mucopolysaccharidosis type 4
MONDO:0018938Mondo
Findings
No curated finding names mucopolysaccharidosis type 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A lysosomal storage disease belonging to the group of mucopolysaccharidoses, and characterized by spondylo-epiphyso-metaphyseal dysplasia. It exists in two forms, A and B.
Definition from the Mondo Disease Ontology (MONDO:0018938), read 2026-09-29. CC BY 4.0.
Features
34 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal epiphysis morphologyHPOHP:0005930
- Very frequent (80% to 99% of cases)
- Abnormal metaphysis morphologyHPOHP:0000944
- Very frequent (80% to 99% of cases)
- Abnormal rib morphologyHPOHP:0000772
- Very frequent (80% to 99% of cases)
- Abnormality of the dentitionHPOHP:0000164
- Very frequent (80% to 99% of cases)
- Bowing of the long bonesHPOHP:0006487
- Very frequent (80% to 99% of cases)
- Corneal opacityHPOHP:0007957
- Very frequent (80% to 99% of cases)
- Delayed skeletal maturationHPOHP:0002750
- Very frequent (80% to 99% of cases)
- Gait disturbanceHPOHP:0001288
- Very frequent (80% to 99% of cases)
- Genu valgumHPOHP:0002857
- Very frequent (80% to 99% of cases)
- Hearing impairmentHPOHP:0000365
- Very frequent (80% to 99% of cases)
- Joint hypermobilityHPOHP:0001382
- Very frequent (80% to 99% of cases)
- MucopolysacchariduriaHPOHP:0008155
- Very frequent (80% to 99% of cases)
Show the remaining 22
- Pectus carinatumHPOHP:0000768
- Very frequent (80% to 99% of cases)
- Reduced bone mineral densityHPOHP:0004349
- Very frequent (80% to 99% of cases)
- Short neckHPOHP:0000470
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Short thoraxHPOHP:0010306
- Very frequent (80% to 99% of cases)
- Abnormal dental enamel morphologyHPOHP:0000682
- Frequent (30% to 79% of cases)
Where it sits
Other names
9 names
Resolves to: mucopolysaccharidosis type 4
- Also called
- eccentro-osteochondrodysplasiaeccentrochondrodysplasiaeccentroosteochondrodysplasiaMorquio diseaseMorquio syndromeMPS4MPSIVMucopolysaccharidosis IVmucopolysaccharidosis type IV