Rare Zebra

Rare disease search prototype built on Orphanet data

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ORPHA:583

Mucopolysaccharidosis type 6

Also called ARSB deficiency, ASB deficiency, Arylsulfatase B deficiency, MPS6, MPSVI, Maroteaux-Lamy disease, Mucopolysaccharidosis type VI, N-acetylgalactosamine 4-sulfatase deficiency

Body system
Bone diseases
Inheritance pattern
Autosomal recessive
Typical age of onset
Adolescent, Childhood, Infancy, Neonatal
Estimated prevalence
1-9 / 1 000 000 (Europe)
Rarity class
1-9 / 1 000 000

ORPHA:583 is classified under "Bone diseases" in the Orphanet nomenclature.

Common signs

  • Thick nasal alae
  • Thick lower lip vermilion
  • Sinusitis
  • Coarse facial features
  • Chronic otitis media
  • Abnormal metaphysis morphology