Progressive non-infectious anterior vertebral fusion
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Copenhagen syndrome |
| Number of Symptoms | 12 |
| OrphanetNr: | 2062 |
| OMIM Id: |
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| ICD-10: |
Q87.8 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 90 cases [Orphanet] |
| Inheritance: |
Not applicable [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Dysostosis with predominant vertebral and costal involvement
-Rare bone disease -Rare developmental defect during embryogenesis Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit -Rare developmental defect during embryogenesis |
Symptom Information:
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(HPO:0001999) | Abnormal facial shape | Occasional [Orphanet] | 169 / 7739 | |||
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(HPO:0003468) | Abnormality of the vertebrae | Very frequent [Orphanet] | 77 / 7739 | |||
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(HPO:0005108) | Abnormality of the intervertebral disk | Very frequent [Orphanet] | 12 / 7739 | |||
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(HPO:0002808) | Kyphosis | Very frequent [Orphanet] | 289 / 7739 | |||
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(HPO:0002974) | Radioulnar synostosis | Occasional [Orphanet] | 52 / 7739 | |||
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(HPO:0100777) | Exostoses | Occasional [Orphanet] | 32 / 7739 | |||
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(HPO:0002653) | Bone pain | Occasional [Orphanet] | 75 / 7739 | |||
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(HPO:0003306) | Spinal rigidity | Occasional [Orphanet] | 30 / 7739 | |||
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(HPO:0001387) | Joint stiffness | Occasional [Orphanet] | 322 / 7739 | |||
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(HPO:0003363) | Abdominal situs inversus | Occasional [Orphanet] | 19 / 7739 | |||
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(HPO:0000098) | Tall stature | Occasional [Orphanet] | 74 / 7739 | |||
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(HPO:0002363) | Abnormality of brainstem morphology | Occasional [Orphanet] | 14 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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