Infiltration of heart valves and liver with mucopolysaccharide-like substance has been demonstrated in some patients. Mild developmental delay is associated in some cases, but speech retardation may be attributed to hearing problems.
Psychomotor retardation is an occasional feature.
Chronic otitis media and tightly folded ears. Short and upward slanting palpebral fissures, apparent hypertelorism, thick eyebrows, and long eyelashes. Cardiomegaly, atrial septal defect, aortic valve insufficiency, pulmonary valve stenosis, mitral valve stenosis, aortic regurgitation, ventricular hypertrophy, and cardiac failure. A glycoprotein metabolism disorder with infiltration of cardiac valves, trachea, and liver with a mucopolysaccharide-like substance, the nature of which has not been yet established.