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