Progressive non-infectious anterior vertebral fusion
Synonyms: Copenhagen syndrome · PAVF
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Childhood
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Progressive non-infectious anterior vertebral fusion | Copenhagen syndrome · PAVF |
| fr | Fusion des vertèbres progressive non infectieuse | FVAP · Fusion vertébrale antérieure progressive · Syndrome de Copenhague |
| de | Progrediente nicht-infektiöse anteriore Wirbelfusion | Copenhagen-Syndrom · PAVF |
| es | Fusión vertebral anterior progresiva no infecciosa | PAVF · Síndrome de Copenhague |
| it | Fusione vertebrale anteriore progressiva non infettiva | PAVF · Sindrome di Copenhagen |
| nl | Progressieve niet-infectieuze anterieure vertebrale fusie | Kopenhagen-syndroom · PAVF |
| pt | Fusão vertebral anterior progressiva não infeciosa | PAVF · Síndrome Copenhaga |
| pl | Postępujący nieinfekcyjny zrost kręgów przednich | Zespół Copenhagen |
| cs | Progresivní neinfekční přední fúze obratlů | Kodaňský syndrom |
| uk | Прогресуючий неінфекційний передній хребетний спондилодез | Копенгагенський синдром · PAVF |
| zh | 进行性非感染性前椎骨融合 | 哥本哈根综合征 |
| tr | İlerleyici enfeksiyöz olmayan anterior vertebral füzyon | Kopenhag sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD24.H | BTNT | index | validated |
| MONDO | 0016087 | E | validated | |
| UMLS | C4304839 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:93454Dysostosis with predominant vertebral and costal involvement
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 67 cases | Worldwide | Case(s) | Validated | 25485486[PMID]_28235247[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 25485486[PMID]_28235247[PMID]_ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
27 annotations · validated 2024-02-15| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005108 | Abnormal intervertebral disk morphology | |
| HP:0000925 | Abnormality of the vertebral column | |
| HP:0000248 | Brachycephaly | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0012368 | Flat face | |
| HP:0002937 | Hemivertebrae | |
| HP:0000316 | Hypertelorism | |
| HP:0002808 | Kyphosis | |
| HP:0001176 | Large hands | |
| HP:0000347 | Micrognathia | |
| HP:0000311 | Round face | |
| HP:0002650 | Scoliosis | |
| HP:0000322 | Short philtrum | |
| HP:0001072 | Thickened skin | |
| HP:0000233 | Thin vermilion border | |
| HP:0000154 | Wide mouth | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0003363 | Abdominal situs inversus | |
| HP:0001999 | Abnormal facial shape | |
| HP:0002653 | Bone pain | |
| HP:0100777 | Exostoses | |
| HP:0001387 | Joint stiffness | |
| HP:0002011 | Morphological central nervous system abnormality | |
| HP:0005037 | Proximal radio-ulnar synostosis | |
| HP:0003306 | Spinal rigidity | |
| HP:0000098 | Tall stature | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 22277711[PMID]_16328382[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2062
- This record as JSON: /data/d/2062.json