subtype of disorder
  • Synonym(s):
    • MPS1H/S
    • MPSIH/S
    • Mucopolysaccharidosis type 1H/S
    • Mucopolysaccharidosis type IH/S
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E76.0
  • OMIM: 607015
  • UMLS: C0086431
  • MeSH: -
  • GARD: 12560
  • MedDRA: 10056916

Detailed information


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