Schimke immunoosseous dysplasia
Other Names for this Disease
- Spondyloepiphyseal dysplasia nephrotic syndrome
- Schimke syndrome
- Immunoosseous dysplasia, schimke type
Tests & Diagnosis
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
- 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.