Living with Schimke immuno-osseous dysplasia
A genetic condition with short stature, kidney disease, a weakened immune system, and bone differences.
Understanding Schimke immuno-osseous dysplasia
People have flattened spine bones that shorten the neck and trunk, and hip differences that can lead to joint pain over time. Adult height is typically between 3 and 5 feet. Kidney disease can progress to kidney failure. A shortage of T cells, a type of immune cell, causes repeated infections. It begins during pregnancy, at birth, or in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Short stature with a short trunk
- Flattened spine bones (platyspondyly)
- Kidney scarring (focal segmental glomerulosclerosis)
- Low T cell counts and repeated infections
- Excessive curve of the lower spine
- Global developmental delay
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include allergy and immune system specialists, bone and joint specialists, genetic specialists and gum, teeth and mouth specialists.
- 3Consider genetic testing
Changes in SMARCAL1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Little People of America and Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Allergy and immune system specialists (allergists / immunologists); Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists); Gum, teeth and mouth specialists (odontologists)
- Expert care
- Expert lists: Little People of America, Immune Deficiency Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Little People of America and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It is caused by changes in the SMARCAL1 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: immunoosseous dysplasia schimke type; schimke immunoosseous dysplasia; schimke syndrome; siod; spondyloepiphyseal dysplasia - nephrotic syndrome; spondyloepiphyseal dysplasia-nephrotic syndrome
Patient organizations
- Little People of AmericaSchimke immuno-osseous dysplasia · United States
- Human Growth FoundationSchimke immuno-osseous dysplasia · United States
- Kruzn for a Kure FoundationSchimke immuno-osseous dysplasia · United States
- The MAGIC FoundationSchimke immuno-osseous dysplasia · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
- Immune Deficiency FoundationPrimary immunodeficiency · United States
You are more than your diagnosis
Perspectives from people navigating life with Schimke immuno-osseous dysplasia.
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