Living with Progressive pseudorheumatoid dysplasia
A genetic joint condition starting in childhood that causes joint pain, stiffness, and growth changes in the spine.
Understanding Progressive pseudorheumatoid dysplasia
It usually begins between ages 3 and 8, with an unusual walk, tiredness with activity, and stiff finger and knee joints. Over time, fingers can stay bent, finger and knee joints can look enlarged, and hip pain is common by the teen years. Adults are usually shorter than their peers. It is often mistaken for juvenile rheumatoid arthritis, but PPRD joint problems are not caused by inflammation.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Joint pain and stiffness
- Enlarged finger and knee joints
- Permanently bent fingers (camptodactyly)
- Tiredness and muscle weakness
- Flattened spine bones (platyspondyly)
- Short trunk and short stature
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.
- 3Consider genetic testing
Changes in CCN6 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Little People of America may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- Expert care
- Expert lists: Little People of America
- 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 Little People of America and other patient organizations
- 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
This condition is caused by changes in the CCN6 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: pprd; progressive pseudorheumatoid arthropathy of childhood; spondyloepiphyseal dysplasia tarda with progressive arthropathy; spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome
Patient organizations
- Little People of AmericaProgressive pseudorheumatoid dysplasia · United States
- Arthritis FoundationProgressive pseudorheumatoid dysplasia · United States
You are more than your diagnosis
Perspectives from people navigating life with Progressive pseudorheumatoid dysplasia.
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