Classical-like Ehlers-Danlos syndrome type 2

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ORPHA:536532OMIM:618000Q79.6
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Overview

Classical-like Ehlers-Danlos syndrome type 2 (also written as clEDS type 2) is a rare inherited connective tissue disorder. Connective tissue is like the body's glue — it holds skin, joints, blood vessels, and organs together. When this tissue does not work properly, many parts of the body can be affected. clEDS type 2 is caused by changes (variants) in the AEBP1 gene, which provides instructions for making a protein that helps build and maintain connective tissue. People with clEDS type 2 often have very stretchy or fragile skin that bruises easily and may take longer to heal after cuts or injuries. Joints tend to be loose and flexible beyond the normal range, which is called hypermobility. This can lead to frequent joint dislocations and chronic pain. Some people also experience muscle weakness, which can affect how they move and get around. Facial features may look slightly different from other family members, and some individuals have a mild intellectual disability or learning differences. There is currently no cure for clEDS type 2. Treatment focuses on managing symptoms, protecting joints, and improving quality of life. A team of specialists — including geneticists, physiotherapists, and pain specialists — work together to create a care plan tailored to each person. Early diagnosis is important so that the right support can be put in place as soon as possible.

Also known as:

Key symptoms:

Very stretchy or elastic skinFragile skin that bruises easilySlow wound healing or wide scars after injuriesLoose, flexible joints that go beyond the normal range of movement (hypermobility)Frequent joint dislocations or subluxations (partial dislocations)Chronic joint and muscle painMuscle weaknessMild intellectual disability or learning difficulties in some peopleSlightly unusual facial featuresFatigue and low energySoft, doughy skin texture

Clinical phenotype terms (50)— hover any for plain English
HammertoeHP:0001765Hallux valgusHP:0001822Widened atrophic scarHP:0031158Ventral herniaHP:0002933Knee dislocationHP:0004976Prominent veins on trunkHP:0007457Piezogenic pedal papulesHP:0025509
Inheritance

Autosomal recessive

Passed on when both parents carry the same gene change; often skips generations

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Classical-like Ehlers-Danlos syndrome type 2.

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No actively recruiting trials found for Classical-like Ehlers-Danlos syndrome type 2 at this time.

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No specialists are currently listed for Classical-like Ehlers-Danlos syndrome type 2.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Classical-like Ehlers-Danlos syndrome type 2.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Classical-like Ehlers-Danlos syndrome type 2

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Caregiver 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.What genetic testing do you recommend to confirm the diagnosis, and how long will results take?,Which specialists should be part of my care team, and how often should I see them?,What physiotherapy exercises are safe for me, and which activities should I avoid to protect my joints?,Are there any clinical trials or research studies I could participate in?,How should I manage skin injuries at home, and when should I go to the emergency room?,What support is available for learning difficulties or school accommodations?,Should other family members be tested for this condition?

Common questions about Classical-like Ehlers-Danlos syndrome type 2

What is Classical-like Ehlers-Danlos syndrome type 2?

Classical-like Ehlers-Danlos syndrome type 2 (also written as clEDS type 2) is a rare inherited connective tissue disorder. Connective tissue is like the body's glue — it holds skin, joints, blood vessels, and organs together. When this tissue does not work properly, many parts of the body can be affected. clEDS type 2 is caused by changes (variants) in the AEBP1 gene, which provides instructions for making a protein that helps build and maintain connective tissue. People with clEDS type 2 often have very stretchy or fragile skin that bruises easily and may take longer to heal after cuts or i

How is Classical-like Ehlers-Danlos syndrome type 2 inherited?

Classical-like Ehlers-Danlos syndrome type 2 follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.