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Copenhagen disease (Copenhagen disease)

Need to improve: Add more information (history, background, etiology, causes (environmental/genetic), diagnosis (imaging etc.), consequences, symptoms, treatment/management, studies/research

Needs more structure

Clinical Presentation

Patients with Copenhagen disease are often asymptomatic, but some may present with symptoms including back pain, difficulty walking, and stiffness of the spine, including neck and back, with kyphosis.

(https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2062#:~:text=Progressive%20non%2Dinfectious%20anterior%20vertebral%20fusion%20(PAVF)%20is%20an,kyphosis%20with%20distinctive)

(https://onlinelibrary.wiley.com/doi/epdf/10.1002/art.40081)

Clinical signs and symptoms

Very frequent:

• Abnormality of the intervertebral disk
• 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

Occasional

• Abdominal situs inversus
• Abnormal facial shape
• Bone pain
• Exostoses
• Joint stiffness
• Morphological abnormality of the central nervous system
• Proximal radio-ulnar synostosis
• Spinal rigidity
• Tall stature

Case Studies

A 12-year-old girl presented with progressive toraco-lumbar kyphoscoliosis and limiting ability for neck movement. At birth, a split cord malformation was found, but no interventions were done. At age 9, she started having problems tilting her spine and bending over as well as moving her head. She was also in pain, specifically in the occipital and suboccipital regions, and had problems walking distances. (https://bmcmusculoskeletdisord.biomedcentral.com/articles/10.1186/1471-2474-7-94)