Rare bone diseases can present to spinal surgeons with issues comprising instability, vertebral fracture, neurological compression and spinal deformity, and any or all can affect all areas of the spine. The management of these spinal issues can be challenging in their own right and is added to by the nuances of the rare bone condition itself. This article covers the specifics of the issues faced, through both an anatomical and pathological lens, to give the basics of the management of the spine aspects of these rare bone diseases to those that will see these conditions uncommonly, or need to know about them for examination purposes. Whilst not intending to cover all possible scenarios, this article provides the basics of knowledge and can be built on if required for those who work with this patient group.
Achondroplasia is the most common skeletal dysplasia, arising from a gain-of-function variant in FGFR3 that disrupts endochondral ossification and results in a highly conserved pattern of skeletal dysmorphology. Although short stature is the most visible feature, the clinical burden extends well beyond growth: a developmentally narrow craniospinal canal, altered vertebral morphology and abnormal limb alignment generate a substantial lifetime surgical burden that begins in infancy and continues into adulthood. This review covers the pathophysiology, diagnostic pathway and principal complications relevant to orthopaedic practice. Foramen magnum stenosis and sleep-disordered breathing require active surveillance from birth and must be formally assessed before any elective intervention. Spinal complications, including thoracolumbar kyphosis and lumbar stenosis, follow a broadly predictable natural history, while lower-limb malalignment and ligamentous laxity contribute to progressive functional limitation across the lifespan. Orthopaedic input in achondroplasia in children primarily focuses on restoration of the mechanical axis via guided growth or osteotomies but limb lengthening in upper and/or lower limbs can also be offered. The therapeutic landscape has shifted considerably with the introduction of disease-modifying pharmacotherapy. These agents are now part of routine care for many children with achondroplasia in some countries and have implications for surgical planning that orthopaedic teams need to be aware of. Safe, effective management of achondroplasia requires structured, anticipatory surveillance and close coordination within a specialist medical team throughout life.
Genetic developmental disorders of the skeleton are individually rare but together constitute an important area of orthopaedic practice. The multiple epiphyseal dysplasias represent a subgroup of these conditions in which endochondral ossification is disrupted by defects that are primarily in cartilage metabolism in the developing skeleton. The ends of the tubular bones (epiphyses) and articular cartilage are particularly affected; this is manifest variably as short stature (sometimes disproportionate), abnormal joint structure, angular deformities of the joints and long bones, and premature degenerative arthritis. The genes responsible for most of these conditions have been identified in the past 40 years but current medical treatments are still largely limited to providing symptomatic relief. In childhood, orthopaedic intervention is sometimes required to correct major structural abnormalities of the joints or for limb realignment. Premature osteoarthritis is a common consequence of many of these disorders and joint replacement surgery (particularly hips but also knees) is quite commonly required in early adult life for those with the more severe variants of these conditions. This review provides a framework for distinguishing the various forms of multiple epiphyseal dysplasia, their underlying causes, and the principles of medical and surgical treatment.
Rare bone disorders are just that, rare. Despite this fact, patients with these conditions are a relatively popular inclusion in orthopaedic clinical examinations. This paper aims to elucidate several of these conditions to improve the potential examination candidates' knowledge of their presentation, clinical examination findings, pathology and importantly, up to date principles of management of these conditions in the UK. This article will take the prospective candidate through the approach for a clinical examination, principles of management of skeletal dysplasias in UK practice, followed by more in depth discussion of multiple epiphyseal dysplasia, spondyloepiphyseal dysplasia congenita and tarda, achondroplasia, pseudoachondroplasia, Ollier's disease, multiple hereditary exostosis, osteopetrosis, hypophosphatasia, fibrous dysplasia, osteogenesis imperfecta, cleidocranial dysplasia, X-linked hypophosphataemia, Langerhan's cell hystiocytosis and chronic non-bacterial osteomyelitis/chronic recurrent multifocal osteomyelitis. This work includes clinical photographs and radiographs (published with permission) to illustrate some of the key clinical and radiological findings of these conditions.
Hip and knee arthroplasty is a procedure that presents unique challenges when performed in those with rare bone disease, including assessment of bone quality and strength, prosthesis type and shape, along with techniques of fixation of the implants and subsequent stability. Complications are more common and may be more challenging to resolve. This review highlights the specific issues facing the surgeon when performing lower limb joint replacement in this patient group.
Chronic non-bacterial osteitis (CNO) is a rare autoinflammatory bone disease encompassing a spectrum of conditions including, chronic recurrent multifocal osteomyelitis (CRMO), and SAPHO syndrome. The hallmark is sterile osteitis, driven by innate immune dysregulation rather than infection. Although first described in 1972, CNO remains significantly under-recognized with consequent diagnostic delays. The condition most frequently involves the anterior chest wall and clavicle, but any bone may be affected; multifocal and bilateral symmetric involvement is characteristic. Orthopaedic surgeons may encounter these patients during workup for suspected infection or malignancy. Delayed diagnosis can lead to prolonged antimicrobial treatment, repeated biopsies and missed therapeutic windows. This article summarises the current understanding of CNO pathophysiology, describes the clinical and radiological features across paediatric and adult populations, outlines a structured diagnostic approach, and presents a stepwise management algorithm. Specific orthopaedic considerations – including the indications for biopsy, the role of whole-body MRI, indication for surgical intervention, and management of complications such as vertebral collapse and growth disturbance – are addressed. Two illustrative cases are presented. Early recognition and prompt referral to a specialist multidisciplinary team underpins optimal outcomes.
Both hereditary multiple exostosis (HME) and Ollier's disease (OD) present with focal bony expansions. However, they have distinct aetiologies and prognosis. HME causes multiple osteochondromas that are exophytic growths outside of the bone, typically around the metaphysis and diaphysis and affecting particularly the fibular and ulna more than the tibia and radius. In contrast, OD causes multiple enchondromas that are expansile bony masses in the diaphysis of the limbs and hand bones. Both conditions tend to spare the skull, are asymmetric and can lead to significant deformity. OD can lead to shortened deformed bones with gross local swelling. HME can cause a Madelung deformity of the wrist and short stature. Both present during childhood. The major difference is in the risk of malignancy. The risk of skeletal malignancy is much higher in OD, and patients with OD also have increased risk of other cancers such as of the ovary and liver. In the absence of targeted medical therapies, surgical treatment is focused on removing lesions that, if left, have a high potential for functional loss along with robust surveillance for both local complications and malignant transformation.
Tumour-induced osteomalacia (TIO) is a rare, acquired paraneoplastic syndrome resulting from the autonomous secretion of the hormone fibroblast growth factor 23 (FGF23), typically from small, indolent phosphaturic-inducing mesenchymal tumours (PMTs). This hormonal excess leads to renal phosphate wasting and defective skeletal mineralization (osteomalacia). The clinical phenotype depends on skeletal maturity, manifesting as tumour-associated hypophosphataemic rickets in children and progressive osteomalacia and myopathy in adults. Due to the insidious clinical presentation, the rarity of the condition, a requirement for both complex biochemical interpretation and advanced functional imaging, diagnostic delay is well-recognized, often spanning years and causing considerable general, and sometimes irreversible, skeletal morbidity. This brief review summarizes current knowledge and advances in the management of TIO. We provide a diagnostic framework to guide clinicians, including orthopaedic specialists, from initial biochemical suspicion to tumour localization, and outline treatment strategies including surgical resection and monoclonal antibody therapy.
Osteogenesis imperfecta (OI) is a rare inherited connective tissue disorder and the most common cause of heritable bone fragility. Approximately 85–90% of cases result from pathogenic variants in COL1A1 and COL1A2, typically following an autosomal dominant pattern of inheritance. The classification system proposed by Sillence et al. in 1979 originally described four clinical types and this has expanded to include additional subtypes with distinct phenotypic features and genetically heterogeneous causes, including autosomal recessive and X-linked recessive forms. The clinical spectrum of OI is highly variable, ranging from severe forms with multiple in utero fractures and perinatal lethality to milder presentations characterized by near normal stature and low fracture incidence. Early and accurate diagnosis is essential, particularly in the antenatal and neonatal periods, both for prognostic purposes and to differentiate OI from non-accidental injury. Management of OI is multidisciplinary, involving coordinated care from physiotherapists, occupational therapists, orthopaedic surgeons and metabolic bone specialists. Pharmacological treatment, particularly with bisphosphonates, has significantly improved outcomes by increasing bone mineral density, reducing fracture risk and enhancing quality of life in children. In contrast, there appears to be little role for bisphosphonates and dual energy X-ray absorptiometry scanning for adults with OI. This article provides an overview of bone biology, outlines the clinical features, classification and genetic variants of OI and highlights key principles in assessment and management.
X-linked hypophosphataemic (XLH) rickets is a rare bone disorder caused by an X-linked dominant variant in the phosphate regulating endopeptidase homolog called PHEX, which leads to in an increase fibroblast growth factor-23 (FGF23), and, in turn, excessive renal phosphate wasting. While XLH was primarily thought to be a disease of childhood with short stature, bone pain and fractures, it is becoming increasingly apparent that XLH continues to cause progressive skeletal and non-skeletal complications in adulthood. Adults can present with multiple potential causes for skeletal pain and dysfunction. Careful history and examination are needed to identity the likely culprit pathologies and guide further imaging and treatment, in particular spinal stenosis and Arnold Chiari malformations need to be ruled out. In adults, a low threshold is needed for imaging to exclude pseudofractures, especially of the femur. Management has been transformed by targeted antibody therapy to remove excess FGF23 using burosumab. The effect of burosumab to improve musculoskeletal health highlights the need for close collaboration between different disciplines for the optimal care of adults with XLH.
Fibrous dysplasia/McCune Albright syndrome (FD/MAS) is a rare bone disorder caused by a post-fertilization mutation of the GNAS gene that leads to overactivity of that gene in a range of tissues including skeletal, endocrine and skin. Diagnosis is principally clinical and radiological confirmation. The variable multisystem involvement with different complications requires a holistic approach to assessment and management across the lifecourse including screening for potential complications due to endocrine hyperfunction. At present, there is no effective targeted therapy. From an orthopaedic perspective, fractures, deformity and bone pain are common and require specialized approaches from both medical and surgical perspectives. For incomplete fractures, radiographs and CT are preferred over MRI. For bone pain, while there is no supportive clinical trial evidence, a trial of intravenous bisphosphonates are recommended. Key to patient care is involvement with the UK national Fibrous Dysplasia Support Society to provide peer to peer support.
Surgical antibiotic prophylaxis (SAP) is a critical component of infection prevention in orthopaedic surgery, where surgical site infections (SSIs) and periprosthetic joint infections are associated with significant mortality, functional impairment and healthcare cost. Although the incidence of orthopaedic SSIs is relatively low, the presence of implanted material and the propensity of biofilm formation result in disproportionate clinical consequences when infection occurs. Evidence suggests that a substantial proportion of these infections are preventable through timely, targeted and evidence-based SAP. This article reviews the principles underpinning effective SAP in orthopaedic practice, including antimicrobial selection, timing, dosing and duration within elective surgery, trauma and contaminated procedures. Common pathogens, patient-specific risk factors and the role of pharmacokinetics are discussed, alongside prescribing errors such as unnecessary use of vancomycin and prolonged post-operative prophylaxis. The consequences of inappropriate antibiotic use, including antimicrobial resistance, drug-related toxicity and Clostridioides difficile infection, are examined in the context of antimicrobial stewardship. In addition, the article outlines key considerations in the diagnosis and management of established orthopaedic infection, emphasizing the importance of microbiological sampling, multidisciplinary collaboration, and rational antimicrobial therapy. Optimizing SAP through guideline adherence and stewardship is essential to safeguarding patient outcomes and preserving antibiotic effectiveness for the future.
Ballistic trauma presents challenges that differ markedly from other injury patterns, particularly in civilian practice, where such cases form only a small proportion of most departments’ workload. This review provides a region-based overview of common ballistic injuries and the key considerations that guide their assessment and management. While initial resuscitation is anchored in the Advanced Trauma Life Support (ATLS) framework, the article focuses on the decisions that arise once the patient leaves the resuscitation bay, where clinicians must interpret wound behaviour, anticipate evolving tissue injury, and plan appropriate operative or non-operative strategies. Current evidence on antibiotic use, wound management and the increasing role of selective non-operative approaches is summarized. This review also addresses common misconceptions in ballistic care and highlights how the growing prevalence of high energy weapons in civilian settings has altered expected wound patterns and management priorities. The aim is to provide a clear, practical guide that strengthens clinical reasoning and supports safe, contemporary management of civilian ballistic trauma.
Peripheral nerve injuries (PNIs) represent a significant clinical challenge, frequently affecting otherwise healthy individuals and leading to substantial motor, sensory and autonomic dysfunction. This article provides a comprehensive review of the fundamental aspects of PNIs, including the underlying anatomy, common aetiologies, and classifications of PNI using the Seddon and Sunderland systems. The pathophysiology of nerve injury is explored in detail describing the critical processes of Wallerian degeneration and the subsequent regenerative cascade, which are essential for determining the timing and approach to intervention. Clinical evaluation (combining detailed history, physical examination, electrodiagnostic studies, and advanced imaging such as MRI scans) is crucial for accurate localization and characterization of the injury. The current clinical management strategies, ranging from non-operative rehabilitation for low-grade injuries to surgical interventions for more severe injuries are also discussed in detail. Finally, we discuss emerging therapies designed to overcome the limitations of traditional repair. These therapies hold significant promise for enhancing axonal regeneration and functional recovery, though rigorous clinical trials are necessary to establish their efficacy and facilitate routine clinical adoption.
Sarcopenia is a progressive skeletal muscle disorder characterized by age-related loss of muscle mass, strength and function. It is independently associated with adverse clinical outcomes, including fractures, falls, disability and increased mortality. It represents a potentially modifiable surgical risk factor within the broader umbrella of frailty. Diagnosis is based on assessment of muscle strength and function, with or without quantitative measures of muscle mass. Current management strategies focus on resistance exercise and nutritional optimization, predominantly through increased protein intake and targeted amino acid supplementation. The relevance of sarcopenia to orthopaedic practice is increasingly recognized, particularly in patients sustaining fragility fractures and those undergoing elective joint replacement surgery. Orthopaedic surgeons are uniquely positioned to identify sarcopenia through functional assessment and to implement early interventions. Incorporating pre-operative screening and structured prehabilitation programmes may optimize functional reserve and improve post-operative outcomes in sarcopenic patients.
The knee is a multifaceted joint complex that must sustain loading equivalent to multiple times an individual's bodyweight while maintaining stability and permitting the large range of motion required for daily activity. Normal knee function depends on the integrated interactions between the bones' articular geometry and the surrounding soft tissues in its tibiofemoral and patellofemoral joints. This article summarizes key principles of knee biomechanics, with an emphasis on functional anatomy, tibiofemoral and patellofemoral kinematics, soft-tissue contributions to stability, and load distribution. These principles highlight the coupled motions, passive and active restraints and joint loading that occur during knee flexion and extension. Their clinical relevance is illustrated through common knee pathologies that can be described as disruptions to these biomechanical functions. A clear understanding of knee biomechanics provides an important framework for interpreting common disorders and for informing their clinical management.
Stroke (cerebrovascular accident) is an extremely common disease with an estimated incidence of 100,000 per year in the UK. Up to 30% of patients will develop spasticity following stroke, the sequelae of which can have a significant impact on patients' abilities to carry out activities of daily living (ADLs), leading to a significant reduction in function and independence levels. Abnormal limb posture as a consequence of an upper motor neurone lesion affects patients' ability to ambulate and carry out simple hygiene; increases the risk of pressure sores, and can have a lasting impact on patients’ self-perception and image. In the upper limb there are multiple patterns of deformity whereas in the lower limb the predominant pattern is an equinovarus position of the foot and ankle. This article summarizes the principles of orthopaedic assessment and treatment for both upper and lower limb spasticity in stroke patients with a review of contemporary orthopaedic literature. Many of the principles described are also relevant to spasticity secondary to other upper motor neurone pathologies.
Over the last 25 years, rheumatology has seen a huge expansion in agents available to treat inflammatory joint diseases, including rheumatoid arthritis, psoriatic arthritis and axial spondyloarthritis, as well as osteoarthritis and autoimmune rheumatic diseases such as systemic lupus erythematosus. These therapeutic advances have evolved through our deeper understanding of the pathogenesis of immune pathways and the interplay of omics, as well as realization of the heterogeneity within single phenotypes. We now have the real prospect of being able to offer patients remission, and in some, drug-free remission. This article discusses these advances and the challenges, in terms of disease interception, diagnosis and imaging, novel therapeutic approaches, the role of precision medicine, the influence of the menopause in rheumatic symptoms, managing comorbidities, as well as peri-operative issues for patients who require disease-modifying anti-rheumatic medications.
The diagnosis and management of bone and joint infection, both in the context of the native skeleton and in the presence of prostheses, is one of the greatest tasks facing modern orthopaedic surgeons and patients. Anatomical, physiological, microbiological and mechanical factors render these infections especially complex. Successful eradication of infection with concomitant maintenance of a mechanically functional skeleton poses a unique challenge requiring complex surgical decision making and cohesive multidisciplinary collaboration. These infections, which cause significant patient morbidity, mortality, and elevated healthcare costs, are on the rise and are becoming an integral part of the orthopaedic workload. Although bone and joint infection is a rapidly evolving field, consensus has not been achieved on many clinical aspects. This review summarizes the presentation, diagnosis and current management strategies for native joint septic arthritis, osteomyelitis, spondylodiscitis, fracture-related infection and prosthetic joint infection in the adult patient population.
Orthobiologics are biological materials used to augment the body's intrinsic repair mechanisms. The use of orthobiologics in trauma and elective orthopaedics continues to expand with an increasing understanding of cellular signalling pathways and biomaterials science. Applications now span fracture and non-union management, spinal fusion, cartilage restoration, and tendon repair. This review summarizes current evidence, biological principles, regulatory and economic considerations within the UK, and highlights future directions. Orthobiologics act by providing cells, signalling molecules and scaffolds to enhance osteogenesis, chondrogenesis and angiogenesis. Although several agents, most notably bone morphogenetic proteins (BMPs) and platelet-rich plasma (PRP), have achieved limited clinical acceptance, widespread use remains constrained by variable efficacy, cost and regulatory oversight. A structured understanding of biological mechanisms and appropriate indications is essential for orthopaedic surgeons engaged in trauma or elective practice.
