Mucopolysaccharidosis type IV with neurological involvement

Also known as: Morquio syndrome

Keratan sulfate storage with skeletal dysplasia.

Medical specialty: Neurology
Subspecialty: Neurology / Metabolic disease; Orthopedics
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, childhood
Gene(s) involved: GALNS, GLB1

Etiology & mechanism

GALNS or GLB1 mutations.

Gene(s) involved (2)

GALNSGLB1

Symptoms & signs (3)

cervical cord compressionshort statureskeletal dysplasia

Note

Primarily skeletal; verify

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