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 |