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Progressive pseudorheumatoid dysplasia

Synonyms
Autosomal recessive spondyloepiphyseal dysplasia tarda; Progressive Pseudorheumatoid Arthropathy of Childhood; SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH PROGRESSIVE ARTHROPATHY; Spondyloepiphyseal dysplasia tarda progressive arthropathy
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Progressive Pseudorheumatoid Dysplasia
Progressive pseudorheumatoid dysplasia (PPD) is a skeletal dysplasia characterized by predominant involvement of articular cartilage with progressive joint stiffness and enlargement in the absence of inflammation. Onset – typically between ages three and six years – begins with the involvement of the interphalangeal joints. Over time, involvement of large joints and the spine causes significant joint contractures, gait disturbance, and scoliosis and/or kyphosis, resulting in abnormal posture and significant morbidity. Despite the considerable arthropathy, pain is not a major presenting feature of this condition. Initially height is normal; however, short stature (<3rd centile) becomes evident in adolescence as the skeletal changes progress.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Gandham SriLakshmi Bhavani
Hitesh Shah
Anju Shukla
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Available tests

35 tests are in the database for this condition.

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Clinical tests (34 available)

Molecular Genetics Tests

Research tests

Genes See tests for all associated and related genes

  • Also known as: LIBC, PPAC, PPD, PPRD, WISP-3, WISP3, CCN6
    Summary: cellular communication network factor 6

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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