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Table 2 Disease-related symptoms for MPS I and MPS III

From: Failure to shorten the diagnostic delay in two ultra-orphan diseases (mucopolysaccharidosis types I and III): potential causes and implications

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