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