Living with Progressive non-infectious anterior vertebral fusion
A rare early childhood spine condition in which bones in the back slowly fuse and the spine curves forward.
Understanding Progressive non-infectious anterior vertebral fusion
The bones in the middle or lower back gradually become stiff and fused (ankylosis), often with a forward curve of the upper back (kyphosis). GARD notes distinctive features on X-rays. Some people also have certain facial features.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hunched upper back (kyphosis)
- Sideways curve of the spine (scoliosis)
- Spine bones that are fused or shaped differently
- Round or flat face
- Small lower jaw (micrognathia)
- Wide-set eyes (hypertelorism)
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 bone and joint specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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
GARD says gene changes cause this condition. It doesn't name a gene or describe how it is inherited yet.
Also known as: copenhagen syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Progressive non-infectious anterior vertebral fusion.
Explore research for Progressive non-infectious anterior vertebral fusion
Explore actively recruiting Progressive non-infectious anterior vertebral fusion studies with HealthSpark.
Find actively recruiting studies for Progressive non-infectious anterior vertebral fusion 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
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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