Arthropathy, Progressive Pseudorheumatoid, of Childhood

Alternative Names

  • PPAC
  • Progressive Pseudorheumatoid Arthropathy of Childhood
  • Spondyloepiphyseal Dysplasia Tarda with Progressive Arthropathy
  • SEDT-PA
  • Progressive Pseudorheumatoid Dysplasia
  • PPD
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

OMIM Number

208230

Mode of Inheritance

Autosomal recessive

Gene Map Locus

6q21

Description

Progressive pseudorheumatoid arthropathy of childhood (PPAC) is an autosomal recessive condition characterized by generalized bone-cartilage dysplasia, progressive arthropathy, pseudo-rheumatoid arthritis, and platyspondyly. It is regarded as a subtype of spondyloepiphyseal dysplasia (SED) and is caused by mutations in the WISP3 gene. PPAC has an early age of onset, with most affected children presenting with disease features by the age of 8-years. The major presenting features include difficulty in walking, muscle weakness, pain, arthropathy, and skeletal deformities.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
208230.6JordanUnknownYes Joint stiffness; Joint swelling; Limb ... NM_003880.3:c.246delHomozygousAutosomal, RecessiveHurvitz et al. 1999 Patient from 'Family...
208230.7JordanUnknownYes Joint stiffness; Joint swelling; Lim... NM_003880.3:c.48+2dupHomozygousAutosomal, RecessiveHurvitz et al. 1999 Patient from 'Family...
208230.8JordanUnknownYes Joint stiffness; Joint swelling; L... NM_003880.3:c.168G>THomozygousAutosomal, RecessiveHurvitz et al. 1999 Patient from 'Family...
208230.2LebanonMaleNoYes Waddling gait; Joint swelling; Abnor... NM_003880.3:c.156C>A, NM_003880.3:c.248G>AHomozygousAutosomal, RecessiveDelague et al. 2005 Patient from 'Family...
208230.G.1.2LebanonFemaleYesYes Waddling gait; Joint swelling; Abnorma... NM_003880.3:c.156C>A, NM_003880.3:c.248G>AHomozygousAutosomal, RecessiveDelague et al. 2005 2 siblings from 'Fam...
208230.3LebanonFemaleNoYes Waddling gait; Joint swelling; Abnorma... NM_003880.3:c.156C>A, NM_003880.3:c.248G>AHomozygousAutosomal, RecessiveDelague et al. 2005 Patient from 'Family...
208230.G.1.5PalestineMaleYesYes Waddling gait; Abnormality of joint mob... NM_003880.3:c.156C>A, NM_003880.3:c.248G>AHomozygousAutosomal, RecessiveDelague et al. 2005 3 patients from 'Fam...
208230.4Saudi ArabiaUnknownYes Joint stiffness; Joint swelling; Limb ... NM_003880.3:c.246delHomozygousAutosomal, RecessiveHurvitz et al. 1999 Patient from 'Family...
208230.5Saudi ArabiaUnknownYes Joint stiffness; Joint swelling; Limb ... NM_003880.3:c.246delHomozygousAutosomal, RecessiveHurvitz et al. 1999 Patient from 'Family...
208230.G.1.6SyriaUnknownYesYes Waddling gait; Joint swelling; Abnorma... NM_003880.3:c.536_537delHomozygousAutosomal, RecessiveDelague et al. 2005 2 siblings from 'Fam...
208230.G.1.1SyriaMaleYesYes Waddling gait; Joint swelling; Abnorma... NM_003880.3:c.589G>CHomozygousAutosomal, RecessiveDelague et al. 2005 3 siblings from 'Fam...
208230.1SyriaUnknownYesYes Waddling gait; Joint swelling; Abnorma... NM_003880.3:c.156C>A, NM_003880.3:c.248G>AHomozygousAutosomal, RecessiveDelague et al. 2005 Patient from 'Family...
208230.G.1.3SyriaFemaleYesYes Waddling gait; Joint swelling; Abnorma... NM_003880.3:c.156C>A, NM_003880.3:c.248G>AHomozygousAutosomal, RecessiveDelague et al. 2005 2 siblings from 'Fam...
208230.G.1.4SyriaFemaleYesYes Waddling gait; Joint swelling; Abnorma... NM_003880.3:c.156C>A, NM_003880.3:c.248G>AHomozygousAutosomal, RecessiveDelague et al. 2005 4 siblings from 'Fam...

Other Reports

Jordan

El-Shanti et al. (1997) described a consanguineous Jordanian family with at least six members from two generations affected with progressive pseudorheumatoid arthropathy of childhood (PPAC). Homozygosity mapping using DNA pooling approach performed by El-Shanti et al. (1998) showed linkage in a 20 cM region on the long arm of chromosome 6. However, no mutations were identified on examining the COL10A1 gene present in this region as a candidate gene.

Hurvitz et al. (1999) used a positional candidate approach and identified WISP3 as the gene responsible for progressive pseudorheumatoid arthropathy of childhood (PPAC) in a set of PPAC patients, which included three unrelated Jordanians and two unrelated patients of Saudi Arabian origin.

Kuwait

Al-Awadi et al. (1984) reported an Arab family with multiple members affected with progressive pseudorheumatoid arthropathy of childhood (PPAC). Eight patients identified were all born to consanguineous parents, and were related through a common ancestor, indicating the autosomal recessive nature of the disease.

Morocco

Bennani et al. (2007) reported a 4-year-old girl with progressive pseudorheumatoid dysplasia. Two similarly affected family members, a brother and a paternal uncle, were also identified and diagnosed with progressive pseudorheumatoid dysplasia during this study.

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