Copenhagen disease
ORPHA: 2062
Overview
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
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Copenhagen disease, sourced from HPO and Orphanet clinical annotations.
Wide mouthThin vermilion borderBrachycephalyRound faceHypertelorismShort philtrumMicrognathiaWide nasal bridgeDownslanted palpebral fissuresAbnormality of the vertebral columnThickened skinLarge handsScoliosisKyphosisHemivertebraeAbnormal intervertebral disk morphologyDepressed nasal bridgeFlat faceTall statureJoint stiffnessAbnormal facial shapeMorphological central nervous system abnormalityBone painSpinal rigidityAbdominal situs inversusProximal radio-ulnar synostosisExostoses
Classification & Codes
Orphanet Code
ORPHA:2062Copenhagen disease
| Orphanet | ORPHA:2062 |
| Treatments | 0 drug(s) |
| Symptoms on record | 27 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO