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.