Dermatosparaxis Ehlers-Danlos syndrome | oneedsvoice

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Dermatosparaxis Ehlers-Danlos syndrome

key information

source: GARD: Genetic and Rare Diseases Information Center

year: 2017

summary/abstract:

Dermatosparaxis Ehlers-Danlos syndrome (dEDS) is an inherited connective tissue disorder that is caused by defects in a protein called collagen. Common symptoms include soft, doughy skin that is extremely fragile; saggy, redundant skin, especially on the face; hernias; and mild to severe joint hypermobility. EDS, dermatosparaxis type is caused by changes (mutations) in the ADAMTS2 gene and is inherited in an autosomal recessive manner. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms.

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