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Diseases

Genetic and Rare Diseases Information Center (GARD)

Schimke immunoosseous dysplasia


Other Names for this Disease
  • Spondyloepiphyseal dysplasia nephrotic syndrome
  • Schimke syndrome
  • Immunoosseous dysplasia, schimke type
  • SIOD
  • Schimke immuno-osseous dysplasia
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Tests & Diagnosis

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How is Schimke immunoosseous dysplasia diagnosed?

The diagnosis of SIOD is made on clinical findings.  The most definitive diagnostic findings are skeletal dysplasia (spondyloepiphyseal dysplasia), renal dysfunction (urinary protein loss), T lymphocyte deficiency, characteristic facial features, and hyperpigmented macules.  DNA testing for mutations in SMARCAL1 is available on a clinical basis.
Last updated: 10/20/2010


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Other Names for this Disease
  • Spondyloepiphyseal dysplasia nephrotic syndrome
  • Schimke syndrome
  • Immunoosseous dysplasia, schimke type
  • SIOD
  • Schimke immuno-osseous dysplasia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.