Ehlers–Danlos syndrome
Group of genetic connective tissues disorders / From Wikipedia, the free encyclopedia
Dear Wikiwand AI, let's keep it short by simply answering these key questions:
Can you list the top facts and stats about Ehlers-Danlos syndrome?
Summarize this article for a 10 year old
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] Complications may include aortic dissection, joint dislocations, scoliosis, chronic pain, or early osteoarthritis.[1][4] The current classification was last updated in 2017, when a number of rarer forms of EDS were added.[1]
Ehlers–Danlos syndrome | |
---|---|
Individual with EDS displaying skin hyperelasticity | |
Pronunciation | |
Specialty | Medical genetics |
Symptoms | Overly flexible joints, stretchy skin, abnormal scar formation[1] |
Complications | Aortic dissection, joint dislocations, osteoarthritis,[1] amplified musculoskeletal pain syndrome[2] |
Usual onset | Childhood or teens depending on type.[3] |
Duration | Lifelong[4] |
Types | Hypermobile, classic, vascular, kyphoscoliosis, arthrochalasia, dermatosparaxis, brittle cornea syndrome, others[5] |
Causes | Genetic[1] |
Risk factors | Family history[1] |
Diagnostic method | Genetic testing, physical examination[4] |
Differential diagnosis | 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] |
EDS occurs due to variations of more than 19 genes that are present at birth.[1] The specific gene affected determines the type of EDS, though the genetic causes of hypermobile Ehlers–Danlos syndrome (hEDS) are still unknown.[1][8] Some cases result from a new variation occurring during early development, while others are inherited in an autosomal dominant or recessive manner.[1] Typically, these variations result in defects in the structure or processing of the protein collagen or tenascin.[1]
Diagnosis is often based on symptoms and confirmed by genetic testing or skin biopsy, particularly with hEDS, but people may initially be misdiagnosed with hypochondriasis, depression, or myalgic encephalomyelitis/chronic fatigue syndrome.[4] Genetic testing can be used to confirm all other types of EDS.[8]
A cure is not yet known,[6] and treatment is supportive in nature.[4] Physical therapy and bracing may help strengthen muscles and support joints.[4] Some forms of EDS result in a normal life expectancy, but those that affect blood vessels generally decrease it.[6] All forms of EDS can result in fatal outcomes for some patients.[9][10][11]
While hEDS affects at least one in 5,000 people globally,[1][12] other types occur at lower frequencies.[9][13] The prognosis depends on the specific disorder.[4] Excess mobility was first described by Hippocrates in 400 BC.[14] The syndromes are named after two physicians, Edvard Ehlers and Henri-Alexandre Danlos, who described them at the turn of the 20th century.[15]