Schimke immuno-osseous dysplasia (
SIOD; MIM 242900) is a multi-system syndrome with autosomal recessive inheritance caused by a rare mutation in chromatin remodeling protein (SMARCAL 1) characterized by disproportional short stature with truncal shortness due to spondyloepiphysial dysplasia, steroid resistant nephrotic syndrome progressing to end stage renal failure (ESRD), recurrent infections caused by cellular immune deficiency and typical phenotypic characteristics (1,2).