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

Gé-Ann Kuiper; Olga L. M. Meijer; Eveline J. Langereis; Frits A. Wijburg

doi:10.1186/s13023-017-0733-y

Orphanet Journal of Rare Diseases

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	Hernias • Inguinal hernia • Umbilical hernia

Back to article page