Conditions
Classical-like Ehlers-Danlos syndrome (clEDS)
Very stretchy, velvety skin that bruises easily and very flexible joints, from a missing protein called tenascin-X.
About Classical-like EDS
Classical-like Ehlers-Danlos syndrome (clEDS) is a rare condition caused by a missing protein called tenascin-X. It looks a lot like classical EDS. Skin is very stretchy and feels soft or velvety, bruises show up easily, and joints bend further than most people's and may slip out of place. Unlike classical EDS, scars do not usually turn wide and thin.
Some people also have foot changes, swollen legs, weak muscles or numbness. A child gets clEDS only when a gene change comes from both parents.
A clinical geneticist usually makes the diagnosis after an exam of the skin and joints. The main test is a genetic test of the TNXB gene. A blood test for tenascin-X is sometimes used, and nerve tests may be done for numbness.
Before a visit, it helps to record bruising, joint injuries, foot problems, leg swelling, weakness or numbness, and when each started. Photos of your skin and notes about relatives with similar problems help too.
Who usually evaluates it: Usually a clinical geneticist, sometimes working with a neurologist when there is weakness or numbness.
What you can record in Selihc Health
- Bruising, including bruises that show up without a bump or injury, with photos
- Joints that slip or come out of place
- Flat feet, bunions, leg or ankle swelling, and weak muscles, with photos of your feet and hands
- Prolapse (bladder, uterus or rectum dropping down)
- Your own check of skin stretch, joint flexibility, thin muscles and how your hands look, labeled as self-reported
- Genetic test, tenascin-X blood test and nerve or muscle test reports
- Relatives with similar problems or a diagnosis
What only a clinician can do
- Examining the skin, scars, joints, hands and feet
- Checking muscle strength, and nerve tests
- Reviewing your family history
- Deciding on genetic or tenascin-X testing and explaining the result
In an emergency
Call 911 for sudden, severe belly pain, for vomiting blood or something that looks like coffee grounds, or for black, tarry stools. Call 911 for chest pain or trouble breathing.
The published criteria
Your summary organizes your records against these sources, for your clinician to review. What clinicians see
Classical-like 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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