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Start free with EleplanProgressive non-infectious anterior vertebral fusion
ORPHA:2062Malformation syndrome
Also called Copenhagen syndrome · PAVF
What it is
Progressive non-infectious anterior vertebral fusion (PAVF) is an early childhood spinal disorder characterized by the gradual onset of thoracic and/or lumbar spine ankylosis often in conjunction with kyphosis with distinctive radiological features.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Childhood
- Inheritance
- Not applicable
- Classified as
- Malformation syndrome
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%
18- Abnormal intervertebral disk morphology
- Abnormality of the vertebral column
- Brachycephaly
- Depressed nasal bridge
- Downslanted palpebral fissures
- Flat face
- Hemivertebrae
- Hypertelorism
- Kyphosis
- Large hands
- Micrognathia
- Round face
- Scoliosis
- Short philtrum
- Thickened skin
- Thin vermilion border
- Wide mouth
- Wide nasal bridge
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.
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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