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ORPHA:93315Disease
Also called Spondylometaphyseal dysplasia, Sutcliffe type
What it is
Spondylometaphyseal dysplasia, 'corner fracture' type is a skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated 'corner fractures' of long tubular bones and vertebral body abnormalities (mostly oval vertebral bodies).
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Childhood, Infancy, Neonatal
- 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%
6Common30–79%
11Sometimes5–29%
23- Abnormality of the antitragus
- Biconcave vertebral bodies
- Biconvex vertebral bodies
- Facial asymmetry
- Flat face
- High palate
- Intervertebral space narrowing
- Lower limb asymmetry
and 15 more in this range
Rare1–4%
14- Abnormal circulating osteocalcin level
- Abnormality of the dentition
- Avascular necrosis of the capital femoral epiphysis
- C1-C2 vertebral abnormality
- Clinodactyly
- Hypoplastic iliac wing
- Increased susceptibility to fractures
- Increased urinary type 1 collagen N-terminal telopeptide level
and 6 more in this range
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.
Genes
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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