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.

aEDS 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 is inherited in an autosomal dominant pattern. This means if a person inherits the genetic variant from one of their parents, they will have aEDS. Each child of a parent with aEDS will have a 50% chance of having aEDS.

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.

To meet the diagnostic criteria for aEDS, a person must meet:

• Major criterion 1 AND major criterion 3

OR 

• Major criterion 1 AND major criterion 2 and at least two minor criteria

Major Criteria 

1. Congenital bilateral hip dislocation
2. Severe generalized joint hypermobility, with multiple dislocations/subluxations
3. Skin hyperextensibility

Minor Criteria

1. Muscle hypotonia
2. Kyphoscoliosis
3. Radiologically mild osteopenia
4. Tissue fragility, including atrophic scars
5. Easy bruisable skin

aEDS is managed by addressing the symptoms a person is experiencing. aEDS can cause a variety of symptoms in many different areas of the body, so people with aEDS may require multiple providers in different specialties to manage their care. Key aspects of care focus on the musculoskeletal system and skin. Each person should work with their care team to develop a care plan that meets their individual needs.

Resources

The Ehlers-Danlos Syndromes, Rare Types 

Ehlers–Danlos Syndrome Type Arthrochalasia: A Systematic Review 

The 2017 International Classification of the Ehlers-Danlos Syndromes