Overview
X-linked Ehlers-Danlos syndrome (also called X-linked EDS, or XEDS) is a rare inherited connective tissue disorder caused by changes in the AIFM1 gene on the X chromosome. Connective tissue is like the body's glue — it holds skin, joints, blood vessels, and organs together. When this tissue does not form properly, many parts of the body can be affected. The most noticeable features include very stretchy or fragile skin, joints that move beyond their normal range (hypermobility), and easy bruising. Some people also experience muscle weakness, hearing loss, and problems with the nervous system. Because it is X-linked, the condition mainly affects males, though females who carry one changed copy of the gene may have milder symptoms. There is currently no cure for X-linked EDS. Treatment focuses on managing symptoms, protecting joints, preventing injuries, and improving quality of life. A team of specialists — including geneticists, physiotherapists, and cardiologists — typically work together to support people living with this condition. Early diagnosis is important so that the right care and monitoring can begin as soon as possible.
Also known as:
Key symptoms:
Very stretchy or fragile skin that tears or bruises easilyJoints that are loose and bend further than normal (hypermobility)Chronic joint and muscle painMuscle weaknessHearing loss (sensorineural type)Fatigue and low energySlow wound healingNeurological problems such as balance difficulties or coordination issuesDelayed motor development in childhoodSoft, velvety skin texture
Clinical phenotype terms (10)— hover any for plain English
X-linked recessive
Carried on the X chromosome; typically affects males more than females
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
10 eventsData sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for X-linked Ehlers-Danlos syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for X-linked Ehlers-Danlos syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Financial Resources
5 resourcesKANUMA
Alexion Pharmaceuticals, Inc.
KANUMA Patient Support (Alexion OneSource)
VIMIZIM
BioMarin Pharmaceutical Inc.
VIMIZIM Patient Support (BioMarin RareConnections)
POLIVY
Genentech, Inc.
POLIVY Patient Support (Genentech Access Solutions)
VYALEV
AbbVie Inc.
VYALEV Patient Support (AbbVie Patient Assistance)
ZYRTEC
Kenvue Brands LLC
Travel Grants
No travel grants are currently matched to X-linked Ehlers-Danlos syndrome.
Community
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Start the conversation →Latest news about X-linked Ehlers-Danlos syndrome
2 articlesCaregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Which specific change in the AIFM1 gene does my family have, and what does that mean for my symptoms?,What specialists should be part of my care team, and how often should I see each one?,Are there any activities or exercises I should avoid to protect my joints?,Should my female relatives be tested as potential carriers, and what does being a carrier mean for them?,What warning signs should prompt me to go to the emergency room?,Are there any clinical trials or research studies I could participate in?,What support or accommodations can I request at school or work because of my condition?
Common questions about X-linked Ehlers-Danlos syndrome
What is X-linked Ehlers-Danlos syndrome?
X-linked Ehlers-Danlos syndrome (also called X-linked EDS, or XEDS) is a rare inherited connective tissue disorder caused by changes in the AIFM1 gene on the X chromosome. Connective tissue is like the body's glue — it holds skin, joints, blood vessels, and organs together. When this tissue does not form properly, many parts of the body can be affected. The most noticeable features include very stretchy or fragile skin, joints that move beyond their normal range (hypermobility), and easy bruising. Some people also experience muscle weakness, hearing loss, and problems with the nervous system.
How is X-linked Ehlers-Danlos syndrome inherited?
X-linked Ehlers-Danlos syndrome follows a x-linked recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Which specialists treat X-linked Ehlers-Danlos syndrome?
1 specialists and care centers treating X-linked Ehlers-Danlos syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.
What treatment and support options exist for X-linked Ehlers-Danlos syndrome?
5 patient support programs are currently tracked on UniteRare for X-linked Ehlers-Danlos syndrome. See the treatments and support programs sections for copay assistance, eligibility, and contact details.