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Start free with EleplanSchimke immuno-osseous dysplasia
ORPHA:1830Disease
Also called Schimke syndrome · Spondyloepiphyseal dysplasia-nephrotic syndrome
What it is
A rare a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and progressive, proteinuric steroid-resistant nephropathy.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Antenatal, Infancy, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
7Common30–79%
35- Abdominal distention
- Abnormal facial shape
- Abnormality of T cell physiology
- Abnormality of the nervous system
- Abnormality of thyroid physiology
- Abnormal proportion of naive CD4 T cells
- Anemia
- Atherosclerosis
- Broad nasal tip
- Cerebral ischemia
- Decreased total neutrophil count
- Disproportionate short-trunk short stature
- Global developmental delay
- Growth delay
- Headache
- Hyperlipidemia
- Hypermelanotic macule
- Hypertension
- Hypoplastic pelvis
- Lumbar hyperlordosis
- Lymphopenia
- Microdontia
- Multiple lentigines
- Nephrotic range proteinuria
- Ovoid vertebral bodies
- Platyspondyly
- Premature birth
- Recurrent infections
- Reduced proportion of naive CD8 T cells
- Seizure
- Severe T-cell immunodeficiency
- Shallow acetabular fossae
- Spondyloepiphyseal dysplasia
- Stroke
- Wide capital femoral epiphyses
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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