Symptoms & Signs
Symptoms may not appear until age 4 or 5, and may include:
- Broad mouth with full lips
- Claw hands and deformed feet
- Cloudy cornea and progressive loss of vision, resulting in blindness
- Coarsened facial features
- Increased body hair (hirsutism)
- Prognathism
- Stiff joints
Diagnosis & 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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Scheie syndrome : Overview, Causes, & Risk Factors
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Scheie syndrome : Symptoms & Signs, Diagnosis & Tests
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Scheie syndrome : Treatment
Review Date : 5/11/2009
Reviewed By : Diana Chambers, MS, EdD, Certified Genetics Counselor (ABMG), Charter Member of the American Board of Genetic Counseling, University of Tennessee, Memphis, TN. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
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