progressive pseudorheumatoid arthropathy of childhood

A osteochondrodysplasia characterized by autosomal recessive inheritance with typical onset around 3 years of age, progressive severe degenerative joint disease, platyspondyly, epiphyseal enlargement but absence of inflammatory joint disease that has_material_

A osteochondrodysplasia characterized by autosomal recessive inheritance with typical onset around 3 years of age, progressive severe degenerative joint disease, platyspondyly, epiphyseal enlargement but absence of inflammatory joint disease that has_material_basis_in homozygous or compound heterozygous mutation in the CHST3 gene on chromosome 10q22.

Signs and symptoms

• Joint swelling
• Abnormal foot morphology
• Kyphoscoliosis
• Metaphyseal widening
• Sclerotic vertebral endplates
• Joint stiffness
• Gait disturbance
• Genu varum
• Camptodactyly of finger
• Arthropathy

Also known as: spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome