Arthrochalasia Ehlers-Danlos syndrome (aEDS) is a heritable 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.
Key signs and symptoms of aEDS include:
People with aEDS may also have:
You can learn more about the features of aEDS by selecting different body parts from the menu.
Genetic Basis
aEDS is caused by genetic variants in these genes:
Humans have two copies of the COL1A1 and COL1A2 genes. People with aEDS typically have a pathogenic variant in one copy of the COL1A1 or COL1A2 gene.
Inheritance
aEDS is inherited in an autosomal dominant pattern. Autosomal means it can be passed on and inherited equally by both males and females. Dominant means people with aEDS have a 50% chance of passing the condition on to each child they have.
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 Criteria
Minor Criteria
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 needs.
Signs and Symptoms
Musculoskeletal
Spine
Skin
Gastrointestinal
Chest and lungs
Head
Eyes
Feet
Pregnancy
How to Use:
Explore the features of aEDS by selecting different body parts from the menu.
Please note that aEDS affects each person differently. The symptoms listed here may not affect everyone with aEDS, and people with aEDS may have other symptoms that are not listed on this page. This page is intended to provide information about symptoms that may occur in individuals with aEDS and does not constitute medical advice. Always consult a healthcare professional for personalized medical guidance.
Select from the list below to learn how aEDS can affect the musculoskeletal system.
Joint hypermobility means a joint has a greater range of motion than usual. People with aEDS have generalized joint hypermobility, which means joint hypermobility is present in many areas throughout the body.
Congenital hip dysplasia, also called congenital hip dislocation, is a condition in which the hip joint is not formed correctly at birth. The hip is a ball-and-socket joint. The ball of the femur moves within the socket of the pelvis, allowing movement of the legs. In someone with hip dysplasia, the socket of the pelvis is too shallow to support the ball of the femur properly. This can lead to instability, pain, and problems with walking. Congenital bilateral hip dislocation is a hallmark feature of aEDS.
A joint is the point where two or more bones connect. Joint instability means the bones of a joint are not held in place securely. This can lead to joint subluxations, dislocations, sprains, and other injuries.
A joint dislocation occurs when two bones at a joint separate completely and are no longer touching. A subluxation is a partial dislocation in which two bones at a joint are out of place but are still touching each other.
A bone fracture is a partial or complete break of a bone.
Motor skills are actions that use specific muscle movements to perform a particular task. Gross motor skills involve large muscle groups, such as rolling, crawling, and walking. Delayed gross motor development means that a child has trouble with gross motor skills that other children their age can do.
Muscle tone is the amount of tension (or resistance to movement) in the muscles. Muscle tone allows us to hold our bodies upright and affects the control, speed, and range of our movement. Muscle hypotonia, or low muscle tone, means the muscles are floppy and unable to support the body’s position and movement properly. It may require more effort for people with hypotonia to move and maintain good posture. Muscle hypotonia typically improves with age in people with aEDS.
Select from the list below to learn how aEDS can affect the spine.
Scoliosis is a sideways curve in the spine that gives the spine an “S” or “C” shape.
Kyphoscoliosis is a combination of two spinal conditions: kyphosis and scoliosis. Kyphosis is an abnormal forward curve in the spine that causes the upper back to look more rounded. Scoliosis is a sideways curve in the spine that gives the spine an “S” or “C” shape.
Lordosis is an exaggerated inward curve of the spine, often in the lower back or neck.
Select from the list below to learn how aEDS can affect the skin.
Skin hyperextensibility means the skin can be stretched beyond the normal range.
People with aEDS may have soft, doughy, or velvety skin.
Some people with aEDS bruise easily.
Some people with aEDS have fragile skin that is prone to tearing.
Atrophic scars are sunken or depressed scars that form when wounds heal below the normal surface layer of the skin. This happens when the body does not produce enough collagen during healing.
Wounds may heal poorly or take longer to heal in people with aEDS.
Select from the list below to learn how aEDS can affect the gastrointestinal system.
A hernia occurs when an internal organ pushes through a weak spot in the tissues that support it, creating an outward bulge. aEDS is associated with umbilical hernias, which are hernias near the belly button.
Select from the list below to learn how aEDS can affect the chest and lungs.
Pectus excavatum is an indentation in the chest that occurs when the sternum grows inward. This happens when too much connective tissue grows between the ribs and the sternum. Mild pectus excavatum may not cause any problems, but if the indentation is deep enough, it can put pressure on the lungs and heart.
Select from the list below to learn how aEDS can affect the head.
People with aEDS often have similar craniofacial features, which include features of the face and the rest of the head.
Craniofacial features of aEDS include:
Select from the list below to learn how aEDS can affect the eyes.
The sclera (plural: sclerae) is a protective layer of connective tissue that surrounds most of the eye. The sclera is usually white but is more transparent when collagen fibers are thin. This allows the underlying tissue to show through, giving the eyes a bluish color.
Select from the list below to learn how aEDS can affect the feet.
Clubfoot (talipes equinovarus) causes the foot to point downward and twist inward. This causes the toes to point toward the opposite leg and can make walking difficult if not addressed.
Flat feet (pes planus) means the feet have little to no arch when standing. When a person with flat feet stands, the entire bottom of their foot touches the ground.
A bunion (hallux valgus) is a bony bump at the base of the big toe.
Select from the list below to learn how aEDS can affect pregnancy.
A breech presentation means the bottom or feet of the fetus are positioned to come out first during birth instead of the head.
Premature rupture of membranes (PROM) means that the amniotic sac breaks open prematurely before labor begins. This causes amniotic fluid to leak (also known as water breaking) and can increase the risk of premature birth and infection.
Reduced fetal movements mean the fetus does not move around as much during pregnancy.
Polyhydramnios occurs when there is too much amniotic fluid around the fetus during pregnancy.
Please note that aEDS affects each person differently. The symptoms listed here may not affect everyone with aEDS, and people with aEDS may have other symptoms that are not listed on this page. This page is intended to provide information about symptoms that may occur in individuals with aEDS and does not constitute medical advice. Always consult a healthcare professional for personalized medical guidance.
The Ehlers-Danlos Syndromes, Rare Types (Brady et al., 2017)
https://doi.org/10.1002/ajmg.c.31550
The 2017 International Classification of the Ehlers-Danlos Syndromes (Malfait et al., 2017)
https://doi.org/10.1002/ajmg.c.31552
Ehlers–Danlos Syndrome Type Arthrochalasia: A Systematic Review (Martín-Martín et al., 2022)
https://doi.org/10.3390/ijerph19031870
Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers-Danlos syndrome (Ayoub et al., 2020)
https://doi.org/10.1002/ajmg.a.61523
Ehlers–Danlos arthrochalasia type – expanding the phenotype: from prenatal life through adulthood (Klaassens et al., 2011)
https://doi.org/10.1111/j.1399-0004.2011.01758.x
