Scheie syndrome exhibits the same enzyme defect as Hurler syndrome but appears to be specific for dermatan sulfate only. It is the mildest form of mucopolysaccharide storage disease. Symptoms may not appear until 4 or 5 years of age.
Normal mentality is maintained.
Clinical features are joint limitations, inguinal hernias, a broad mouth with full lips, and clouding of the cornea that occurs early. Affected children also develop juvenile onset of stiff joints, with development of claw hands and deformed feet. As in Morquio syndrome , affected people may develop problems with the aortic valve. The information provided herein should not be used for diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions.