progressive pseudorheumatoid arthropathy of childhood

MeSH: C535387ORPHA: 1159

Overview

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

Available Treatments (0)

No treatments linked yet

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Clinical Presentation

Signs and symptoms associated with progressive pseudorheumatoid arthropathy of childhood, sourced from HPO and Orphanet clinical annotations.

PlatyspondylyJoint swellingWaddling gaitSpondyloepiphyseal dysplasiaIrregular vertebral endplatesNarrow small joints of the handPolyarticular arthropathyWrist swellingMuscle weaknessLimitation of joint mobilityAbnormal hip joint morphologyScoliosisAbnormality of the kneeArthralgiaEasy fatigabilityThoracolumbar kyphoscoliosisShort statureIrregularity of vertebral bodiesHyperconvex vertebral body endplatesAbnormality of hand joint mobilityVertebral wedgingJoint contracture of the handAbnormality of the elbowInfancy onset short-trunk short statureCamptodactylyAbnormality of the neckCoxa varaGenu valgumAbnormal ilium morphologyGenu varumAbnormal shoulder morphologyHyperlordosisFlat capital femoral epiphysisEnlargement of the proximal femoral epiphysisBeaking of vertebral bodiesEnlarged interphalangeal jointsBroad femoral neckIrregular acetabular roofEnlarged epiphysesPeriarticular calcificationGeneralized osteoporosisShort femoral neck

Classification & Codes

MeSH Code

C535387

Orphanet Code

ORPHA:1159
progressive pseudorheumatoid arthropathy of childhood
MeSHC535387
OrphanetORPHA:1159
Treatments0 drug(s)
Symptoms on record42 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO