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Scheie syndrome - Symptom

Alternative Names

Mucopolysaccharidosis type I S; MPS I S

Symptoms:

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

Signs and tests:

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:

  • Reviewed last on: 7/1/2007
  • Brian Kirmse, MD, Mount Sinai School of Medicine, Department of HumanGenetics, New York, NY. Review provided by VeriMed Healthcare Network.
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