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Purpose: Camptodactyly, clasped thumbs, and windblown hands are distinctive features of distal arthrogryposis (DA). Current therapeutic interventions often yield suboptimal effects, predisposing patients to relapses and complications. This study explicates a corrective approach involving a progressive extension brace for the management of DA and evaluates its clinical outcomes. Methods: Between 2015 and 2023, progressive extension braces were used in 32 DA patients, with an average follow-up of 4.8 years. Patients were stratified by age into four groups: 0-1, 1-3, 3-7, and above 7 years. The correction of camptodactyly was assessed based on the total active movement (TAM) of metacarpophalangeal joints (MPJ) and proximal interphalangeal joints (PIPJ), as well as the extensor lag of PIPJ. Clasped thumb correction was evaluated by measuring the thumb-to-index finger metacarpal angle (M1M2 angle) and the degree of deviation at the first MPJ (M1P1 angle). The quality of life for the children was measured using PedsQL 4.0, while parental satisfaction was gauged using the FACE questionnaire. Results: Earlier intervention with a progressive extension brace yielded superior corrective results. Infants aged 0-1 year and toddlers aged 1-3 years achieved average TAM scores of 152° and 126° after correction; however, patients older than 3 years experienced a significant decrease in TAM with the same treatment. Infants and toddlers with DA showed improvement in the average extensor lag from 46° to 6°. The M1M2 angle increased from an average of 38° to 65°, with the M1P1 angle decreasing from an average of 43° to 5°. After the treatment, average PedsQL scores of 94.7 (parent-reported) and 89.3 (child-reported) were achieved. Among the 32 parents, 24 expressed high satisfaction, 5 expressed moderate satisfaction, and 3 expressed fair satisfaction. Conclusion: The early, progressive, and consistent use of an extension brace significantly improved joint mobility and corrected camptodactyly and clasped thumbs. It can be an effective approach to addressing hand deformities in patients with DA.

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Distal arthrogryposis type 5D (DA5D) is clinically characterized by knee extension contractures, distal joint contractures, clubfoot, micrognathia, ptosis, and scoliosis. We report nine affected individuals from eight unrelated Indian families with DA5D. Although the overall musculoskeletal phenotype is not very distinct from other distal arthrogryposis, the presence of fixed knee extension contractures with or without scoliosis could be an important early pointer to DA5D. We also report a possible founder variant in ECEL1 along with four novel variants and further expand the genotypic spectrum of DA5D.

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Our purpose is to report a patient with a novel variant in the fibrillin-1 (FBN1) gene causing the Marfan syndrome (MFS). The 29-year-old female patient with musculoskeletal, cardiovascular, and ocular findings compatible with the MFS had a novel pathogenic mutation on the FBN1 gene. We report on a patient whose clinical findings are compatible with the MFS. This patient's variant on the FBN1 gene leading to the syndrome has not been previously described. Additional investigations are needed to determine whether this variant contributes to the development of camptodactyly in patients with the syndrome.

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BACKGROUND: Campotodactyly-artrhropathy-coxa vara-pericarditis (CACP) syndrome is a very rare autosomal recessive genetic disorder. It is characterized by flexion contracture of the fifth finger (camptodactyly); noninflammatory arthropathy; decreased angle between the shaft and the head of the femur (coxa vara) and pericarditis. Its association with mitral stenosis has not yet been reported. Hereby we report this unique association with CACP syndrome. CASE: An eleven-year-old girl presented with non-productive cough, dyspnea, and orthopnea. She was diagnosed CACP syndrome at the age of seven and a biallelic frameshift mutation in the PRG4 gene was determined. The physical examination revealed pectus excavatum, camptodactyly, genu valgum, tachypnea and orthopnea. The functional capacity was NYHA III-IV. She had 2/6 soft pansystolic murmur at 4th left intercostal space and a rumbling diastolic murmur at apex. Echocardiography revealed an enlarged left atrium, severe stenotic mitral valve with a mean diastolic transmitral gradient of 22.5 mmHg, mild mitral regurgitation and mild apical pericardial effusion. The patient had mitral comissurotomy and partial pericardiectomy operation. Her post-operative transmitral gradient decreased to 6.9 mmHg and the pulmonary pressure was 30 mmHg. Her functional capacity increased to NYHA I-II. CONCLUSIONS: The main defect is the proteoglycan 4 protein which acts like a lubricant in articular and visceral surfaces. Therefore, the leading clinical feature is arthropathy. Cardiac involvement other than clinically mild pericarditis is not usually expected. Three types of proteoglycans (decorin, biglycan, and versican) are present in the mitral valve. This could be the reason of mitral valve involvement in rare cases as like ours. It is important that these patients undergo echocardiographic examination regularly.

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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 variant c.1861C>T (p.Arg621Cys) in FGFR3. This variant affects the same residue, but is different than, the variant p.Arg621His reported in the two families with dominant CATSHL described so far. Interestingly, peg-shaped incisors were observed in the proband, a feature never reported in CATSHL but typical of another FGFR3-related condition, LADD (Lacrimo - Auricolo - Dento - Digital) syndrome. The FGFR3 p.Arg621Cys variant seems to be a newly identified cause of CATSHL syndrome with some phenotypic overlap with the LADD syndrome.

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Camptodactyly is a relatively rare hand deformity presenting as the proximal interphalangeal joint's nontraumatic and progressive flexion contracture. Most cases are limited to the fifth finger. The severity and type of camptodactyly should be considered to optimize treatment. Since many structures at the finger base can be involved in the pathogenesis of the deformity, surgical treatment for this particular type of deformity is challenging. This paper aims to bring insight into camptodactyly's pathogenesis and treatment options. We discuss the indication and pitfalls of surgical treatment options for particular camptodactyly types and present a case of a fourteen-year-old boy who was admitted to our department with proximal interphalangeal joint flexion contracture of the left fifth digit.

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BACKGROUND: 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 idiopathic arthritis. CACP syndrome is caused by mutations in the proteoglycan 4 (PRG4) gene. To date, only 36 pathogenic mutations have been reported in this gene, but none have been reported from Azerbaijan. CASE PRESENTATION: Herein, we report two siblings presented with chronic polyarthritis, had a prior diagnosis of juvenile idiopathic arthritis, but was subsequently diagnosed as CACP syndrome with novel mutation in the PRG4 gene. CONCLUSION: Our report expands the knowledge of PRG4 mutations, which will aid in CACP patient counseling.

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The aim of this study was to introduce a new progressive correction device and present treatment results in camptodactyly patients. Eight patients (11 fingers) were treated for camptodactyly by an external fixator between February 2019 and April 2020. Mean follow-up was 28.7 ± 3.3 months (range, 24-35 months). Operative times and treatment complications were recorded. Pre- and post-operative flexion contracture, total active range of motion (TAM) and esthetic satisfaction were evaluated at final follow-up. Esthetic satisfaction was rated by the patient on a 1-5 point scale. Seven patients were male, and 1 female. Mean age was 21.6 ± 8.5 years (range, 15-42 years). Mean surgery time was 14.9 ± 2.4 min (range, 10-18 min). Mean preoperative flexion contracture was 85.9 ± 7° (range, 75-95°), and mean postoperative flexion contracture was 4 ± 3° (range, 0-10°). Transient proximal interphalangeal joint swelling was seen in 1 case and pin tract infection in 1. TAM was perfect in 5 fingers and good in 6. Patients were either very satisfied (n = 5) or satisfied (n = 3) with the esthetic appearance of each operated finger. Camptodactyly could be managed with a hinged external fixator simply and effectively with gratifying results in selected patients. LEVEL OF EVIDENCE: Level IV, case series.

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The development of craniofacial structures is complex and involves multiple cellular and molecular interactions. We report a case of congenital camptodactyly in a female who subsequently developed chronic tinnitus and temporomandibular joint dysfunction. This report describes the clinicoradiographic features and surgical management of the facial skeletal manifestations, along with postoperative rehabilitation. Furthermore, a concise review of similar literature raises the question of whether this complex of manifestations represents a new entity or a minimal manifestation of a previously characterized syndrome. As such, a possible developmental association between camptodactyly and temporomandibular joint dysfunction is suggested.

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Camptodactyly is a genetic disorder that causes fixed flexion deformity of one or more fingers of single or both hands. It is very rare and the occurrence is very low amongst the children. It is linked to a handful of congenital connective tissue syndromes. It is passed onto generations with reduced expressivity. However, its association with benign joint hypermobility syndrome is rarely known. Joint hypermobility syndrome is a condition where there is extreme joint flexibility and it is related to a set of articular and extra-articular sequelae. We herein report a case of camptodactyly with benign joint hypermobility syndrome in a patient presenting with fixed flexion deformity of the fingers, joint hyperextensibility, and striae.

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BACKGROUND: Juvenile idiopathic arthritis is the most common chronic rheumatic disease of childhood. The term JIA encompasses a heterogenous group of diseases. The variability in phenotype of patients affected by the disease means it is not uncommon for mimics of JIA to be misdiagnosed. CASE PRESENTATION: We present four cases who were treated in single tertiary rheumatology centre for JIA who were subsequently diagnosed with a rare monogenic disease. All four patients shared the unifying features of presenting in early childhood and subsequently suffered with refractory disease, not amenable to usual standards of treatment. Multicentric Carpotarsal Osteolysis Syndrome and Camptodactyly-arthropathy-coxa vara-pericarditis syndrome are non-inflammatory conditions and patients typically present with arthropathy, normal inflammatory markers and atypical radiological features. Blau syndrome is an autosomal dominant condition and patients will typically have symmetrical joint involvement with a strong family history of arthritis, signifying the genetic aetiology. CONCLUSIONS: We share our learning from these cases to add to the growing portfolio of JIA mimics and to highlight when to consider an alternative diagnosis. In cases of refractory disease and diagnostic uncertainty further imaging and genetic testing can play a crucial role in establishing the aetiology. In all of these cases the correct diagnosis was made due to careful, longitudinal clinical phenotyping and a close working relationship between rheumatology, radiology and clinical genetics; highlighting the importance of the multidisciplinary team in managing complex patients.

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Background: Clinical manifestations of camptodactyly are varied and no official consensus on the etiopathogenesis or best treatment is available. Conservative treatment is generally preferred and, in refractory patients, surgery might be considered. However, reported results of surgery are often unsatisfactory and it is difficult to compare outcomes as different classification systems are adopted. We reported the outcomes of surgical treatment of camptodactyly with the Malek cutaneous approach and stepwise release, assessed using the Siegert classification. Methods: A retrospective analysis of paediatric patients (≥1 and ≤18 years) with congenital camptodactyly refractory to conservative management (flexion contracture >30°), treated with Malek cutaneous approach and stepwise release surgery between June 2009 and June 2019 with at least 1 year of follow-up was performed. Pre- and post-operative clinical and radiographic assessments were evaluated for degrees of flexion contractures and early (<30 days) or late (>30 days) complications were recorded. Results: A total of 59 patients underwent surgery, of whom 38 (64%), including 42 fingers, were enrolled; mean patient age was 8 years (range 1-18). Post-operative mean flexion contracture was significantly improved (p > 0.001) and no infections were recorded. Mean follow-up was 6 years (range 1-10) and proximal interphalangeal joint extension deficits were rated according to Siegert classification as excellent (69%), good (12%), or fair (9.5%) and poor (9.5%). Conclusions: The Malek cutaneous approach and stepwise release of the retracting soft tissues allow prompt evaluation of the anatomical structures involved in the deformity and seem to be an effective surgical correction in the long term. Level of Evidence: Level IV (Therapeutic).

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Camptodactyly and clinodactyly are most commonly considered just cosmetic defects, but they can pose a major diagnostic and therapeutic challenge, mainly because of their apparently similar clinical presentation. For years, experts have been arguing over definitions, descriptions, and therapeutic approaches to these deformities, with some favoring surgical approach, some advocating conservative treatment, while others are prone to use a combination of the aforementioned approaches. This article provides an overview of the current literature on two different entities, with emphasis on differences in clinical presentation and treatment modalities. This may improve the understanding and recognition of these deformities in children, and help the attending physician select the most appropriate therapy for the individual patient.

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INTRODUCTION: It is a long-established teaching to avoid operating on camptodactyly unless there is a failure of non-operative treatment, such as serial splinting and hand therapy, and there is an established proximal interphalangeal joint (PIPJ) contracture of 60°; a recent systematic review reflects this continuing approach, with some papers advocating intervention with a lesser degree of contracture. AIM: To evaluate whether early flexor digitorum superficialis (FDS) release, followed by gentle passive manipulation (GPM), will correct severe 'congenital' camptodactyly, if undertaken at an earlier age than usual, thus avoiding the more aggressive surgical approach required in the established adolescent cases. METHOD: The surgical technique and treatment algorithm are described. A multi-centre case series is presented; data analysis included patient demographics, syndromic association, side/digit affected, ages at onset, progression, referral and at surgery, operation details, pre- and post-operative contracture and range of motion. RESULTS: There were 12 patients (3 males, 9 females) who underwent 15 operations for 24 involved digits. Patients had surgery by 3 months (median) post-referral, and there was a significant improvement in median (range) PIPJ contracture (90°(30°-90°) vs. 0°(0°-45°); p<0.001) and range of motion (0°(0°-60°) vs. 90°(50°-95°); p<0.001), at a median post-operative follow-up of 2.5 years. According to the Siegert grade, 87.5% of digits had excellent/good post-operative outcomes and 12.5% had fair outcomes. CONCLUSION: This paper specifically addresses the problem of aggressive and progressive camptodactyly in the young child. By this, we mean patients who have failed non-operative treatment and have PIPJ contractures ≥60°, and those whose contractures have increased by 30° within 1 year. All cases responded to early FDS release and GPM, hence correcting the PIPJ contracture. However, cases with multiple digital involvement, whether syndromic or not, and failed previous surgery or the older child, required additional procedures to restore a dynamic dorsal apparatus and active extension.

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Congenital contractural arachnodactyly (CCA) is caused by pathogenic FBN2 variants; however, the contributions of copy number variations (CNVs) to CCA are still unknown. Here, we report on a familial case of CCA, in which a novel multiexon deletion of exons 35-39 in FBN2 was identified after simple CNV prediction.

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Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome, caused by biallelic pathogenic mutations in the PRG4 gene, is characterized by early-onset camptodactyly, noninflammatory arthropathy, coxa vara deformity, and rarely, pericardial effusion. Herein, we report 3 patients with CACP syndrome from 2 unrelated families. All patients are female, born to consanguineous parents, and had camptodactyly since the first years of their lives. Two patients had a prior diagnosis of juvenile idiopathic arthritis. Hip changes were present in 2 patients, and 2 of 3 patients had undergone surgery for camptodactyly. Routine echocardiographic evaluations were normal during the 2-year follow-up. This paper represents the third study including CACP patients from Turkey. Clinically, all 3 patients resembled juvenile idiopathic arthritis cases and received unnecessary medication. There is also an ongoing need for improving awareness of CACP and an effective treatment focusing on the lubrication of the joint space in CACP patients.

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The most common deletion syndrome is 22q11.2 and it effects an estimated 1 in 3000 live births. Major features of this multisystem condition include congenital abnormalities, developmental delay, learning difficulties, immunodeficiency, endocrine anomalies and an array of psychiatric disorders. However, variability in phenotype and severity may cause the diagnosis to be overlooked. Early clinical recognition and treatment of DiGeorge syndrome has been shown to increase early life survival, decrease complications and enhance overall quality of life. Skeletal anomalies are infrequently described in 22q11.2 but a subset of patients exhibit upper and lower limb deformities. We present the case of a 5 year-old girl with bilateral fifth digit camptodactyly caused by a fibrous band, and the surgical management of this condition. The current report adds to the body of evidence that camptodactyly is a rare clinical feature of 22q11.2 deletion syndrome, and may serve as a diagnostic aid in these patients.

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We describe two unrelated Indian boys with Mental retardation with language impairment with or without autistic features (OMIM#613670). Novel pathogenic variants c. 593_599 delins AGAAG and c.1556T>C in FOXP1 were identified in Patients 1 and 2, respectively by exome sequencing. The patients shared the cardinal features of significant language impairment, prominent forehead, downslanted palpebral fissures, frontal upsweep of hair, and behavioral abnormalities. Camptodactyly (with pterygia in Patient 2) was an additional feature noted in our study. The phenotype was consistent with previous reports of patients with monogenic defects in FOXP1. The facial features overlap with Sotos syndrome. However, presence of frontal upsweep of hair is a good pointer toward FOXP1 related syndromic intellectual disability.

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