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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 ]
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 ...
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]
Basically, after seeing like 100,000 doctors, I got diagnosed with Ehlers-Danlos syndrome, Sjögren’s syndrome, mast cell activation syndrome, POTS." The singer said they were on a treatment ...
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 ...
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 .
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.
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.