ORPHA:93474
Scheie syndrome
Also called MPS1S, MPSIS, Mucopolysaccharidosis type 1S, Mucopolysaccharidosis type IS
- Body system
- Bone diseases
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Adolescent, Adult, Childhood
- Estimated prevalence
- 1-9 / 1 000 000 (Canada)
- Rarity class
- 1-9 / 1 000 000
ORPHA:93474 is classified under "Bone diseases" in the Orphanet nomenclature.
Common signs
- Glaucoma
- Abnormality of the skeletal system
- Limitation of joint mobility
- Aortic regurgitation
- Corneal opacity
- Mucopolysacchariduria