Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome: The First Familial Case in China and Novel Mutations of the Proteoglycan 4 Gene. Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome is a rare autosomal recessive disorder characterized by camptodactyly, noninflammatory arthropathy, progressive coxa vara, and aseptic pericarditis. It is more common in countries with high
Radiographic Remodeling of the Proximal Phalangeal Head Using a Stretching Exercise in Patients With Camptodactyly. The aims of this study were to verify proximal phalangeal head normalization after a stretching exercise in patients with infantile-type camptodactyly and to propose radiographic indices for quantifying bony deformities. Forty-eight fingers of 20 patients with camptodactyly were . The intra- and interobserver reliability of both parameters was assessed. Those parameters of the patients were compared with those of 177 fingers of 80 children without camptodactyly. The extent of proximal interphalangeal (PIP) joint flexion contracture was used to evaluate clinical outcomes resulting from nonsurgical treatment. Qualitative assessments of proximal phalangeal head remodeling exhibited
Camptodactyly Treatment for the Lesser Digits. Camptodactyly of the lesser digits is commonly seen in patients with arthrogryposis. The flexed posture of the digit can be functionally limiting and necessitate surgical treatment to improve grasp function. In digits with normal bony anatomy, a lateral stiletto-shaped transposition flap combined with flexor digitorum superficialis tendon release
Camptodactyly: An unsolved area of plastic surgery Camptodactyly refers to permanent flexion contracture at the proximal interphalangeal joint. Most cases are limited to fifth-finger involvement. Although common, the treatment of camptodactyly is controversial. Many published studies have emphasized conservative treatment, while others have described surgical procedures. The problem Clinic as excellent, good, fair, and poor. Fourteen patients with 15 fingers underwent surgery, and the results achieved were as follows: excellent, 0; good, 1; fair, 6; poor, 8. The treatment of camptodactyly still remains controversial, and hence proper planning individualized to each patient is needed to achieve the maximal improvement with realistic goals. Although we performed individualised
The Efficacy of Yttrium-90 Radiosynovectomy in Patients with Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome Camptodactyly-arthropathy-coxa-vara-pericarditis (CACP) syndrome is an autosomal recessive disorder caused by mutations in gene that encodes for proteoglycan 4, the main lubricant for joints and tendon surfaces. It is a non-inflammatory arthropathy, characterized by joint
Protein-losing enteropathy in camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome. Camptodactyly-arthropathy-coxa vara-pericarditis (CACP, OMIM: #208250) syndrome is a rare autosomal recessive disease that can be difficult to recognise not only because of its wide clinical variability but also because of its clinical resemblance to juvenile idiopathic arthritis (JIA). PRG4 is the only gene so far known to be associated with CACP syndrome. Children with CACP syndrome lack the glycoprotein lubricin due to recessive mutations in PRG4. Lubricin serves as a lubricant in joints, tendons and visceral cavities (pleural cavity, pericardium) and inhibits synovial proliferation. Children with CACP syndrome suffer from congenital camptodactyly, arthropathy, coxa vara and sometimes
Exome Sequencing of a Pedigree Reveals S339L Mutation in the TLN2 Gene as a Cause of Fifth Finger CamptodactylyCamptodactyly is a digit deformity characterized by permanent flexion contracture of one or both fifth fingers at the proximal interphalangeal joints. Though over 60 distinct types of syndromic camptodactyly have been described, only one disease locus (3q11.2-q13.12) for nonsyndromic camptodactyly has been identified. To identify the genetic defect for camptodactyly in a four-generation Chinese Han family, exome and Sanger sequencings were conducted and a missense variant, c.1016C>T (p.S339L), in the talin 2 gene (TLN2) was identified. The variant co-segregated with disease in the family and was not observed in 12 unaffected family members or 1,000 normal controls, suggesting that p.S339L
The status of dermatoglyphics as a biomarker of Tel Hashomer camptodactyly syndrome: a review of the literature Tel Hashomer camptodactyly syndrome is a rare disease and only a few cases have been reported. Dermatoglyphics potentially provide relevant phenotypic biomarkers that were initially noted as a vital clinical feature of this disease. Dermatoglyphics possibly can indicate growth disturbances that took place during early fetal development at the time when epidermal ridges were being formed into discernable patterns. Consequently, these intrauterine effects might well have occurred in association with the expression of the Tel Hashomer camptodactyly syndrome. Therefore, this review was undertaken to provide, as far as we know, the first attempt to broadly assess dermatoglyphic
Evaluation of a stepwise surgical approach to camptodactyly. Camptodactyly is common, but its treatment remains controversial. Multiple deforming forces have been implicated in its pathogenesis. This study evaluates a logical clinical assessment and corresponding stepwise surgical plan. Eighteen consecutive fingers (12 children) had surgery to treat camptodactyly of the proximal interphalangeal tenotomy release performed. This stepwise surgical approach effectively treats severe camptodactyly and appears to confirm the authors' suspected pathogenesis of the disorder. Lumbricals and interossei were not involved. Therapeutic, IV.
Soft-Tissue Surgery for Camptodactyly Corrects Skeletal Changes. This study demonstrates the potential for radiographic and clinical improvement with surgical correction of camptodactyly. Although historically these radiographic changes have been held to be permanent, the authors encourage surgical intervention for digits with severe flexion contracture or progressive radiographic changes before arthrodesis. Fifteen of the remaining 16 digits (94 percent) had substantial improvement or full restoration of radiographic articular congruency at average follow-up of 9 months (range, 3 to 18 months). The only joint that did not remodel fully was the one that did not have complete clinical correction. Even in patients with severe radiographic changes from camptodactyly, surgery can effectively improve
Granulomatous disease associated with NOD2 sequence variants and familial camptodactyly: An intermediate form of NOD2-associated diseases? Nucleotide-binding oligomerization domain-containing protein-2 (NOD2)-associated diseases may be a spectrum of disease. We report two families who exhibited an intermediate form of Blau syndrome and NOD2-associated autoinflammatory disease (NAID). We identified two families with granulomatous disease. The clinical phenotypes and genotypes of these two families were reviewed and analyzed. The proband in family 1 was a white 57-year-old woman, with camptodactyly (age 6 years), inflammatory polyarthritis and dermatitis (age of 30 years), and cough, dyspnea, dry eyes, parotid gland enlargement, and fever. A computerized tomography showed mediastinal
Camptodactyly-arthropathy-coxavara-pericarditis syndrome in Saudi Arabia: clinical and molecular genetic findings in 22 patients. Camptodactyly-arthropathy-coxavara-pericarditis (CACP) syndrome is a rare autosomal recessive disorder caused by mutations in the gene proteoglycan 4 (PRG4), affecting lubricin production, which is an essential protein for joint function. Manifestations vary between affected individuals with camptodactyly, early-onsetnon-inflammatory arthropathy, coxa vara deformity and non-inflammatory pericarditis. To describe the clinical, laboratory, radiological and genetic findings of CACP syndrome in children from Saudi Arabia. Medical records of all the children with CACP syndrome seen between June 1990 and June 2012 at King Faisal Specialist Hospital and Research Center
FBN2 pathogenic variants in congenital contractural arachnodactyly with severe cardiovascular manifestations. Congenital contractural arachnodactyly (CCA) is an extremely rare autosomal dominant connective tissue genetic disorder caused by pathogenic variants in FBN2. CCA is characterized by arachnodactyly, camptodactyly, contracture of major joints, scoliosis, pectus deformities, and crumpled
, MDAssistant ProfessorOrthopaedicsWake Forest University Baptist Medical CenterWinston-SalemNCDisclosuresZL declares that he has no competing interests. * * Differentials * Trigger finger * Epithelioid sarcoma * Camptodactyly More Differentials * Guidelines * Radiation therapy for early Dupuytren's disease More Guidelines * * * * * * * Log in or subscribe to access all of BMJ
A novel mutation in the proteoglycan 4 gene causing CACP syndrome: two sisters report. Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome, caused by biallelic pathogenic mutations in the proteoglycan 4 (PRG4) gene, is characterized by early-onset camptodactyly, noninflammatory arthropathy, coxa vara deformity, and rarely, pericardial effusion. This syndrome can mimic juvenile
CATSHL syndrome, a new family and phenotypic expansion. We report the case of a 12-year-old girl and her father who both had marked postnatal tall stature, camptodactyly and clinodactyly, scoliosis and juvenile-onset hearing loss. The CATSHL (CAmptodactyly - Tall stature - Scoliosis - Hearing Loss syndrome) syndrome was suspected, and molecular analysis revealed a hitherto unreported, monoallelic
demonstrated that the most common type of CULA was malformations (1,092 cases), followed by dysplasias (144 cases), syndromes (51 cases), and deformations (48 cases). Among the malformations, radial polydactyly was the most common anomaly (732 cases), followed by simple syndactyly (66 cases). Among the dysplasias, camptodactyly was the most common anomaly (52 cases), followed by thumb-in-palm deformity (45 cases) and vascular tumors (17 cases). In the deformations, constriction ring sequence accounted for all cases. Poland syndrome (21 cases) occurred most often in the category of syndromes. The results of this study show that radial polydactyly (732 cases, 55%) is the most common CULA in southern Taiwan, followed by simple syndactyly (66 cases, 5%) and then camptodactyly (52 cases, 4%). The OMT
reported. We investigated the underlying genetic cause of autosomal recessive nonsyndromic postaxial polydactyly in four consanguineous Pakistani families. Some family members with postaxial polydactyly also present with syndactyly, camptodactyly, or clinodactyly. Analysis of the exome sequence data revealed two novel homozygous frameshift deletions in EFCAB7: [c.830delG;p.(Gly277Valfs*5)]; in three
Total Hip Arthroplasty in Adolescents With Severe Hip Arthropathy and Dysplasia Associated With Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome. Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome is a rare disorder. Patients with this syndrome experience early symptomatic arthropathy of the hips. We report a case of adolescent siblings with bilateral arthropathy associated