Table 2. Recognition of mucopolysaccharidosis (MPS).
Clinical features | MPS I | MPS II | MPS III | MPS IV | MPS VI | MPS VII | MPS IX |
---|---|---|---|---|---|---|---|
Coarse facial features | + | + | -/+ | -/+ | + | + | -/? |
Cognitive retardation | -/+ | -/+ | + | - | -/? | + | - |
Epilepsy | + | + | + | + | + | - | - |
Hepatosplenomegaly | + | + | + | -/+ | + | + | - |
Valve disease | + | + | + | + | + | + | - |
Inguinal and umbilical hernias | + | + | + | + | + | + | - |
Corneal clouding | + | + | + | + | + | + | - |
Short stature | + | + | -/? | + | + | + | + |
Kyphoscoliosis | + | + | + | + | + | + | - |
Joints stiffness | + | + | -/? | - | + | + | + |
Hearing loss | + | + | + | + | + | + | -/? |
Teeth abnormalities | + | + | + | + | + | + | - |
Enlarged tongue | + | + | + | + | + | + | - |
Hydrops fetalis | - | - | - | - | - | + | - |
+: positive; -: negative; -/+: normal or positive; -/?: negative but suspicious in some cases.