Skip to main content

Table 1 Panel of clinical symptoms in patients with Hunter syndrome (n = 228)

From: Analysis of long-term observations of the large group of Russian patients with Hunter syndrome (mucopolysaccharidosis type II)

Clinical symptoms Number of criteria, %
Changes in facial features by «gargoylism» type 100
Short stature 95
Skeletal anomalies (dysostosis multiplex) 100
Pathologies of the cardiovascular system 100
 Cardiomyopathy 35
 Anomalies of the heart valves 100
 Narrowing of coronary arteries 10
 Rhythm disturbance 20
Obstructive conditions of the respiratory tract 100
 Obstructive sleep apnea 55
 Decrease in lung capacity 100
Hepatosplenomegaly 100
Stiffness of major and small joints 100
Umbilical or inguinal and inguinal-scrotal hernia 83
Papular eruption on the skin 5
Retinitis pigmentosa 5
Progressive conductive or neurosensory hearing loss 85
Impairments of the nervous system 85
 Mental retardation 75
 Tonic–clonic convulsions 55