Conditions
Kyphoscoliotic Ehlers-Danlos syndrome (kEDS)
A rare type of EDS with very low muscle tone from birth, a spine that curves early in life, and loose joints.
About Kyphoscoliotic EDS
Kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is a rare condition. A child gets it when a gene change in PLOD1 or FKBP14 comes from both parents.
Babies are often born with very low muscle tone, and a curved spine is usually there at birth or starts in the first years of life. Joints are loose and may slip out of place, most often the shoulders, hips and knees. Skin can be stretchy and fragile and bruise easily. Some people have eye problems or hearing loss, and some have a blood vessel that tears or bulges.
A clinical geneticist usually makes the diagnosis. Tests include a genetic test and, for the PLOD1 type, a urine test that looks at collagen pieces. Spine x-rays, eye exams, hearing tests and heart ultrasounds are often part of care.
Before a visit, it helps to record muscle tone as a baby, spine curves and surgery, and dislocations. Eye and hearing problems, bruising, and any torn or bulging blood vessel are useful too.
Who usually evaluates it: Usually a clinical geneticist, often working with spine, eye and heart specialists.
What you can record in Selihc Health
- Low muscle tone as a baby, and when you sat and walked
- A curved spine, spine surgery and spine x-rays, with back photos
- Dislocations, bruising, skin that splits, and scars
- Eye problems, eye injuries and hearing tests
- Any torn or bulging blood vessel, with hospital reports
- Your own check of how far your joints bend, the color of your eye whites and your body build, labeled as self-reported
- Genetic test and urine collagen test reports, with the genes and findings they name
What only a clinician can do
- The joint flexibility exam
- Examining the spine, skin, eyes and face
- Reading spine imaging, eye exams and hearing tests
- Deciding on a urine collagen test and genetic testing of PLOD1 and FKBP14, and explaining the results
In an emergency
Call 911 right away for sudden, severe pain in the belly, side, back, chest, arm or leg. Also call 911 for signs of a stroke, such as sudden weakness or numbness on one side, trouble speaking or seeing, or a sudden, very bad headache. Do not drive yourself. Get emergency eye care right away if an eye is hit or hurt, or for sudden eye pain or loss of vision. Do not press or rub an injured eye.
The published criteria
Your summary organizes your records against these sources, for your clinician to review. What clinicians see
Kyphoscoliotic 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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