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Start free with EleplanSpondylometaphyseal dysplasia, Kozlowski type
ORPHA:93314Disease
What it is
Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly.
Key facts
- Prevalence
- <1 / 1 000 000 (Europe)
- Age of onset
- Infancy
- Inheritance
- Autosomal dominant
- 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%
5Common30–79%
20- Abnormal enchondral ossification
- Abnormality of the acetabulum
- Abnormality of the ilium
- Brachydactyly
- Carpal bone hypoplasia
- Coxa vara
- Flared iliac wings
- Gait disturbance
- Genu varum
- Metaphyseal widening
- Premature osteoarthritis
- Scoliosis
- Severe short stature
- Short distal phalanx of finger
- Short metatarsal
- Short middle phalanx of finger
- Short toe
- Short tubular bones of the hand
- Squared iliac bones
- Waddling gait
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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