Rare Zebra

Rare disease search prototype built on Orphanet data

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ORPHA:579

Mucopolysaccharidosis type 1

Also called Alpha-L-iduronidase deficiency, MPS1, MPSI, Mucopolysaccharidosis type I

Body system
Bone diseases
Inheritance pattern
Autosomal recessive
Typical age of onset
All ages
Estimated prevalence
1-9 / 100 000 (Netherlands)
Rarity class
1-9 / 100 000

ORPHA:579 is classified under "Bone diseases" in the Orphanet nomenclature.

Common signs

  • Hernia
  • Inguinal hernia
  • Sinusitis
  • Coarse facial features
  • Chronic otitis media
  • Abnormal metaphysis morphology