Sunday, February, 12, 2012

Scheie syndrome

Table of Contents

Alternative Names

Mucopolysaccharidosis type I S; MPS I S


Symptoms

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

Signs 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

Review Date: 05/15/2011
Reviewed By: Chad Haldeman-Englert, MD, Wake Forest School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org)