What is Arthrochalasia Ehlers-Danlos Syndrome (aEDS)?
🧬aEDS is a genetic connective tissue disorder that causes congenital bilateral hip dislocation, generalized joint hypermobility, and joint instability.
aEDS is an ultra-rare disorder that affects less than 1 in 1
million people. It is caused by differences in the genes called genetic variants. These genetic variants affect the connective tissue, which provides support, protection, and structure throughout the body.
aEDS is caused by genetic variants of these genes:
🧬COL1A1
🧬COL1A2
📄🩺aEDS may be suspected if a person has:
🔵Congenital bilateral hip dislocation
🔵Generalized joint hypermobility
🔵Recurrent joint dislocations and subluxations
People with aEDS may also have:
🔵Skin hyperextensibility
🔵Soft, doughy, or velvety skin
🔵Muscle hypotonia (low muscle tone)
🔵Motor developmental delay
🔵Spinal deformities (such as scoliosis, kyphoscoliosis, and lordosis)
🔵Easy bruising
🔵Atrophic scarring
🔵Skin fragility
🔵Foot deformities (such as clubfoot and flat feet)
🩸If a person meets the diagnostic criteria for aEDS, genetic testing should be done to confirm the diagnosis. Genetic testing is used to see if a person has the genetic variants that cause aEDS.