Living with Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
A rare genetic joint condition with bent fingers, joint disease, hip changes, and sometimes fluid around the heart or lungs.
Understanding Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
The name lists the main symptoms: bent fingers (camptodactyly), joint disease (arthropathy), and changes in the hip joint with shorter legs and a possible limp (coxa vara). Some people have extra cells in the joint lining or fluid around the heart or lungs. It can be mistaken for juvenile idiopathic arthritis at first. It starts from birth to childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Permanently bent fingers and toes (camptodactyly)
- Joint disease in several joints (arthropathy)
- Hip changes (coxa vara)
- Wrist swelling
- Thin bones (osteoporosis)
- Fluid around the heart or lungs
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 autoimmune and inflammatory disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in PRG4 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- autoimmune and inflammatory disease specialists (rheumatologists); 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 CACP Research Foundation
- 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
Changes in the PRG4 gene cause this condition. This gene makes a protein that lubricates the joints. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: arthropathy camptodactyly syndrome; arthropathy-camptodactyly syndrome; cacp; cacp (camptodactyly, arthropathy, coxa-vara, pericarditis) syndrome; cacp syndrome; camptodactyly-arthropathy-coxa-vara-pericarditis syndrome
Patient organizations
- CACP Research FoundationCamptodactyly-arthropathy-coxa vara-pericarditis syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Camptodactyly-arthropathy-coxa vara-pericarditis syndrome.
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