Conditions / Genetic
Schimke immuno-osseous dysplasia
info · Genetic
A spondyloepiphyseal dysplasia characterized by short stature with hyperpigmented macules, unusual facies, proteinuria with progressive renal failure, lymphopenia with recurrent infections, and cerebral ischaemia. It has_material_basis_in mutations in the SMAR
A spondyloepiphyseal dysplasia characterized by short stature with hyperpigmented macules, unusual facies, proteinuria with progressive renal failure, lymphopenia with recurrent infections, and cerebral ischaemia. It has_material_basis_in mutations in the SMARCAL1 gene.
Signs and symptoms
- Lumbar hyperlordosis
- Decreased total lymphocyte count
- Spondyloepiphyseal dysplasia
- Disproportionate short-trunk short stature
- Focal segmental glomerulosclerosis
- Global developmental delay
- Microdontia
- Macule
- Protuberant abdomen
- Bilateral cryptorchidism
Also known as: Schimke immunoosseous dysplasia; Schimke syndrome; immunoosseous dysplasia Schimke type; spondyloepiphyseal dysplasia - nephrotic syndrome