Orphanet: Hurler syndrome

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Hurler syndrome

Disease definition

Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.


Classification level: Subtype of disorder
  • Synonym(s):
    • Hurler disease
    • MPS1H
    • MPSIH
    • Mucopolysaccharidosis type 1H
    • Mucopolysaccharidosis type IH
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E76.0
  • OMIM: 607014
  • UMLS: C0086795
  • MeSH: -
  • GARD: 12559
  • MedDRA: -

Detailed information


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