Scheie syndrome

Also known as: attenuated MPS I; MPS I S

Attenuated MPS I with corneal clouding and joint stiffness.

Medical specialty: Pediatrics
Subspecialty: Pediatrics / Pediatric metabolism
Sex & age distribution: Male: affected; Female: affected; Children: yes, onset after age 5
Gene(s) involved: IDUA

Etiology & mechanism

Partial IDUA deficiency.

Gene(s) involved (1)

IDUA

Symptoms & signs (5)

aortic valve diseasecarpal tunnel syndromecorneal cloudingjoint stiffnessnormal intelligence

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.