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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 ...
The specific gene affected determines the type of EDS, though the genetic causes of hypermobile Ehlers–Danlos syndrome (hEDS) are still unknown. [ 1 ] [ 9 ] Some cases result from a new variation occurring during early development, while others are inherited in an autosomal dominant or recessive manner. [ 1 ]
In particular, musculoskeletal involvement is a requirement for diagnosis with any form of hypermobility spectrum disorder but not for hypermobile Ehlers–Danlos syndrome. Like hypermobile Ehlers–Danlos syndrome, hypermobility spectrum disorders are associated with orthostatic tachycardia, gastrointestinal disorders, and pelvic and bladder ...
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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This feature can occur on its own with no underlying health problems, or it can be associated with certain medical conditions, including Marfan syndrome, [1] Ehlers–Danlos syndromes, [2] Loeys–Dietz syndrome, and homocystinuria. [3]
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.
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.