Conditions
Arthrochalasia Ehlers-Danlos syndrome (aEDS)
A very rare type of EDS in which babies are born with hips out of place, and joints are very loose and slip often.
About Arthrochalasia EDS
Arthrochalasia Ehlers-Danlos syndrome (aEDS) is a very rare condition that can be passed from a parent to a child. It affects type I collagen, a protein that holds joints, skin and bones together.
Babies with aEDS are usually born with both hips out of place. Joints are very loose and often slip or come out of place. Skin can be stretchy and soft, bruise easily, and scar. Some people also have a curved spine, low muscle tone as a baby, or thin bones.
A clinical geneticist usually makes the diagnosis, often working with a bone and joint surgeon. A genetic test looks at the COL1A1 and COL1A2 genes. X-rays and bone density scans are often part of care.
Before a visit, it helps to record hip problems at birth and how they were treated. Dislocations, spine curves, broken bones, bruising, scars, and relatives with similar problems or a diagnosis are useful too.
Who usually evaluates it: Usually a clinical geneticist, often working with a bone and joint surgeon (orthopedic surgeon).
What you can record in Selihc Health
- Hip problems at birth and how they were treated
- Joints that slip or come out of place, and when it started
- A curved spine, low muscle tone as a baby and broken bones, with spine, x-ray and bone density reports
- Skin that stretches, splits, scars or bruises, with photos
- Your own check of how far your skin stretches and how far your joints bend, labeled as self-reported
- Genetic test and collagen test reports, with the genes and findings they name
- Relatives with similar problems or a diagnosis
What only a clinician can do
- The joint flexibility exam
- Examining the skin and scars
- Reading x-rays and bone density scans
- Deciding on genetic testing of COL1A1 and COL1A2, and explaining the result
The published criteria
Your summary organizes your records against these sources, for your clinician to review. What clinicians see
Arthrochalasia Ehlers-Danlos syndrome: 2017 international classification
Malfait F, Francomano C, Byers P, et al. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017;175(1):8-26. doi:10.1002/ajmg.c.31552
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This page is general information written for patients, not medical advice. Content is a draft awaiting clinical review.
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