Ehlers-danlos
| Ehlers–Danlos syndromes | |
|---|---|
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| Individual with an EDS displaying skin hyperelasticity | |
| Specialty | Medical genetics |
| Symptoms | Overly flexible joints, stretchy skin, abnormal scar formation |
| Complications | Aortic dissection, joint dislocations, osteoarthritis |
| Usual onset | Birth or early childhood |
| Duration | Long term |
| Causes | Genetic |
| Diagnostic method | Genetic testing, skin biopsy |
| Similar conditions | Marfan syndrome, cutis laxa syndrome, familial joint hypermobility syndrome |
| Treatment | Supportive |
| Prognosis | Depends on specific disorder |
| Frequency | 1 in 5,000 |
| Classification |
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| External resources |
Ehlers–Danlos syndromes (EDS) are a group of genetic connective tissue disorders. Symptoms may include loose joints, stretchy skin, and abnormal scar formation. These can be noticed at birth or in early childhood. Complications may include aortic dissection, joint dislocations, scoliosis, chronic pain, or early osteoarthritis.
EDSs are due to a mutation in one of more than a dozen different genes. The specific gene affected determines the specific EDS. Some cases result from a new mutation occurring during early development while others are inherited in an autosomal dominant or recessive manner. This results in defects in the structure or processing of collagen. The diagnosis may be confirmed with genetic testing or a skin biopsy. People may be misdiagnosed with hypochondriasis, depression, or chronic fatigue syndrome.
There is no known cure. Treatment is supportive in nature.Physical therapy and bracing may help strengthen muscles and support joints. While some disorders result in a normal life expectancy, those that affect blood vessels generally result in a shorter life expectancy.
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