Scheie syndrome
Alternative Names
Mucopolysaccharidosis type I S; MPS I SSymptoms
Symptoms may not appear until age 4 or 5, and may include:
- Coarsened facial features
- Increased body hair (hirsutism)
- Broad mouth with full lips
- Cloudy cornea and progressive loss of vision, resulting in blindness
- Prognathism
- Stiff joints
- Claw hands and deformed feet
Exams and Tests
A physical exam may show signs of:
- Aortic regurgitation
- Hearing loss
- Hernias -- inguinal hernia, umbilical hernia
- Liver swelling
- Prognathism
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:
- Blood culture
- Culture of skin fibroblasts
- Echocardiogram
- X-ray of the skeleton
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