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Case Report | Volume 11 Issue 10 (October, 2025) | Pages 95 - 101
Congenital and Developmental Orthopedic Disorders in Children: Advances in Detection, Management, and Future Directions
1
12th Grade student in the IB Diploma Programme The Hill Spring International School Mumbai, Maharashtra
Under a Creative Commons license
Open Access
Received
Aug. 26, 2025
Revised
Sept. 9, 2025
Accepted
Sept. 22, 2025
Published
Oct. 4, 2025
Abstract
Background: Congenital and developmental orthopedic disorders are major causes of childhood morbidity and result in long-term disability if not diagnosed and treated in early stages. Developmental dysplasia of the hip (DDH), clubfoot, Blount's disease, Perthes disease, and slipped capital femoral epiphysis (SCFE) are the most common entities within this category. Progresses in screening programs, imaging techniques, and conservative treatments like the Ponseti technique have transformed early management. Surgical interventions continue to play a crucial role in complicated or late-presenting conditions, whereas molecular genetics is redefining our knowledge of skeletal dysplasias and providing avenues for precision medicine. The disparities in access to early intervention continue to be an issue, especially in low-resource environments. This review integrates the evidence for epidemiology, detection, management, outcomes, and future directions regarding congenital and developmental orthopedic disorders in children.
Keywords
INTRODUCTION
Congenital and developmental orthopedic diseases account for a significant load on the health of children globally. Developmental dysplasia of the hip (DDH) in 1–20 per 1,000 live births varies according to ethnicity and screening methods [1]. Clubfoot occurs in about 1–2 per 1,000 newborn infants and, if not treated, results in severe disability [2]. Diseases like Blount's disease, Perthes disease, and slipped capital femoral epiphysis (SCFE) happen less commonly but are highly risky for long-term morbidity and early osteoarthritis [3,4]. The effect of these conditions goes beyond musculoskeletal deformity. Children are limited by mobility, diminished physical activity participation, and decreased quality of life. Families have psychosocial distress, economic burdens, and long-term caregiving needs [5]. Progress with ultrasound-based screening, standardized conservative regimens like the Ponseti method, and emerging surgical strategies have enhanced results [1,2,6]. Furthermore, knowledge from molecular genetics and next-generation sequencing is revolutionizing diagnostic and therapeutic methods for skeletal dysplasias [7,8]. Thus, it is relevant to offer a detailed synthesis of evidence on congenital and developmental orthopedic disorders in children, with an emphasis on detection, management, outcomes, and new directions in pediatric orthopedics. 2. Developmental Dysplasia of the Hip (DDH) Developmental dysplasia of the hip represents one of the most frequent pediatric orthopedic conditions and involves a spectrum from mild acetabular dysplasia to frank dislocation. The etiology is multifactorial, and documented risk factors include breech presentation, family history, female gender, and swaddling habits [9]. Early detection is essential in order not to progress towards irreversible structural abnormalities and premature degenerative joint disease. Ultrasound-based screening has revolutionized early detection. Graf's method and dynamic ultrasound techniques enable non-invasive hip morphology assessment in the first six months of life [1]. Comparison studies between selective screening of high-risk infants and universal ultrasound programs indicate that both are effective, with universal screening potentially detecting cases missed in its absence at the expense of increased resource use [1,9]. A recent meta-analysis had a pooled prevalence of DDH in infants of 0.7%, again emphasizing the necessity for systematic detection protocols [10]. Treatment varies according to age of diagnosis and dysplastic severity. The Pavlik harness is still the first-line treatment for infants diagnosed less than six months, with success rates above 90% when used early being reported [11]. But, intervention begun after six months is less successful and more likely to develop avascular necrosis of the femoral head [12]. In late-presenting cases, open or closed reduction with or without pelvic osteotomies can be necessary [12]. Long-term follow-up studies illustrate that there is residual dysplasia in some children, and patients are still at higher risk for early osteoarthritis and total hip arthroplasty in adulthood [13]. There has also been recent research looking at timing and type of orthotic intervention. Research has established that starting orthosis in the first month of life is associated with better outcomes, with delayed initiation being associated with increased failure [14]. There are still controversies about optimum duration of harness wear and routine radiographic surveillance. As a whole, DDH illustrates the value of early screening and prompt intervention. While conservatively managed, most cases have excellent prognosis, yet late diagnosis remains a significant challenge, emphasizing the value of enhanced community-based awareness and screening strategies. 3. Clubfoot Clubfoot, or congenital talipes equinovarus, is among the most prevalent congenital orthopedic deformities, affecting approximately 1–2 per 1,000 live births worldwide [2]. The condition can be classified as idiopathic, representing the majority of cases, or syndromic, associated with neuromuscular or genetic conditions [15]. Pathophysiology is multifactorial, with contributions from abnormal intrauterine positioning, genetic predisposition, and connective tissue abnormalities. Figure 1 shows an illustration on club foot.
CASE DESCRIPTION
Over the last two decades, management of idiopathic clubfoot has undergone a paradigm shift. The Ponseti method—sequential manipulation and casting followed by percutaneous Achilles tenotomy and prolonged bracing—has become the gold standard worldwide [2,6,16]. Systematic reviews and long-term outcome studies consistently demonstrate superior functional results, fewer complications, and lower rates of stiffness compared with extensive surgical release [2,16]. Nevertheless, relapse remains a challenge, particularly when bracing compliance is suboptimal [17]. Comparisons between Ponseti treatment and surgical interventions underscore the advantages of conservative approaches. Longitudinal follow-up of patients treated surgically with posteromedial release reveals higher rates of pain, stiffness, and arthritis in adulthood, whereas Ponseti-treated patients maintain greater mobility and long-term satisfaction [6,16,17]. In resource-limited settings, however, barriers such as limited access to trained personnel, poor brace availability, and socioeconomic constraints contribute to variable outcomes [18]. Future perspectives emphasize improving adherence to bracing protocols through caregiver education and community-based follow-up models. Accelerated Ponseti protocols, involving more frequent cast changes, have also shown promise in reducing treatment duration while maintaining comparable correction rates [19]. Importantly, public health initiatives integrating clubfoot care into community programs have demonstrated effectiveness in improving access and reducing long-term disability in underserved regions [18,19]. Thus, the success of clubfoot management hinges not only on medical techniques but also on health system support, family engagement, and long-term surveillance. 4. Blount’s Disease, Perthes Disease, and SCFE Blount’s Disease Blount’s disease, or tibia vara, is characterized by abnormal growth of the medial proximal tibial physis, leading to progressive varus deformity. Epidemiologic studies demonstrate a strong association with obesity and early walking age [20]. The condition may present as infantile or adolescent forms, with earlier onset carrying a higher risk of progression. Guided growth techniques using hemiepiphysiodesis can correct deformities in younger children, while advanced cases often require osteotomies [20]. Delayed intervention is associated with increased risk of recurrence and mechanical axis deviation. Perthes Disease Legg–Calvé–Perthes disease is an idiopathic avascular necrosis of the femoral head, typically presenting between the ages of 4 and 10 years. The natural history is highly variable, with outcomes influenced by age at onset, extent of femoral head involvement, and hip range of motion [3,5]. Prognostic indicators such as the lateral pillar classification assist in guiding management decisions. Evidence from long-term follow-up shows that nonoperative treatment, including activity modification and physical therapy, may yield satisfactory outcomes in selected patients, but surgical containment procedures are indicated in children older than six years or those with extensive involvement [3,5]. Despite treatment, up to 20% of patients progress to early hip osteoarthritis in adulthood [5]. Slipped Capital Femoral Epiphysis (SCFE) SCFE represents the most common adolescent hip disorder, strongly associated with obesity and endocrinopathies such as hypothyroidism and growth hormone abnormalities [4]. The condition is classified into stable and unstable slips, with prognosis significantly worse in unstable cases. In situ fixation using a single cannulated screw remains the standard of care for stable SCFE, while unstable slips often require modified fixation techniques to minimize complications such as avascular necrosis [4]. Long-term follow-up studies demonstrate that despite early surgical intervention, patients with SCFE have an increased risk of femoroacetabular impingement, early osteoarthritis, and eventual hip arthroplasty [4]. Shared Challenges Across Blount’s disease, Perthes disease, and SCFE, delayed diagnosis remains a common challenge. These disorders often present with subtle gait changes or knee/hip pain, leading to diagnostic delays. Furthermore, the psychosocial impact on children—ranging from limitations in physical activities to reduced peer interaction—adds to the long-term burden on families [20]. 6. Cross-Cutting Themes Role of Imaging and Biomarkers Across congenital and developmental orthopedic disorders, imaging remains central to diagnosis, treatment planning, and long-term surveillance. Ultrasound is pivotal in DDH screening, while radiographs and MRI are indispensable for conditions such as Perthes disease and SCFE [1,3,4]. Advances in imaging protocols, including low-dose CT and three-dimensional MRI, enhance visualization of complex deformities with reduced radiation exposure [25]. Biomarkers, though still under investigation, may in the future assist in monitoring disease progression, particularly in avascular necrosis and skeletal dysplasias [25]. Psychosocial and Functional Impact The psychosocial burden of these conditions is substantial. Children frequently experience reduced self-esteem, limited participation in sports, and social isolation due to visible deformity or mobility restrictions [5]. Parents and caregivers often face significant stress, highlighting the need for integrated psychological support. A systematic review of quality-of-life outcomes in pediatric musculoskeletal disorders emphasized the long-term psychosocial sequelae, even when surgical correction achieves good functional alignment [26]. Rehabilitation and Multidisciplinary Care Rehabilitation, including physiotherapy, orthotic support, and occupational therapy, is essential for optimizing outcomes across all conditions. For instance, after Ponseti casting for clubfoot or surgery for Perthes disease, structured rehabilitation enhances joint mobility and gait outcomes [16,27]. A multidisciplinary approach—engaging orthopedic surgeons, geneticists, physiotherapists, psychologists, and social workers—is increasingly recognized as a cornerstone of care, particularly for complex skeletal dysplasias [7,21]. Health Disparities Children in low-resource settings face disproportionate challenges in early detection and treatment. Limited access to ultrasound screening delays DDH diagnosis, while scarcity of trained providers hinders widespread application of Ponseti treatment for clubfoot [18]. Studies from sub-Saharan Africa and South Asia show that community-based programs improve treatment adherence and functional outcomes by reducing barriers to access [18,19,28]. Bridging these disparities requires scaling low-cost, community-integrated care models and expanding training of local health workers [28]. 7. Future Directions & Research Gaps Long-Term Outcome Registries A major limitation in pediatric orthopedics is the lack of large-scale, long-term registries capturing outcomes across diverse congenital and developmental disorders. Although several national databases track surgical outcomes, they often fail to provide sufficient follow-up into adulthood [29]. Establishing multinational, condition-specific registries would allow standardized comparisons of treatment modalities and facilitate evidence-based guidelines. Artificial Intelligence in Early Diagnosis Artificial intelligence (AI) and machine learning are increasingly explored for pediatric musculoskeletal imaging. AI-assisted ultrasound interpretation for DDH has demonstrated promising accuracy, potentially reducing inter-observer variability and supporting universal screening programs [30]. Similar approaches in radiographic evaluation of SCFE and Perthes disease are under development, though clinical validation remains limited [30]. Genetic Therapies and Biologics Emerging therapeutic innovations hold promise for skeletal dysplasias. Targeted molecular agents such as vosoritide for achondroplasia have already shown efficacy in improving growth velocity [24]. Gene therapy strategies are being explored to correct specific pathogenic mutations, with preclinical data suggesting feasibility [31]. Biologic treatments aimed at modifying growth plate signaling pathways represent another avenue for translational research [31]. Community-Based Screening and Interventions In low-resource settings, community-based approaches remain critical. Integration of DDH and clubfoot screening into existing maternal and child health programs has improved early detection and treatment adherence [18,19]. Training non-specialist health workers to deliver basic interventions under specialist supervision may bridge gaps in access [28,32]. Research evaluating cost-effectiveness and scalability of such programs is urgently needed [32].
RESULTS
The integration of molecular genetics into clinical practice has redefined the approach to skeletal dysplasias, allowing precise diagnosis, improved counseling, and emerging opportunities for targeted therapies. Cross-cutting themes—including the psychosocial burden of disability, the central role of rehabilitation, and the persistence of health disparities—underscore the need for multidisciplinary and equitable care models. Looking ahead, innovations in artificial intelligence, genetic therapies, and community-based programs hold promise to further improve outcomes. However, long-term registries and collaborative research networks are essential to strengthen the evidence base and guide practice globally. In summary, optimizing outcomes for children with congenital and developmental orthopedic disorders requires a combination of early detection, tailored interventions, multidisciplinary collaboration, and commitment to innovation and equity.
CONCLUSION
Congenital and developmental orthopedic disorders in children, including developmental dysplasia of the hip, clubfoot, Blount’s disease, Perthes disease, and slipped capital femoral epiphysis, continue to pose significant challenges to pediatric musculoskeletal health. Early detection through ultrasound and clinical screening has transformed the outlook for DDH, while the Ponseti method has revolutionized clubfoot care, reducing reliance on extensive surgery. For complex disorders such as Perthes disease and SCFE, timely recognition and individualized intervention remain critical to preserving hip function and preventing early osteoarthritis. Figure 2 shows the mirroring process.
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