Living with Ehlers-Danlos syndrome, kyphoscoliotic type 1
An inherited connective tissue condition with low muscle tone from birth, a curving spine, loose joints, and fragile skin.
Understanding Ehlers-Danlos syndrome, kyphoscoliotic type 1
Babies have low muscle tone from birth. The spine curves starting in early childhood and may worsen in the teen years. Joints are loose and can partly or fully dislocate. Skin is stretchy, fragile, and bruises and scars easily. Medium-sized arteries can be weak and may rupture. Other features can include lower bone density, a blue tint to the whites of the eyes, small corneas, hernias, and clubfoot. Genetic testing is needed to confirm the diagnosis.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone from birth
- Curved spine (kyphoscoliosis)
- Very flexible, dislocating joints
- Stretchy, fragile skin
- Easy bruising and unusual scars
- Low bone density
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include autoimmune and inflammatory disease specialists, bone and joint specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in PLOD1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Ehlers-Danlos Society and Bobby Jones Chiari & Syringomyelia Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- autoimmune and inflammatory disease specialists (rheumatologists); Bone and joint specialists (orthopedists or orthopedic surgeons); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Ehlers-Danlos Society, Bobby Jones Chiari & Syringomyelia Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Ehlers-Danlos Society and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in the PLOD1 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: eds 6; eds via; eds, kyphoscoliotic type; eds, oculoscoliotic type; eds6; edskscl1
Patient organizations
- Ehlers-Danlos SocietyEhlers-Danlos syndrome, kyphoscoliotic type 1 · United States
- Bobby Jones Chiari & Syringomyelia FoundationEhlers-Danlos syndrome, kyphoscoliotic type 1 · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Ehlers-Danlos syndrome, kyphoscoliotic type 1.
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