Maroteaux–Lamy syndrome

Also known as: Mucopolysaccharidosis type VI

Lysosomal storage disease with valve thickening and normal intelligence.

Medical specialty: Cardiology
Subspecialty: Cardiology / Genetic cardiology
Sex & age distribution: Male: affected; Female: affected equally; Children: yes
Gene(s) involved: ARSB

Etiology & mechanism

ARSB deficiency.

Gene(s) involved (1)

ARSB

Symptoms & signs (6)

corneal cloudinghepatosplenomegalyjoint stiffnessnormal intelligenceshort staturevalve thickening

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