Morquio syndrome

Also known as: Mucopolysaccharidosis type IV

Lysosomal storage disease with skeletal dysplasia.

Medical specialty: Pediatrics
Subspecialty: Pediatrics / Pediatric metabolism
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes, onset 1–3 years
Gene(s) involved: GALNS, GLB1

Etiology & mechanism

Deficiency of GALNS or beta-galactosidase.

Gene(s) involved (2)

GALNSGLB1

Symptoms & signs (6)

corneal cloudinggenu valgumnormal intelligenceodontoid hypoplasiapectus carinatumshort trunk dwarfism

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