Table 2 Disease-related symptoms for MPS I and MPS III
| Disease-related symptoms | |
|---|---|
| Mucopolysaccharidosis type I | Mucopolysaccharidosis type III |
|
Hernias
• Inguinal hernia • Umbilical hernia |
Developmental delay or decline
• Neurocognitive functions • Motor functions |
|
Ear, nose, throat problems
• Frequent upper airway infections • Obstructive sleep apneas or excessive snoring during sleep • Tympanostomy tubes • Adenoidectomy • Tonsillectomy |
Behavioral problems
• Hyperactivity/restlessness • Aggression • Anxiety • Autistic behaviors • Other |
|
Gastro-intestinal problems
• Hepatosplenomegaly |
Dysmorphic features
• Coarse facial features • Coarse hair • Hirsutism • Other |
|
Cardiac problems
• Cardiomyopathy • Valvular dysfunction | |
|
Skeletal and joint problems
• Joint stiffness • Skeletal deformities • Kyphosis • Hip dysplasia • Bullet shaped metacarpals • Stunted growth of the long bones • Broad oar shaped ribs • Short stature • Carpal tunnel syndrome • Trigger fingers • Tendon shortening • Early arthrosis |
Ear, nose, throat problems
• Frequent upper airway infections • Frequent ear infections • Hearing problems • Tympanostomy tubes • Adenoidectomy • Tonsillectomy |
|
Gastro-intestinal problems
• Frequent diarrhea • Hepatomegaly • Other | |
| Hydrocephalus | Sleeping problems |
| Corneal clouding | Seizures |
|
Dysmorphic features
• Frontal bossing • Depressed nasal bridge • Full lips • Macroglossia |
Hernias
• Inguinal hernia • Umbilical hernia |
| Developmental delay | |