kyphoscoliosis$42835$ - Übersetzung nach italienisch
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kyphoscoliosis$42835$ - Übersetzung nach italienisch

GROUP OF GENETIC CONNECTIVE TISSUE DISORDERS
Ehlers-Danlos Syndrome; Ehlers Danlos Syndrome; Ehlers-danlos syndrome; Ehler-Danlos Syndrome; Ehlers-danlos; Ehlers Danlos; Ehler-Danlos; Ehler-Danlos syndrome; Cutis hyperelastica; Elastic skin; India rubber skin; Classic Ehlers-Danlos syndrome; Ehlers-Danlos syndrome, type 3; Ehlers-Danlos syndrome; Ehlers-Danlos syndrome, classical type; Ehlers–Danlos Syndrome; Ehler Danlos Syndrome; Arthrochalasia type of Ehlers–Danlos syndrome; Cardiac valvular type of Ehlers–Danlos syndrome; Dermatosparaxis variant of Ehlers–Danlos syndrome; Kyphoscoliosis variant of Ehlers–Danlos syndrome; Classic variant of Ehlers–Danlos syndrome; Hypermobility variant of Ehlers–Danlos syndrome; Vascular variant of Ehlers–Danlos syndrome; Ehlers danlos syndrome; Eric the Actor's Disease; Ehlers–Danlos syndrome, classical type; Ehlers-Danos syndrome; Ehlers–Dunlos syndrome; Ehlers–dunlos syndrome; Ehlers–Dunlos; Ehlers Dunlos; Ehlers Dunlos syndrome; Ehlers—Danlos syndrome; Arthrochalasia type of Ehlers-Danlos syndrome; Classic variant of Ehlers-Danlos syndrome; Dermatosparaxis variant of Ehlers-Danlos syndrome; Ehlers-Dunlos syndrome; Ehlers-Dunlos; Ehlers-dunlos syndrome; Cardiac valvular type of Ehlers-Danlos syndrome; Hypermobility variant of Ehlers-Danlos syndrome; Kyphoscoliosis variant of Ehlers-Danlos syndrome; Vascular variant of Ehlers-Danlos syndrome; Ehlers Danlos syndrome; Classification of Ehlers–Danlos syndrome; Ehlers-Danlos syndromes; Classification of Ehlers-Danlos syndrome; Ehlers–Danlos syndrome; Hypermobile Ehlers-Danlos syndrome; Ehlers danlos; Heds; Ehlers Danlos syndromes; Ehlers-Danlos; Vascular eds; Vascular Ehlers-Danlos syndrome; Arthrochalasia EDS; Dermatosparaxis EDS; Brittle cornea syndrome; Classical EDS; Hypermobile Ehlers–Danlos syndrome
  • The collagen fibril and EDS: (a) Normal collagen fibrils are of uniform size and spacing. Fibrils from a person with dermatosparaxis (b) show dramatic alterations in fibril morphology with severe effects on the tensile strength of connective tissues. A person with classical EDS (c) shows composite fibrils. Fibrils from a TNX-deficient person (d) are uniform in size and no composite fibrils are seen. TNX-null (e) fibrils are less densely packed and not as well aligned to neighboring fibrils.
  • Stevie Boebi and Annie Elainey, who have EDS, standing with walking aids on the red carpet
  • Pageant contestant Victoria Graham has EDS.

kyphoscoliosis      
n. (Med) cifoscoliosi

Wikipedia

Ehlers–Danlos syndromes

Ehlers–Danlos syndromes (EDS) are a group of 13 genetic connective-tissue disorders in the current classification, with the latest type discovered in 2018. Symptoms often include loose joints, joint pain, stretchy velvety skin, and abnormal scar formation. These may be noticed at birth or in early childhood. Complications may include aortic dissection, joint dislocations, scoliosis, chronic pain, or early osteoarthritis.

EDS occurs due to variations of more than 19 genes that are present at birth. The specific gene affected determines the type of EDS. Some cases result from a new variation occurring during early development, while others are inherited in an autosomal dominant or recessive manner. Typically, these variations result in defects in the structure or processing of the protein collagen.

Diagnosis is often based on symptoms and confirmed by genetic testing or skin biopsy, but people may initially be misdiagnosed with hypochondriasis, depression, or chronic fatigue syndrome.

A cure is not yet known and treatment is supportive in nature. Physical therapy and bracing may help strengthen muscles and support joints. Some forms of EDS result in a normal life expectancy, but those that affect blood vessels generally decrease it.

The hypermobile type of EDS (hEDS) affects at least one in 5,000 people globally; other types occur at lower frequencies. The prognosis depends on the specific disorder. Excess mobility was first described by Hippocrates in 400 BC. The syndromes are named after two physicians, Edvard Ehlers and Henri-Alexandre Danlos, who described them at the turn of the 20th century.