Scheie syndrome

Alternative names:

mucopolysaccharidosis (type 1 - 5)

Definition:

Scheie syndrome is one of a number of heritable mucopolysaccharide storage diseases and is characterized by the absence of the enzyme a-L-iduronidase and the excretion of increased levels of dermatan sulfate in the urine.

Causes, incidence, and risk factors:

Scheie syndrome is transmitted as an autosomal recessive trait. 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.