progressive pseudorheumatoid arthropathy of childhood
Findings
No curated finding names progressive pseudorheumatoid arthropathy of childhood yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Progressive pseudorheumatoid arthropathy (dysplasia) of childhood (PPAC; PPD) presents as spondyloepiphyseal dysplasia (SED) tarda with progressive arthropathy and is described as a specific autosomal recessive subtype of SED.
Definition from the Mondo Disease Ontology (MONDO:0008827), read 2026-09-29. CC BY 4.0.
Features
42 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Irregular vertebral endplatesHPOHP:0003301
- Very frequent (80% to 99% of cases)
- Joint swellingHPOHP:0001386
- Very frequent (80% to 99% of cases)
- Narrow small joints of the handHPOHP:0004267
- Very frequent (80% to 99% of cases)
- PlatyspondylyHPOHP:0000926
- Very frequent (80% to 99% of cases)
- Polyarticular arthropathyHPOHP:0005195
- Very frequent (80% to 99% of cases)
- Spondyloepiphyseal dysplasiaHPOHP:0002655
- Very frequent (80% to 99% of cases)
- Waddling gaitHPOHP:0002515
- Very frequent (80% to 99% of cases)
- Abnormal hip joint morphologyHPOHP:0001384
- Frequent (30% to 79% of cases)
- Abnormality of hand joint mobilityHPOHP:0006256
- Frequent (30% to 79% of cases)
- Abnormality of the elbowHPOHP:0009811
- Frequent (30% to 79% of cases)
- Abnormality of the kneeHPOHP:0002815
- Frequent (30% to 79% of cases)
- ArthralgiaHPOHP:0002829
- Frequent (30% to 79% of cases)
Reported absent (3)
- Abnormal circulating C-reactive protein concentrationHPOHP:0032436
- Abnormal erythrocyte sedimentation rateHPOHP:0025021
- Rheumatoid factor positiveHPOHP:0002923
Show the remaining 30
- CamptodactylyHPOHP:0012385
- Frequent (30% to 79% of cases)
- Easy fatigabilityHPOHP:0003388
- Frequent (30% to 79% of cases)
- Hyperconvex vertebral body endplatesHPOHP:0004603
- Frequent (30% to 79% of cases)
- Infancy onset short-trunk short statureHPOHP:0011406
- Frequent (30% to 79% of cases)
- Irregularity of vertebral bodiesHPOHP:0004582
- Frequent (30% to 79% of cases)
- Joint contracture of the handHPOHP:0009473
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CCN6HGNC:12771
- Definitive · ClinGen · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: progressive pseudorheumatoid arthropathy of childhood
- Also called
- spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome