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. [cags.org.ae]

Due to its presentation with joint stiffness and finger swelling, it is frequently misdiagnosed as polyarticular juvenile idiopathic arthritis (JIA). [acrabstracts.org]

However, the exact mechanism of the disease is not clear at the present. The clinical course of the present patient is typical for the disease. [docslide.net]

Clinical description Most patients present the disease before the age of 8 years (the onset varies between 2 and 11 years). Typically, there are no symptoms in the newborn period. [orpha.net]

Hum Genet 1998; 103: 604.9 van Buggenhout G, De Smet L, Maroteaux P, Fryns JP.Progressive pseudorheumatoid dysplasia: report of a patientwith symptoms present at birth. [myslide.es]

• Fatigue

  The disease manifests around the age of three to eight years and progresses with symptoms of early fatigue, muscle weakness, joint swelling and stiffness. The resulting functional limitations are often described as having a waddling gait. [scipers.com]

  Fatigue, muscle weakness, waddling gait, bowed legs and joint stiffness may be early manifestations. read more NGS/Del Dup Comprehensive Turnaround Time: Typically 1 to 2 weeks from receipt of a sample in the laboratory. [ctgt.net]

  Major symptoms include stiffness of joints, bony swellings of toes and fingers, weakened muscles, fatigue and bowed legs. [ashg.org]

• Turkish

  […] diagnosis of progressive pseudorheumatoid dysplasia in a patient with severe polyarthropathy. ( 12819927 ) Ehl S....Kirchhoff A. 2004 37 Mega os trigonum in progressive pseudorheumatoid dysplasia. ( 11819063 ) Oestreich AE 2002 38 An eleven-year-old female Turkish [malacards.org]

  An eleven-year-old female Turkish patient with progressive pseudorheuma-toid dysplasia mimicking juvenile idiopathic arthritis. Clin ExpRheumatol 2001; 19: 759.7 el-Shanti H, Murray JC, Semina EV, Beutow KH, Scherpbier T,al-Alami J. [myslide.es]

  An eleven- year-old female Turkish patient with progressive pseudorheuma- toid dysplasia mimicking juvenile idiopathic arthritis. Clin Exp Rheumatol 2001; 19: 759. 7 el-Shanti H, Murray JC, Semina EV, Beutow KH, Scherpbier T, al-Alami J. [docslide.net]

  Targeted analysis for pathogenic variants can include the following: c.156C>A (p.Cys52Ter) is the most frequent pathogenic variant in Turkish patients and accounts for approximately 28% of pathogenic variants worldwide [Author, review of the literature [ncbi.nlm.nih.gov]

  The phenotype of the male from family 1 in this study was no milder than that of the Turkish patient. [spandidos-publications.com]

• Soft Tissue Swelling

  The disease begins mostly between the ages of 2 to 8 years with progressive joint stiffness and pain, soft tissue swelling and deformities of multiple joints including the proximal interphalangeal joints of the hands. [lirias.kuleuven.be]

  He denied other signs of arthritis including erythema and soft tissue swelling. He had been evaluated in various hospitals without a defin- ite diagnosis. [docslide.net]

• Unable to Stand

  Most individuals also presented with a chest deformity due to rib and spine involvement and they were unable to stand and extend their joints. [nature.com]

• Platyspondyly

  Magnetic resonance imaging of thoracolumbar spine demonstrated irregularity in vertebral end-plates, multiple disk herniations, and platyspondyly (Figure 5). [archivesofrheumatology.org]

  Platyspondyly develops in late childhood and can be the first clue to the diagnosis. Enlargement of the phalangeal metaphyses develops subtly and is usually recognizable by 10 years. [amrita.edu]

  It is char- acterised with arthralgia, joint contractures, bony swelling of metacarpophalangeal and interphalangeal joints and platyspondyly. [docslide.net]

  The main clinical features are arthralgia, jointcontractures, enlarged metacarpophalangeal and interphalan-geal joints, platyspondyly and short stature. [myslide.es]

  […] joints ; Enlarged metacarpophalangeal joints ; Enlargement of the proximal femoral epiphysis ; Flattened epiphysis ; Genu varum ; Joint stiffness ; Joint swelling ; Kyphoscoliosis ; Metaphyseal widening ; Muscle weakness ; Osteoarthritis ; Osteoporosis ; Platyspondyly [mousephenotype.org]

• Short Trunk

  All patients developed short stature with height below the 3rd percentile and an abnormally short trunk, mainly due to vertebral dysplasia which became apparent during elementary school in most cases. [acrabstracts.org]

  Spine involvement develops in late childhood and adolescence leading to short trunk with thoracolumbar kyphosis. Adult height is usually below the 3rd percentile. Radiographic signs are relatively mild. [amrita.edu]

  […] stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. [mendelian.co]

  Spine involvement results in short trunk and hunching of the back (kyphosis). [2] It may initially be mistaken for juvenile rheumatoid arthritis, however people with this condition do not have the laboratory test results of juvenile rheumatoid arthritis [rarediseases.info.nih.gov]

  At 14 years of age, the boy presented at the clinic with short-trunk disproportionate dwarfism, scoliosis and a waddling gait. [journals.plos.org]

• Bony Swelling

  It is characterised with arthralgia, joint contractures, bony swelling of metacarpophalangeal and interphalangeal joints and platyspondyly. [doi.org]

  Major symptoms include stiffness of joints, bony swellings of toes and fingers, weakened muscles, fatigue and bowed legs. [ashg.org]

  It is char- acterised with arthralgia, joint contractures, bony swelling of metacarpophalangeal and interphalangeal joints and platyspondyly. [docslide.net]

  2 Bony enlargement of metacarpophalangeal andproximal interphalangeal jointsFigure 3 X-ray of the hands revealing swelling of themetacarpophalangeal and proximal interpahalangeal joints. [myslide.es]

  His examination was notable for bony swelling and restricted motion of the proximal and distal IP joints of the fingers and toes, limited range of motion in the wrists, flexion contractures of the elbows, markedly limited range of motion in both shoulders [academic.oup.com]

• Arthralgia

  It is characterised with arthralgia, joint contractures, bony swelling of metacarpophalangeal and interphalangeal joints and platyspondyly. [doi.org]

  It is char-acterised with arthralgia, joint contractures, bony swellingof metacarpophalangeal and interphalangeal joints andplatyspondyly. [myslide.es]

  It is char- acterised with arthralgia, joint contractures, bony swelling of metacarpophalangeal and interphalangeal joints and platyspondyly. [docslide.net]

  PPD patient symptoms were more severe with advancing age; and 3. in contrast with previously reported cases, arthralgia was not clearly observed in these two families, excluding the hip pain observed in the advanced stage of the disease. [journals.plos.org]

• Long Arm

  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. [cags.org.ae]

  Toour knowledge, this is the third case report of a patient withPPAC from Turkey (5,6).Initial mapping studies assigned the gene responsible forthe disease to the long arm of chromosome 6. [myslide.es]

  Initial mapping studies assigned the gene responsible for the disease to the long arm of chromosome 6. However, examination of COL10A1, which is a candidate gene in this region, did not reveal any mutations (7,8). [docslide.net]

• Short Neck

  Short neck Dentition normal Harrison sulcus seen Lordosis present Ul & LL muscles, Thenar and introssei wasting and contractures seen Widening of both major and minor joints seen 9. coxa-vara and genu valgum seen Flat foot seen Movements of all joints [slideshare.net]

  Short stature with a disproportionally shorttrunk, flattening of the vertebrae, short neck, pain and stiffnessof hips and osteoarhtritic degeneration of the coxofemoraljoints are main features of the syndrome. [myslide.es]

  Short stature with a disproportionally short trunk, flattening of the vertebrae, short neck, pain and stiffness of hips and osteoarhtritic degeneration of the coxofemoral joints are main features of the syndrome. [docslide.net]

  […] stature Inguinal hernia Joint stiffness Short neck Autosomal dominant inheritance Hearing impairment Epiphyseal dysplasia Metaphyseal widening Limb muscle weakness Hepatomegaly Splenomegaly Talipes equinovarus Congestive heart failure Respiratory failure [mendelian.co]

  The disorder manifests prominently in the skeletal system and presents with a disproportionately short stature, i.e., a short neck and trunk, and progressive swelling and stiffness in multiple joints. [journals.plos.org]

• Narrow Face

  […] mouth Proptosis Abdominal distention Short distal phalanx of finger Nail dysplasia Wide intermamillary distance Small hand Round face Wide nose Multiple joint dislocation Vertebral clefting Renal cyst Pes planus Smooth philtrum Narrow chest Abnormality [mendelian.co]

• Waddling Gait

  The resulting functional limitations are often described as having a waddling gait. Walking is difficult and can be managed with multilevel compensation movements only. [scipers.com]

  gait Associated Genes CCN6 (Withdrawn symbols: WISP-3, WISP3 ) Mouse Orthologs Ccn6 (Withdrawn symbols: ENSMUSG00000062074, Gm735, Wisp3 ) Source OMIM:208230 (names, synonyms, disease associated genes), Orphanet (disease classes), HGNC, Ensembl, MGI [mousephenotype.org]

  Fatigue, muscle weakness, waddling gait, bowed legs and joint stiffness may be early manifestations. read more NGS/Del Dup Comprehensive Turnaround Time: Typically 1 to 2 weeks from receipt of a sample in the laboratory. [ctgt.net]

Contributors: RM carried out the clinical workup and also drafted the manuscript. She will act as the guarantor for the paper. SV was responsible for the radiological aspects and co-drafted the manuscript. Funding : None. [indianpediatrics.net]

• Hepatocellular Carcinoma

  Loss or downregulation of WISP-3 is associated with breast cancers, colorectal cancers, and hepatocellular carcinoma as reduction of WISP-3 stimulates tumorigenesis. [ncbi.nlm.nih.gov]

Treatment - Progressive pseudorheumatoid arthropathy of childhood There is still no cure. Treatment may include pain medication and hip and knee joint replacement surgery at an early age. [checkorphan.org]

Management and treatment There is no specific treatment for PPAC. No clear prevention, improvement or slowing the disease course with anti-inflammatory drugs has been demonstrated. [orpha.net]

Affected children are referred to pediatric rheumatologists and orthopedic surgeons; however, signs of inflammation are absent and anti-inflammatory treatment is of little help. [amrita.edu]

Early diagnosis and treatment is required. Read more » [sehat.com]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

Prognosis - Progressive pseudorheumatoid arthropathy of childhood Not supplied. Treatment - Progressive pseudorheumatoid arthropathy of childhood There is still no cure. [checkorphan.org]

Prognosis PPAC does not affect life expectancy, but the progressive nature of the disease frequently requires joint replacement by early adulthood. The documents contained in this web site are presented for information purposes only. [orpha.net]

Therefore, follow-up periods should proceed to acquire progression and prognosis data. [journals.plos.org]

Confirmatory testing is in progress in the parents in order to confirm phase (cis/trans) of the variants and provide further support for the molecular etiology of the disorder in this family. [ashg.org]

Etiology The responsible gene WISP3 (mapping to human chromosome 6q22) encodes a secreted growth regulator. Diagnostic methods Diagnosis is based on clinical and radiographic findings. Molecular testing is available on research basis. [orpha.net]

Relapsing polychondritis is a rare autoimmune disorder of unknown etiology, characterized by episodic inflammation/destruction of cartilaginous structures including the ear, nose, peripheral joints and tracheobronchial tree.( 4, 12 ) Immune damage may [archivesofrheumatology.org]

Summary Epidemiology The prevalence has been estimated at 1/1,000,000 but it is likely to be higher in the Middle East and the Maghreb. [orpha.net]

Relevant External Links for WISP3 Genetic Association Database (GAD) WISP3 Human Genome Epidemiology (HuGE) Navigator WISP3 Atlas of Genetics and Cytogenetics in Oncology and Haematology: WISP3 No data available for Genatlas for WISP3 Gene WISP genes [genecards.org]

The pathophysiology of CCN6 variants resulting in PPD is not completely understood. However, studies show that WISP-3 expression is significantly reduced in the chondrocytes of individuals with PPD [ Zhou et al 2007 ]. [ncbi.nlm.nih.gov]

Aims of this study were to determine typical malpositions that arise during walking and to identify preventive strategies to reduce excessive joint damage. [ncbi.nlm.nih.gov]

[…] dysplasia, Spondyloepiphyseal dysplasia tarda - progressive arthropathy, Arthropathy- progressive pseudorheumatoid- of childhood Symptoms - Progressive pseudorheumatoid arthropathy of childhood Causes - Progressive pseudorheumatoid arthropathy of childhood Prevention [checkorphan.org]

Therapeutic preventive strategies therefore should consider continuous muscle power exercises, stretching programmes and restrictive weight control. [sg.tum.de]

No clear prevention, improvement or slowing the disease course with anti-inflammatory drugs has been demonstrated. [orpha.net]