Conditions
Musculocontractural Ehlers-Danlos syndrome (mcEDS)
A rare type of EDS with stiff, bent joints and clubfoot at birth, and skin that becomes stretchy and fragile and bruises easily.
About Musculocontractural EDS
Musculocontractural Ehlers-Danlos syndrome (mcEDS) is a rare condition. A child gets it when a gene change in CHST14 or DSE comes from both parents.
Babies are born with several stiff, bent joints, often bent thumbs and clubfoot, and with facial features a specialist can recognize. Over time, skin becomes stretchy and fragile and bruises easily, scars can be thin, and the palms get many fine lines. Large pools of blood can form under the skin after small bumps. Some people also have spine and foot changes, eye problems, kidney or bladder problems, constipation, or a collapsed lung.
A clinical geneticist usually makes the diagnosis. A genetic test of CHST14 and DSE is the main test. Eye, hearing, heart and kidney checks are often part of care.
Before a visit, it helps to record joint problems at birth, large bruises, and eye, kidney and bowel problems. Spine and foot changes, and photos of skin and hands, are useful too.
Who usually evaluates it: Usually a clinical geneticist, often working with bone and joint, eye and kidney specialists.
What you can record in Selihc Health
- Stiff or bent joints and clubfoot at birth, and how they were treated
- Large bruises or swellings under the skin
- Skin that stretches or splits, scars, and palm wrinkles, with photos
- Eye, kidney, bladder and bowel problems, or a collapsed lung, with reports
- Spine and foot changes, and dislocations
- Your own check of skin stretch, palms, fingers, chest shape and the color of your eye whites, labeled as self-reported
- Genetic test reports, with the genes they name
What only a clinician can do
- Examining the face, skin, hands and joints
- Eye pressure checks and eye exams, hearing tests, and heart and kidney scans
- Deciding on genetic testing of CHST14 and DSE, and explaining the result
In an emergency
Call 911 for a swelling under the skin that grows fast after a bump, or if someone feels faint, confused, cold and clammy after an injury. Also call 911 for sudden, severe belly pain, or sharp chest pain with trouble breathing. Do not drive yourself.
The published criteria
Your summary organizes your records against these sources, for your clinician to review. What clinicians see
Musculocontractural 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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