Mucopolysaccharidosis type I S; MPS I S
Symptoms may not appear until age 4 or 5, and may include:
A physical exam may show signs of:
An eye exam will show cloudy corneas and retinal pigmentation.
Urine tests will be done. Persons with Scheie syndrome have increased amounts of dermatan and heparan sulfate in their urine. See: Urine dermatan sulfate
Other tests may include:
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