Schimke immuno-osseous dysplasia
Schimke immuno-osseous dysplasia
Definition
A multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.
Also known as Schimke immuno-osseous dysplasia, Schimke immunoosseous dysplasia, Schimke syndrome, spondyloepiphyseal dysplasia - nephrotic syndrome, spondyloepiphyseal dysplasia-nephrotic syndrome — per MONDO