Living with X-linked Ehlers-Danlos syndrome
A rare inherited connective tissue condition with very flexible joints, stretchy thin skin, and heart valve problems, mostly in males.
Understanding X-linked Ehlers-Danlos syndrome
Features include very flexible joints, a curved spine, soft and stretchy skin, unusual scarring, and low muscle tone. Heart valve problems can lead to heart failure. Female carriers are affected to different degrees. Signs often show in the teen years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Very flexible joints
- Stretchy, thin skin
- Easy bruising
- Hernias
- Short stature
- Heart differences
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, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in FLNA 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); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- 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
X-linked Ehlers-Danlos syndrome is caused by changes in the FLNA gene and follows X-linked inheritance.
Also known as: eds 5; eds v; ehlers-danlos syndrome type 5; ehlers-danlos syndrome type v; ehlers-danlos syndrome, type 5; ehlers-danlos syndrome, x-linked
Patient organizations
- Ehlers-Danlos SocietyX-linked Ehlers-Danlos syndrome · United States
- Bobby Jones Chiari & Syringomyelia FoundationX-linked Ehlers-Danlos syndrome · United States
- Coalition for Heritable Disorders of Connective TissueX-linked Ehlers-Danlos syndrome · United States
- EDS AwarenessX-linked Ehlers-Danlos syndrome · United States
- The Zebra NetworkX-linked Ehlers-Danlos syndrome · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with X-linked Ehlers-Danlos syndrome.
Explore research for X-linked Ehlers-Danlos syndrome
Explore actively recruiting X-linked Ehlers-Danlos syndrome studies with HealthSpark.
Find actively recruiting studies for X-linked Ehlers-Danlos syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting X-linked Ehlers-Danlos syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for X-linked Ehlers-Danlos syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your X-linked Ehlers-Danlos syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.