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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]
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]
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 - diverse collection of disorders distinguished by the fragility of soft connective tissues and widespread symptoms affecting the skin, ligaments, joints, blood vessels, and internal organs. [5] Osteogenesis imperfecta - hereditary condition marked by reduced bone mass, weakened bones, increased brittleness, and short ...
The constellation of symptoms caused by craniocervical instability is known as "cervico-medullary syndrome" [4] and includes: [5] [6] [7] Anxiety disorder; Bobble-head doll syndrome, a sensation that the skull may fall off the cervical spine; Clumsiness and motor delay; Cognitive and memory decline; Double or blurred vision; Dysphagia, or the ...
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]
Dural ectasia is common in Marfan syndrome, [3] occurring in 63–92% of people with the syndrome. [11] It may also occur in Ehlers-Danlos Syndrome , neurofibromatosis type I , [ 12 ] ankylosing spondylitis , [ 1 ] and is associated with spondylolisthesis , vertebral fractures, [ 13 ] scoliosis , tumors or trauma .
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.