How to diagnose Schimke immunoosseous dysplasia ?
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.