Mehtap AKBALIK KARA, Beltinge DEMİRCİOĞLU KILIÇ, Mithat BÜYÜKÇELİK, Ayşe BALAT
Balkan Medical Journal - 2026;43(4):218-221
Schimke immuno-osseous dysplasia (SIOD) was first described by Schimke in 1971. It is a rare, autosomal recessive multisystem disorder characterized by facial dysmorphism, spondylo-epiphyseal dysplasia (SED), T-cell immunodeficiency, and nephrotic syndrome (NS). Although the exact prevalence is unknown, it is estimated to range from 1:1,000,000 to 1:3,000,000 live births.
