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