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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]
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 ...
Ehlers–Danlos syndromes (EDS) are a group of 13 genetic connective-tissue disorders. [7] Symptoms often include loose joints, joint pain, stretchy velvety skin, and abnormal scar formation. [ 1 ] These may be noticed at birth or in early childhood. [ 3 ]
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.
The Ehlers–Danlos Society is an international nonprofit organization dedicated to patient support, scientific research, advocacy, and increasing awareness for the Ehlers–Danlos syndromes (EDS) and hypermobility spectrum disorder (HSD). [1] The society has organized multiple events around the world in an attempt to raise awareness for EDS ...
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Gorlin's sign. Gorlin’s sign is a medical term that indicates the ability in humans to touch the tip of the nose with the tongue. [1] Approximately ten percent of the general population can perform this act, but fifty percent of people with Ehlers–Danlos syndrome (an inherited connective tissue disorder) have the ability.
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