Conditions
Spondylodysplastic Ehlers-Danlos syndrome (spEDS)
A rare type of EDS with short height, low muscle tone and bowed arms or legs, with other features that depend on the gene involved.
About Spondylodysplastic EDS
Spondylodysplastic Ehlers-Danlos syndrome (spEDS) is a rare condition. A child gets it when a gene change in B4GALT7, B3GALT6 or SLC39A13 comes from both parents. These genes help build parts of connective tissue and bone.
People are short, and growth slows during childhood. Muscle tone is low, from very low at birth to mild and starting later. Arms or legs may be bowed, and skin can be stretchy, soft or thin. Other features depend on the gene. They can include a curved spine, stiff joints, bones that break easily, eye problems, and changes in bone shape that show on x-rays.
A clinical geneticist usually makes the diagnosis. Tests include x-rays of the skeleton, a genetic test, and sometimes special lab tests.
Before a visit, it helps to record growth and height, muscle tone and walking as a child, and broken bones. Spine and joint problems, eye and teeth problems, and x-ray and bone density reports are useful too.
Who usually evaluates it: Usually a clinical geneticist, often working with bone, spine and eye specialists.
What you can record in Selihc Health
- Height and growth as a child, and when you sat and walked
- Low muscle tone as a baby, and bowed arms or legs
- Broken bones, a curved spine and stiff joints, with x-ray and bone density reports
- Eye and teeth problems, and lung or heart reports
- Your own check of your skin, palms, fingers, eyes and how far your joints bend, labeled as self-reported
- Photos of your hands, feet and back
- Genetic test and special lab test reports, with the genes and findings they name
What only a clinician can do
- Measuring growth and examining the muscles, joints, skin and face
- Reading skeletal x-rays
- Deciding on genetic testing of B4GALT7, B3GALT6 and SLC39A13 and on special lab tests, and explaining the results
In an emergency
Call 911 right away for a sudden, very bad headache, sudden weakness or numbness on one side, trouble speaking or seeing, sudden trouble breathing, or sudden, severe pain in the chest or back. Do not drive yourself.
The published criteria
Your summary organizes your records against these sources, for your clinician to review. What clinicians see
Spondylodysplastic 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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