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 | |