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Marfan syndrome, cutis laxa syndrome, familial joint hypermobility syndrome, [4] Loeys–Dietz syndrome, hypermobility spectrum disorder: Treatment: Supportive [6] Prognosis: Depends on specific disorder [4] Frequency: 1 in 5,000 [1]
Hypermobility spectrum disorder does not include people with asymptomatic hypermobility or people with double-jointedness but no other symptoms. Hypermobile Ehlers–Danlos syndrome and hypermobility spectrum disorders may be equally severe. [5] [6] HSD is further classified into different subtypes, which include: [6]
Joint hypermobility is often correlated with hypermobile Ehlers–Danlos syndrome (hEDS, known also by EDS type III or Ehlers–Danlos syndrome hypermobility type (EDS-HT)). 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 ...
Ehlers-Danlos syndrome is a genetic disorder in humans and animals which can cause connective tissue disorders, hyper mobility, bruising, and a range of other issues. In cats it cause limb ...
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.
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
Bethlem myopathy 2 (BTHLM2), formerly known as myopathic-type Ehlers–Danlos syndrome, is caused by a mutation on the COL12A1 gene coding for type XII collagen. [3] It is autosomal dominant. [3] In 2017, an international workshop proposed a redefined criteria and naming system for limb-girdle muscular dystrophies.
Ehlers-Danlos syndrome: [4] Marfanoid habitus is generally associated with kyphoscoliotic Ehlers-Danlos. Snyder–Robinson syndrome at SMS, whose incidence is about 1 in 5,000-10,000 in all ethnic groups; Perrault syndrome : Marfanoid habitus is a nonspecific feature of Perrault syndrome.