mucopolysaccharidosis IX

A mucopolysaccharidosis characterized by a deficiency in hyaluronidase.

Signs and symptoms

• Submucous cleft hard palate
• Short stature
• Bifid uvula
• Knee pain
• Depressed nasal bridge
• Diminished circulating hyaluronidase activity
• Popliteal synovial cyst
• Synovitis
• Acetabular erosions
• Recurrent otitis media