Spondyloepiphyseal dysplasia nephrotic syndrome

Common Name(s)

Spondyloepiphyseal dysplasia nephrotic syndrome, Schimke immunoosseous dysplasia

Schimke immunoosseous dysplasia (SIOD) is a condition characterized by short stature, kidney disease, and a weakened immune system.   Growth failure is often the first sign of this condition.  Other features are usually detected in the evaluation for growth failure or in the following years.  The severity of SIOD ranges from an infantile or severe early-onset form to a juvenile or milder late-onset form.  Complications of the severe form of SIOD can include strokes, severe opportunistic infections, bone marrow failure, and kidney failure that can be life-threatening early in life. People with milder disease have survived to adulthood if their kidney disease is managed. This condition is inherited in an autosomal recessive pattern.  Mutations in the SMARCAL1 gene increase the risk to develop Schimke immunoosseous dysplasia.  However, in order for people with SMARCAL1 gene mutations to develop symptoms of Schimke immunoosseous dysplasia, other currently unknown genetic or environmental factors must also be present. 
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Spondyloepiphyseal dysplasia nephrotic syndrome" for support, advocacy or research.

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Scientific Literature

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Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Spondyloepiphyseal dysplasia nephrotic syndrome" returned 0 free, full-text research articles on human participants.

Reviews from the PubMed Database

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.