U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Progressive pseudorheumatoid dysplasia

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
view full author information

Available tests

33 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (32 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

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.