ORPHA:93473
Hurler syndrome
Also called Hurler disease, MPS1H, MPSIH, Mucopolysaccharidosis type 1H, Mucopolysaccharidosis type IH
- Body system
- Bone diseases
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Infancy, Neonatal
- Estimated prevalence
- 1-9 / 1 000 000 (Germany)
- Rarity class
- 1-9 / 1 000 000
ORPHA:93473 is classified under "Bone diseases" in the Orphanet nomenclature.
Common signs
- Coarse facial features
- Full cheeks
- Wide nasal bridge
- Anteverted nares
- Short neck
- Thick eyebrow