Living with Congenital pseudoarthrosis of the limbs
A rare condition in which a long bone in an arm or leg does not heal or join, creating a false joint.
Understanding Congenital pseudoarthrosis of the limbs
The false joint moves abnormally and the bone bends at that spot. This can lead to progressive bowing of the forearm or leg, a shorter limb, and fractures that do not heal. It is often linked with neurofibromatosis and osteofibrous dysplasia.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Its summary describes these features:
- Bone that does not join or heal
- Bowing of the forearm or leg
- Shorter limb
- Fractures that do not heal
- Abnormal movement at the bone
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 changes in genes cause this condition. It doesn't name a gene.
Also known as: congenital pseudarthrosis of the limbs; congenital pseudoarthrosis of limb
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 Congenital pseudoarthrosis of the limbs.
Explore research for Congenital pseudoarthrosis of the limbs
Explore actively recruiting Congenital pseudoarthrosis of the limbs studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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