Scheie syndrome; mucopolysaccharidosis-1s; MPS1s

Genetics

alpha-L-iduronidase deficiency

Clinical manifestations

• onset after 5 years
• near normal height
• corneal clouding
• aortic valvular lesions (aortic insufficiency)
• finger stiffness
• peculiar facies
• normal intelligence

Laboratory

• IDUA gene mutation

Prognosis: life expectancy: normal

More general terms

• Hurler-Scheie syndrome

Additional terms

• Hurler syndrome; mucopolysaccharidosis-1h; MPS1h