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Extreme joint instability, chronic musculoskeletal pain, degenerative joint disease, frequent injuries, and spinal deformities may limit mobility. Severe spinal deformities may affect breathing. In the case of extreme joint instability, dislocations may result from simple tasks such as rolling over in bed or turning a doorknob.
Ehlers–Danlos syndrome is a genetic disorder caused by mutations or hereditary genes, but the genetic defect that produced hEDS is largely unknown. In conjunction with joint hypermobility, a common symptom for hEDS is smooth, velvety, and stretchy skin; a symptom largely unique to the syndrome. When diagnosing hEDS, the Beighton Criteria are ...
Hypermobile Ehlers–Danlos syndrome and hypermobility spectrum disorders may be equally severe. [5] [6] HSD is further classified into different subtypes, which include: [6] Generalized HSD (G-HSD): Involves widespread joint hypermobility affecting multiple joints. Localized HSD (L-HSD): Limited to a few joints, without generalized involvement.
However, if there is widespread laxity of other connective tissue, then this may be a sign of Ehlers–Danlos syndrome, Down syndrome, Klippel–Feil syndrome, juvenile idiopathic arthritis, Larsen syndrome, Marfan syndrome, osteogenesis imperfecta, and other medical conditions. [1] [2]
Craniocervical instability is more common in people with a connective tissue disease, including Ehlers-Danlos syndromes, [1] osteogenesis imperfecta, and rheumatoid arthritis. [2] It is frequently co-morbid with atlanto-axial joint instability, Chiari malformation, [3] or tethered spinal cord syndrome.
Connective tissue disorders. In these disorders, there are excessive joint mobility (joint hypermobility) problems. These disorders include: Marfan syndrome; Loeys–Dietz syndrome; Ehlers–Danlos syndrome; Benign hypermobile joint syndrome; Osteogenesis imperfecta disease
[24] [43] Marfan syndrome, Ehlers–Danlos syndrome, and autosomal dominant polycystic kidney disease are the three most common connective tissue disorders associated with sCSFLs. [24] Roughly 20% of patients with a sCSFL exhibit features of Marfan syndrome, including tall stature, hollowed chest (pectus excavatum), joint hypermobility and ...
Swan neck deformity has many of possible causes arising from the DIP, PIP, or even the MCP joints. In all cases, there is a stretching of the volar plate at the PIP joint to allow hyperextension, plus some damage to the attachment of the extensor tendon to the base of the distal phalanx that produces a hyperflexed mallet finger.