Hurler–Scheie syndrome

Also known as: MPS I H/S

Intermediate MPS I.

Medical specialty: Genetics
Subspecialty: Metabolic / Lysosomal storage
Sex & age distribution: Male: affected; Female: affected; Children: yes
Gene(s) involved: IDUA

Etiology & mechanism

Partial IDUA deficiency.

Gene(s) involved (1)

IDUA

Symptoms & signs (4)

coarse faciescorneal cloudingjoint stiffnessvalve disease

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