schimke immuno osseous dysplasia is an autosomal recessive multisystem disorder caused by defects in swi snf related matrix associated actin dependent regulator of chromatin subfamily a like 1 gene smarcal1 smarcal1 product is a helicase that has role in selective cellular proliferation the disorder is characterized by spondyloepiphyseal dysplasia with short stature nephropathy t cell deficiency neurologic and cutaneous signs patients may have hyperpigmented skin lesions similar to café au lait spots symptoms and disease severity in schimke immuno osseous dysplasia varies from patient to patient genetic epigenetic and environmental factors play role on the severity of the disease here we report on a patient with short stature steroid resistant nephrotic syndrome and recurrent infections cutaneous findings and developmental delay helped us to reach the diagnosis of schimke immuno osseous dysplasia a homozygous missense mutation in smarcal1 gene confirmed the clinical diagnosis.