Rare Zebra

Rare disease search prototype built on Orphanet data

← Back to search

ORPHA:93476

Hurler-Scheie syndrome

Also called MPS1H/S, MPSIH/S, Mucopolysaccharidosis type 1H/S, Mucopolysaccharidosis type IH/S

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

ORPHA:93476 is classified under "Bone diseases" in the Orphanet nomenclature.

Common signs

  • Coarse facial features
  • Limitation of joint mobility
  • Abnormal heart valve morphology
  • Splenomegaly
  • Hepatomegaly
  • Skeletal dysplasia