Scheie syndrome : Symptoms, Diagnosis & Tests (Mucopolysaccharidosis type I S, MPS I S)

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You are here : AllRefer.com > Health > Diseases & Conditions > Scheie syndrome : Symptoms, Diagnosis & Tests

Scheie syndrome

Alternate Names : Mucopolysaccharidosis type I S, MPS I S

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 : Definition
Scheie syndrome : Overview, Causes, & Risk Factors
Scheie syndrome : Symptoms & Signs
Scheie syndrome : Diagnosis & Tests
Scheie syndrome : Treatment
Scheie syndrome : Support Groups
Scheie syndrome : Prognosis (Expectations)
Scheie syndrome : Complications
Scheie syndrome : Calling Your Health Care Provider
Scheie syndrome : Prevention

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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