Schimke immuno-osseous dysplasia

Schimke immuno-osseous dysplasia is a rare multisystem disorder that affects several parts of the body. People with this condition often have issues with their bones and growth, resulting in spondyloepiphyseal dysplasia and disproportionate short stature. In addition, affected individuals may have distinct facial features and problems with their immune system, particularly T-cell immunodeficiency. Kidney problems are also a part of this condition, arising as glomerulonephritis with features of nephrotic syndrome. The condition involves multiple body systems, making its presentation complex. While the exact inheritance pattern is tied to genetic factors, the disease has been linked to mutations in the SMARCAL1 gene. This summary is based on trusted sources such as the definition provided, OMIM, Orphanet, and GARD identifiers.

Common symptoms of Schimke immuno-osseous dysplasia include short stature that is out of proportion to body size, abnormal development of the spine and bone ends (spondyloepiphyseal dysplasia), and facial dysmorphism. People with this condition might also experience T-cell immunodeficiency, which makes them more prone to infections, and kidney issues such as glomerulonephritis and nephrotic syndrome that affect normal kidney function.

Schimke immuno-osseous dysplasia is caused by changes in the SMARCAL1 gene. These genetic mutations affect the normal development and functioning of several body systems including the bones, immune system, and kidneys. The connection to this gene helps explain the multiple symptoms experienced by people with the condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.