OBSOLETE: Ehlers-Danlos syndrome, fibronectinemic type

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Overview

Ehlers-Danlos syndrome, fibronectinemic type (also sometimes called EDS with fibronectin deficiency or fibronectinemic EDS) is a rare and now considered obsolete subtype of Ehlers-Danlos syndrome (EDS) — a group of inherited connective tissue disorders. The term 'obsolete' means that modern medical classification systems no longer recognize this as a separate, well-defined subtype, largely because the scientific evidence supporting fibronectin as the primary cause was not confirmed in later research. Historically, this condition was described in a small number of patients who had features typical of EDS along with abnormalities in fibronectin, a protein that helps hold the body's connective tissues together. Connective tissue acts like the body's glue, supporting skin, joints, blood vessels, and internal organs. When it does not work properly, people can experience very stretchy or fragile skin, joints that move too far (hypermobility), chronic pain, and easy bruising. Because this subtype is no longer officially classified, patients who were previously given this diagnosis may now be reclassified under one of the currently recognized EDS subtypes or another connective tissue disorder. If you or a family member carries this diagnosis, speaking with a clinical geneticist is strongly recommended to get an updated evaluation using current diagnostic criteria.

Also known as:

Key symptoms:

Very stretchy or elastic skinSkin that bruises easilyJoints that move beyond their normal range (hypermobile joints)Chronic joint or muscle painSlow wound healing or unusual scarringFragile skin that tears more easily than normalFatigue and low energyJoint instability or frequent dislocations

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for OBSOLETE: Ehlers-Danlos syndrome, fibronectinemic type.

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No actively recruiting trials found for OBSOLETE: Ehlers-Danlos syndrome, fibronectinemic type at this time.

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No specialists are currently listed for OBSOLETE: Ehlers-Danlos syndrome, fibronectinemic type.

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 OBSOLETE: Ehlers-Danlos syndrome, fibronectinemic type.

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Community

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Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

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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.Since this EDS subtype is now considered obsolete, what current diagnosis best fits my symptoms?,Should I have updated genetic testing to look for a known EDS gene mutation?,What specialists should be part of my care team going forward?,Are there clinical trials or research studies I might be eligible for?,What physical activities are safe for me, and which should I avoid?,How can I best manage my joint pain and prevent dislocations day to day?,Are there any support groups or patient communities that could help me connect with others who have similar experiences?

Common questions about OBSOLETE: Ehlers-Danlos syndrome, fibronectinemic type

What is OBSOLETE: Ehlers-Danlos syndrome, fibronectinemic type?

Ehlers-Danlos syndrome, fibronectinemic type (also sometimes called EDS with fibronectin deficiency or fibronectinemic EDS) is a rare and now considered obsolete subtype of Ehlers-Danlos syndrome (EDS) — a group of inherited connective tissue disorders. The term 'obsolete' means that modern medical classification systems no longer recognize this as a separate, well-defined subtype, largely because the scientific evidence supporting fibronectin as the primary cause was not confirmed in later research. Historically, this condition was described in a small number of patients who had features typi