Progressive non-infectious anterior vertebral fusion

Last reviewed

🖨 Print for my doctorAdvocacy Hub →
ORPHA:2062Q87.8
Who is this for?
Show terms as
1Active trials1Specialists8Treatment centers

Where are you in your journey?

UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
Report missing data

Overview

Progressive non-infectious anterior vertebral fusion (also known as Copenhagen syndrome or progressive anterior vertebral fusion) is an extremely rare skeletal disorder characterized by the progressive fusion of vertebral bodies, primarily affecting the anterior (front) portions of the spine. The condition typically manifests in childhood and leads to progressive narrowing and eventual bony fusion of the anterior aspects of multiple vertebral bodies, resulting in increasing kyphosis (forward curvature of the spine) and restricted spinal mobility. The thoracic and lumbar spine are most commonly affected. The hallmark clinical features include progressive spinal stiffness, kyphosis, and back pain. Radiographic imaging reveals characteristic anterior vertebral body fusion with narrowing or obliteration of the intervertebral disc spaces anteriorly, while the posterior elements of the spine may remain relatively preserved. The condition is distinguished from infectious spondylitis and other inflammatory causes of vertebral fusion by the absence of any infectious or inflammatory etiology. Additional features may include short stature and restricted chest expansion depending on the extent and location of spinal involvement. There is no specific curative treatment for progressive non-infectious anterior vertebral fusion. Management is primarily supportive and symptomatic, focusing on pain management, physical therapy to maintain mobility and function, and orthopedic monitoring. In severe cases with significant kyphotic deformity or neurological compromise, surgical intervention may be considered. The condition is progressive, and long-term follow-up with orthopedic and rehabilitation specialists is recommended.

Also known as:

Clinical phenotype terms— hover any for plain English:

HemivertebraeHP:0002937Abnormal intervertebral disk morphologyHP:0005108
Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Childhood

Begins in childhood, roughly ages 1 to 12

Orphanet ↗NORD ↗

FDA & Trial Timeline

1 event
Oct 2025Pivotal Study of the Velocity™ pAVF System

Venova Medical — NA

TrialRECRUITING

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Treatments

No FDA-approved treatments are currently listed for Progressive non-infectious anterior vertebral fusion.

1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.

View clinical trials →

Clinical Trials

1 recruitingView all trials with filters →
N/A1 trial
Pivotal Study of the Velocity™ pAVF System
N/A
Actively Recruiting
· Sites: Dothan, Alabama; Concord, California +8 more · Age: 1880 yrs

Specialists

1 foundView all specialists →
AM
Adrian Ebner, MD
Specialist
PI on 5 active trials

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 Progressive non-infectious anterior vertebral fusion.

Search all travel grants →NORD Financial Assistance ↗

Community

Open Progressive non-infectious anterior vertebral fusionForum →

No community posts yet. Be the first to share your experience with Progressive non-infectious anterior vertebral fusion.

Start the conversation →

Latest news about Progressive non-infectious anterior vertebral fusion

Disease timeline:

New recruiting trial: Pivotal Study of the Velocity™ pAVF System

A new clinical trial is recruiting patients for Progressive non-infectious anterior vertebral fusion

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.

Common questions about Progressive non-infectious anterior vertebral fusion

What is Progressive non-infectious anterior vertebral fusion?

Progressive non-infectious anterior vertebral fusion (also known as Copenhagen syndrome or progressive anterior vertebral fusion) is an extremely rare skeletal disorder characterized by the progressive fusion of vertebral bodies, primarily affecting the anterior (front) portions of the spine. The condition typically manifests in childhood and leads to progressive narrowing and eventual bony fusion of the anterior aspects of multiple vertebral bodies, resulting in increasing kyphosis (forward curvature of the spine) and restricted spinal mobility. The thoracic and lumbar spine are most commonly

At what age does Progressive non-infectious anterior vertebral fusion typically begin?

Typical onset of Progressive non-infectious anterior vertebral fusion is childhood. Age of onset can vary across affected individuals.

Are there clinical trials for Progressive non-infectious anterior vertebral fusion?

Yes — 1 recruiting clinical trial is currently listed for Progressive non-infectious anterior vertebral fusion on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.

Which specialists treat Progressive non-infectious anterior vertebral fusion?

1 specialists and care centers treating Progressive non-infectious anterior vertebral fusion are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.