Schimke immunoosseous dysplasia
Overview
Schimke immunoosseous dysplasia (SIOD) is characterized by spondyloepiphyseal dysplasia (SED) resulting in disproportionate short stature, nephropathy, and T-cell deficiency. Radiographic manifestations of SED include ovoid and mildly flattened vertebral bodies, small deformed capital femoral epiphyses, and shallow dysplastic acetabular fossae. Adult height is 136-157 cm for men and 98.5-143 cm for women. All affected individuals have progressive steroid-resistant nephropathy, usually developing within five years of the diagnosis of growth failure and terminating with end-stage renal disease (ESRD). All tested individuals have T-cell deficiency and associated risk for opportunistic infection, a common cause of death. SIOD involves a spectrum that ranges from an infantile or severe early-onset form with death early in life to a juvenile or milder later-onset form with survival into adulthood if renal disease is appropriately treated.
Diagnosis
SIOD is diagnosed on the basis of clinical findings. SMARCAL1 is the only gene known to be associated with SIOD. Molecular genetic testing of SMARCAL1 is available on a research basis only.
Treatment
These resources address the management of Schimke immuno-osseous dysplasia and may include treatment providers. * Gene Review: Schimke Immunoosseous DysplasiaThis link leads to a site outside Genetics Home Reference. You might also find information on treatment of Schimke immuno-osseous dysplasia in Educational resources and Patient support.