Disease Directory Morquio Syndrome
Metabolic

Morquio Syndrome

Also known as: MPS IV, mucopolysaccharidosis type IV, Morquio-Brailsford disease, Types A and B

Prevalence

1-9 per 100,000 (Orphanet)

Onset

Infantile, Childhood

Type

Autosomal recessive genetic

Gene

GALNS (A), GLB1 (B)

About Morquio Syndrome

Morquio syndrome (MPS IV) is characterized by severe skeletal dysplasia with normal intelligence, distinguishing it from other MPS disorders. MPS IVA (GALNS deficiency) is the most severe form, causing short stature, odontoid hypoplasia with cervical instability, joint laxity, and corneal clouding. MPS IVB is milder. Elosulfase alfa (Vimizim) is approved as ERT for MPS IVA, improving endurance and respiratory function.

Common Clinical Features

Severe short stature Odontoid hypoplasia and cervical instability Joint laxity and pain Pectus carinatum Corneal clouding Hearing loss Respiratory compromise

Clinical Trial Eligibility Tips

What to know before applying to Morquio Syndrome trials.

Cervical spine MRI/CT is required before enrollment in any Morquio trial due to high risk of cervical myelopathy

Elosulfase alfa (Vimizim) ERT is standard for MPS IVA — document prior ERT history and infusion-related reaction history

Six-minute walk test (6MWT) and pulmonary function tests are standard eligibility and outcome measures

MPS IVA versus MPS IVB must be confirmed by GALNS enzyme activity and/or GLB1 genotyping

Patient Resources

Patient Organization

National MPS Society

Visit website ↗

Natural History Registry

MPS Society Patient Registry

Join registry ↗

Orphanet

European reference resource for rare diseases (ORPHA:309297)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

Search NORD ↗

Find recruiting Morquio Syndrome trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Morquio Syndrome. Updated daily.

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