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