Schimke Immuno Osseous Dysplasia: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 2, 2026.
What kind of doctor treats Schimke Immuno Osseous Dysplasia?
An allergist and immunologist usually helps manage the immune problems. A nephrologist, a kidney doctor, often manages the kidney disease. Many patients also see genetics and orthopedic doctors. A primary care doctor often helps coordinate care among these specialists. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What it is
Schimke immuno osseous dysplasia is a rare disease that people are born with. "Immuno" refers to the immune system, "osseous" to the bones, and "dysplasia" means some parts of the body did not form the way they usually do. People with this condition often have problems with their kidneys, immune system, and bones, and many are shorter than average.
Symptoms
Kidney problems are common and often get worse over time; some people develop kidney failure. The immune system may not make enough infection-fighting cells, called immunodeficiency, so infections happen more often and can be serious. Bone changes and short stature are very common, and some people have dark skin patches, thyroid problems, or blood vessel problems.
Causes and who gets it
This condition is caused by changes in a gene called SMARCAL1. A person must have two changed copies, one from each parent; parents who carry one changed copy usually have no symptoms. It is very rare.
How doctors diagnose it
Doctors often start by looking at the pattern of problems, which can include short stature, kidney disease, frequent infections, and bone changes on an X-ray. Blood and urine tests show how the kidneys and immune system are working, and a genetic test can confirm the diagnosis.
Treatment
There is no cure, and treatment focuses on managing each problem as it comes up. Kidney problems may be treated with medicines that lower protein in the urine and control blood pressure; some people need dialysis or a kidney transplant. Immune problems may be treated with medicines, antibody infusions, or a stem cell transplant. Bone and joint problems may be managed with physical therapy or surgery.
When to see a doctor
Anyone with a combination of short stature, frequent or serious infections, and signs of kidney trouble should see a doctor. Signs of kidney trouble can include swelling in the legs or face, foamy urine, or feeling very tired.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance for visits; a concierge doctor usually charges more and often works alongside insurance. Either one can be a steady home base, handling routine checkups, lab tests, and common infections, and referring to specialists for the condition itself.
Common questions
Is Schimke immuno osseous dysplasia passed down in families?
Yes. A child must inherit one changed copy of the SMARCAL1 gene from each parent to have the condition. Parents who each carry one changed copy usually have no symptoms themselves.
Can it be cured?
No, there is no cure right now. Treatment focuses on managing the kidney, immune, and bone problems, and how well treatments work differs from person to person.
How serious is it?
It can be serious, especially when the kidneys or immune system are badly affected. Some people have milder problems, so the outlook varies a lot.
Can adults have this condition?
It is usually found in childhood, but some people with milder forms are diagnosed later. Adults with the condition need ongoing monitoring of their kidneys and immune system.
Sources
- NIH Genetic and Rare Diseases Information Center - Schimke immuno-osseous dysplasia
- MedlinePlus Genetics - Schimke immuno-osseous dysplasia
- MedlinePlus - Kidney Diseases
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
