Knowledge Hub

Conditions

A patient guide to the spinal conditions Mr Madi treats most often — written to help you understand your diagnosis before your consultation.

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Syndromes Associated with Scoliosis & Spinal Disorders

13 entries

Understanding Your Spine

Understanding Your SpineA patient guide to the anatomy and structure of the spine — the bones, discs, joints, ligaments, muscles and nerves that let you move, bend and stay upright.Read more The Developing SpineHow the human spine is built from a thread of embryonic cells into a segmented column of bone and disc — and how growing understanding of that development has reshaped the treatment of childhood spinal conditions.Read more The Degenerative SpineHow the discs, facet joints, ligaments and bone of the spine change with age — the science of degeneration, the imaging revolution that revealed it, and how that understanding has shaped modern spine surgery.Read more Spinal StabilityWhat it means for the spine to be stable or unstable — the bones, discs, ligaments and muscles that keep the spine safely aligned under load.Read more The Biology of HealingHow the body heals injured spinal tissues — discs, ligaments, muscles and bone — and what helps or hinders that process.Read more The Biology of FusionHow two vertebrae knit together into a solid block of bone after a spinal fusion — the biology that underpins a successful operation.Read more

How Your Spine Works (Biomechanics)

Cervical Spine (Neck)How the neck moves and bears load — the most mobile region of the spine, built to support and steer the head.Read more Thoracic SpineHow the mid-back works — anchored to the rib cage for stability, with a limited but important range of motion.Read more Lumbar Spine (Lower Back)How the lower back carries the body's weight and takes most of the strain of bending, lifting and twisting.Read more Sacroiliac JointHow the sacroiliac joints transfer load from the spine into the pelvis and legs during walking and standing.Read more CoccyxHow the tailbone supports body weight in sitting and anchors the pelvic floor muscles and ligaments at the very base of the spine.Read more Spinopelvic InteractionHow the spine and pelvis work together as one balanced unit — the spinopelvic relationship that underpins modern spinal care.Read more The Whole SpineHow the spine works as a single integrated column — the cervical, thoracic, lumbar, sacral and coccygeal regions sharing load, motion and balance.Read more How the Spine Interacts with the Upper and Lower LimbsHow the spine connects with the shoulders, arms, hips and legs — the kinetic chain that links posture, gait and limb function.Read more

Leg Pain & Sciatica

Slipped Disc (Lumbar Disc Prolapse)A 'slipped disc' does not actually slip — it bulges or herniates. Most settle within weeks with movement and pain relief; only a small minority need surgery.Read more Foraminal and Extraforaminal ("Far-Out") StenosisNarrowing of the neural foramen, the bony tunnel through which a spinal nerve root leaves the spine. Compresses the exiting root and characteristically produces radicular pain worse with extension and standing and eased by flexion and sitting — the opposite postural pattern to the claudication of central stenosis.Read more Lateral Recess (Subarticular) StenosisNarrowing of the entrance zone of the lumbar canal — the lateral recess — where the traversing nerve root begins its journey towards the leg. Typically produces focal, often one-sided radicular leg pain that can still be brought on by standing and walking.Read more Facet Joint CystA fluid-filled cyst arising from a facet joint that can press on a nerve root.Read more Recurrent Lumbar Disc HerniationA fresh herniation of disc material at a previously operated level, occurring after a genuine pain-free interval since an earlier discectomy — distinct from residual herniation and from epidural scar tissue.Read more

Spondylolisthesis

Paediatric Spondylolisthesis and Spondylolysis (Younger Children)A pars defect or forward slip at the lower lumbar spine in a still-growing skeleton, where the chief concern described in the literature is growth-related progression around the pubertal spurt.Read more Adolescent Spondylolysis and Spondylolisthesis: The Athletic TeenagerIn the skeletally maturing athlete, activity-related low back pain is most often a stress lesion of the pars interarticularis — a bone bridge that, when caught early, may still be capable of healing.Read more Adult SpondylolisthesisAn orientation to spondylolisthesis as it presents in the skeletally mature adult, where the two dominant patterns are adult isthmic and degenerative slips.Read more Degenerative SpondylolisthesisAn age-related forward slip in which the pars interarticularis remains intact, most often at L4/L5, frequently associated with lumbar spinal stenosis and neurogenic claudication.Read more Isthmic SpondylolisthesisA forward slip of one vertebra on the one below caused by a defect (stress fracture) in the pars interarticularis, most often at L5/S1 and most often linked to a defect acquired in youth.Read more Congenital (Dysplastic) SpondylolisthesisA forward slip at the lumbosacral junction arising from a developmental deficiency present from birth, where the often-intact neural arch carries the cauda equina forward over a domed sacrum.Read more High-Grade Spondylolisthesis (Meyerding Grades III–IV)A forward slip of more than half the underlying vertebral body, where deformity and sacro-pelvic balance — rather than the percentage of slip alone — come to dominate the clinical picture.Read more Spondyloptosis (Meyerding Grade V)The most severe form of spondylolisthesis, in which the upper vertebra has slipped beyond the front edge of the one below — dominated by severe lumbosacral kyphosis, marked sacro-pelvic imbalance and the highest neurological risk of any slip.Read more Revision Surgery for SpondylolisthesisA distinct undertaking from a first operation — addressing failures and complications that can follow a previous spondylolisthesis fusion, including pseudarthrosis, adjacent-segment disease, recurrent stenosis, instrumentation problems and sagittal imbalance.Read more

Lumbar Conditions

Low Back PainOne of the most common health complaints — usually non-specific, almost always improves with active management, and rarely needs surgery.Read more Lumbar Spinal Stenosis (Central Canal Stenosis)Narrowing of the central spinal canal in the lower back that crowds the cauda equina, classically producing bilateral leg heaviness, aching, or pins and needles that comes on with standing and walking and eases with sitting or leaning forward (neurogenic claudication).Read more Degenerative Disc DiseaseAn age-related change within the intervertebral discs of the lower back. Often painless and seen incidentally on scans; when symptomatic, the usual pattern is mechanical, axial low back pain rather than nerve compression.Read more Facet Joint PainPain from the small paired joints at the back of the spine that guide its movement. A recognised cause of back and neck pain, typically a deep ache worse with leaning back or twisting.Read more Bertolotti SyndromeLow back pain associated with a transitional lumbosacral vertebra and abnormal articulation.Read more Epidural LipomatosisSpinal epidural lipomatosis is an overgrowth of the normal fat that sits inside the spinal canal, which can crowd the space around the spinal cord and nerves. It is most often linked to long-term steroid use or to being overweight. This guide explains why it happens, how it is diagnosed on MRI, and how it is treated — usually by addressing the underlying cause.Read more

Neck Conditions

Neck Pain and Cervical SpondylosisNeck pain is extremely common and usually not serious. Cervical spondylosis is the age-related wear of the neck — present in most people with age and often painless. This guide explains when investigation and specialist input are and are not needed.Read more Arm Pain and Cervical RadiculopathyCervical radiculopathy is the medical term for the cluster of symptoms that arise when one of the nerve roots in the neck becomes compressed or irritated where it leaves the spine. Although the trouble starts in the neck, its most striking feature is often felt some distance away, as pain, pins and needles, numbness or weakness travelling down the arm into a particular part of the hand. The two commonest causes are a slipped (herniated) cervical disc and gradual narrowing of the bony channel through which the nerve exits, the result of age-related wear known as spondylosis. The single most reassuring fact about the condition is its natural history: the large majority of people improve substantially with time and simple measures, and only a minority come to need an operation.Read more Degenerative Cervical MyelopathyAlso known as cervical myelopathy or cervical spondylotic myelopathy — a slow, progressive injury to the spinal cord in the neck caused by age-related narrowing of the spinal canal. Early signs are often subtle: clumsy hands, mild unsteadiness, and altered sensation. Timely recognition and treatment offer the best outcomes.Read more Cervical Disc HerniationA herniated disc in the neck pressing on a nerve root — most often causing pain travelling down the arm. The majority of people improve over weeks to months without surgery. This guide explains when surgery is, and is not, needed.Read more Cervical KyphosisCervical kyphosis is the loss of the normal gentle forward curve of the neck (the cervical lordosis) and its replacement by a backward, or kyphotic, bend so that the neck curves the wrong way. In health the neck arches gently forwards, a shape that balances the head economically over the shoulders and keeps the eyes level with the horizon. When that curve flattens and then reverses, the head is carried forward of the body, the muscles at the back of the neck must work harder to hold the gaze up, and in the most severe cases the chin can come to rest towards or against the chest — the so-called chin-on-chest deformity. Cervical kyphosis is not a single disease but the final common shape produced by many different processes, including wear of the discs, previous surgery on the back of the neck, inflammatory conditions such as ankylosing spondylitis, injury, and disorders that weaken the neck muscles.Read more Cervical InstabilityCervical instability of the subaxial spine (the segments from C3 to C7) describes a state in which one neck vertebra moves too much, or in an abnormal pattern, against its neighbour under ordinary physiological loads. That excess or disordered movement is what can threaten the spRead more Atlantoaxial InstabilityAtlantoaxial instability describes excessive or abnormal movement between the first two bones of the neck, the atlas (C1) and the axis (C2). It is distinct from instability lower in the neck because this joint has no cushioning disc and relies almost entirely on ligaments and a sRead more Os OdontoideumOs odontoideum is a developmental or acquired anomaly of the upper neck in which a small, separate, well-corticated bone sits in place of the upper part of the odontoid peg (the dens) of the second cervical vertebra, with no bony continuity to the body below. Because the normal bRead more TorticollisTorticollis, sometimes called wry neck, is not a single disease but a sign: a twisted, tilted or turned posture of the neck in which the head is habitually held to one side. In a newborn it most often reflects tightness of one of the strap muscles of the neck (congenital muscular torticollis). In an older child it may be an acquired posture provoked by a sore throat, a minor neck injury, or a rotation of the topmost two vertebrae that becomes temporarily stuck — and very occasionally it is the first sign of something more serious within the spine or the base of the skull. In adults the commonest persistent form is cervical dystonia, a neurological condition in which the neck muscles contract involuntarily.Read more

Thoracic Conditions

Thoracic Disc HerniationA bulge or rupture of a disc in the mid-back. Uncommon, often silent and found by chance, and only occasionally the cause of real symptoms — but when the spinal cord is involved, the way any surgery is done matters enormously.Read more Thoracic RadiculopathyThoracic radiculopathy is pain, altered sensation or, rarely, weakness arising from irritation or compression of one of the nerve roots in the thoracic spine, the long middle section of the backbone that lies behind the chest and upper abdomen. Its hallmark is a band of pain that wraps around the trunk like a belt, following the path of the affected nerve from the spine, around the side of the bodRead more Thoracic Myelopathy & Ossification of the Ligamentum Flavum (OLF)Thoracic myelopathy is a disturbance of the spinal cord within the thoracic spine, the long mid-section of the back behind the chest. It is far less common than the cervical myelopathy of the neck or the stenosis of the lower back, and it is one of the more frequently delayed diagnoses in spinal practice, partly because its symptoms in the legs and bladder can closely imitate problems arising loweRead more Thoracic Spinal StenosisThoracic spinal stenosis is a narrowing of the spinal canal in the mid-back, the long thoracic region that runs between the neck above and the lower back below. It is much less common than the narrowing that occurs in the lumbar spine or the neck, and it behaves quite differently from both. Because the thoracic canal contains the spinal cord itself, rather than the looser bundle of nerves found loRead more Thoracic Outlet SyndromeThoracic outlet syndrome is the name given to a group of disorders caused by compression of the nerves or blood vessels as they pass from the neck and upper chest into the arm, through the narrow channels above and behind the collarbone. Most cases are neurogenic, meaning the lower part of the brachial plexus, the bundle of nerves supplying the arm and hand, is affected. Because those nerves ariseRead more

Spinal Deformity

Adolescent Idiopathic ScoliosisA three-dimensional curvature of the spine that develops during the adolescent growth spurt — usually mild, painless, and entirely compatible with a full, active life.Read more Early Onset ScoliosisEarly onset scoliosis is the term used for any sideways curvature of the spine that begins before the age of ten, whatever its underlying cause. The age cut-off is not arbitrary. It marks out the period in which the lungs and the chest are still being built, and that single fact is what sets early onset scoliosis apart from the more familiar curves that appear in teenagers. In a teenager, scoliosiRead more Infantile Idiopathic ScoliosisInfantile idiopathic scoliosis is a sideways curvature of the spine that arises in very young children, by definition before the third birthday, with no identifiable cause and with normally formed vertebrae. It occupies an unusual place among the scolioses. On the one hand, the majority of these curves are gentle and resolve entirely on their own, leaving no trace; on the other, a minority are proRead more Adult ScoliosisA sideways curve of the spine in an adult. In adults, what matters most is whether the spine is balanced, whether it causes pain or nerve symptoms, and how it affects daily life — not simply the size of the curve.Read more Congenital ScoliosisScoliosis due to abnormally formed vertebrae present from birth.Read more Neuromuscular ScoliosisCurvature of the spine associated with an underlying neurological or muscular condition.Read more KyphosisAn excessive forward (outward) curve of the spine, usually in the upper back. Kyphosis is a pattern with several distinct causes — from postural rounding in adolescence to fractures in older age — and the cause determines the outlook and the treatment.Read more Adult Spinal DeformityAn umbrella term for an abnormal shape or alignment of the adult spine — scoliosis, kyphosis, loss of the normal lower-back curve, or a combination. In adults, what matters most is not the size of the curve but whether the spine remains balanced over the pelvis, because it is loss of balance that drives pain, fatigue and disability.Read more

Other Conditions

Osteoporotic Spinal FracturesThe collapse or wedging of a vertebra weakened by osteoporosis. Most are stable, settle over six to twelve weeks, and many are silent — but every fragility fracture is a warning sign that the underlying osteoporosis is typically assessed and treated, because that is what prevents the next fracture.Read more Ankylosing Spondylitis and the SpineA chronic inflammatory arthritis of the spine and sacroiliac joints that can stiffen and, over time, fuse the spine. Led by rheumatology — and with one overriding spinal-surgery message: a fused spine is brittle, and any new pain after even minor injury is typically assessed urgently.Read more OPLL — Ossification of the Posterior Longitudinal LigamentA ligament running down the back of the vertebral bodies, inside the spinal canal, gradually turns to bone — most often in the neck. Frequently silent and found by chance, but when it presses on the spinal cord it matters, and a particular risk is sudden deterioration after even a minor fall.Read more Rheumatoid Arthritis and the SpineRheumatoid arthritis is a long-term inflammatory disease most people associate with the hands and feet, but it can also affect the spine — almost always the upper neck rather than the lower back. Modern medical treatment has made serious spinal involvement far less common than it once was, but recognition and monitoring still matter.Read more Functional Neurological DisorderA condition in which the nervous system stops working properly, producing genuine symptoms — weakness, altered sensation, tremor, walking difficulty and pain — without the structural damage seen on scans. Often mistaken for a spinal problem.Read more

Previous Spine Surgery Conditions

Failed Back Surgery Syndrome (Persistent Spinal Pain After Surgery)Persistent or recurrent back or leg pain that continues, or returns, after spinal surgery. The name is misleading and is being replaced by persistent spinal pain syndrome — because the operation often did exactly what it was meant to do, and the pain persists for other reasons. The key is a careful search for any specific, treatable cause and an individualised plan.Read more Recurrent Sciatica After Spine SurgeryReturn, or persistence, of radiating leg pain after a lumbar discectomy or decompression. A single complaint with several distinct underlying causes — a fresh disc fragment, a retained fragment, scar tissue around the nerve, a new-level problem, instability of the operated segment, or a slowly recovering nerve. The timing of the pain and contrast-enhanced MRI are central to telling them apart.Read more Residual StenosisSpinal narrowing that remains after a decompression operation: incomplete decompression at the level that was operated upon. Its defining feature is timing — because the compression was never entirely cleared, symptoms tend to persist from the moment of recovery rather than returning after a comfortable interval.Read more Adjacent Segment DiseaseDevelopment of new symptoms at a mobile spinal level lying immediately next to a previous spinal fusion. The most important idea is the distinction between mere wear on a scan (adjacent segment degeneration, often silent) and genuine disease that produces symptoms (much less common).Read more Pseudarthrosis (Failed Spinal Fusion)Failure of a spinal fusion to heal into a solid block of bone — a 'false joint' where a persistent fibrous, mobile or partly mobile gap remains. The single most important idea is that it is, at heart, a failure of bone healing, distinct from breakage or loosening of the metalwork, wear at the next-door level, and infection.Read more Spinal Implant FailureMechanical breakdown of the metalwork holding the spine after a fusion — screw loosening or pull-out, rod fracture, cage migration or subsidence, or loosening of set-screws and connectors. The most important idea is that it is a mechanical event, intimately linked to but distinct from a failure of the bone to fuse.Read more Flat Back SyndromeLoss of the spine's natural lower curve (the lumbar lordosis), so that the trunk is pitched permanently forward and cannot be held fully upright. Classically a long-term consequence of earlier spinal surgery — the straight distraction rods once used to correct scoliosis, or a lumbar fusion set in too little curve.Read more Sagittal ImbalanceLoss of the normal front-to-back alignment of the spine, so that the trunk and head come to be carried forward of the pelvis and feet, producing a stooped, forward-tilted posture. It is the broad, whole-spine and pelvis umbrella concept of which flat back syndrome and proximal junctional kyphosis are particular causes, and the deformity parameter most strongly linked to pain and disability.Read more Revision Spine SurgeryOperating again on a spine that has already been operated upon. A whole family of operations united by one demanding circumstance — the surgeon is working in a field that previous surgery has already altered — and governed by a single principle: the most important determinant of a good result is establishing a clear, correctable, structural diagnosis before re-operating.Read more Proximal Junctional Kyphosis (PJK)An abnormal forward angulation of the spine just above the top of a long spinal fusion. One of the most common findings after major surgery for adult spinal deformity, in its purest form a measurement on an X-ray rather than a problem felt by the person — the great majority who develop it never need anything done about it.Read more Proximal Junctional Failure (PJF)The severe, structural form of a problem that can develop at the top of a long spinal fusion — an actual mechanical breakdown of bone, ligament or metalwork at the junction, sometimes with pressure on the nerves. Distinct from proximal junctional kyphosis (PJK), which is the often-silent radiographic angle; PJF is a structural failure rather than a measurement, and commonly needs further surgery.Read more Spine Infection After SurgeryA surgical site infection that develops in the tissues of the operated spine — in the skin and fat above the deep covering layer, or in the deeper muscle, bone, disc and any metalwork below it. Ranges from a minor superficial wound infection that settles with simple measures to a deep infection around an instrumented fusion that threatens both the construct and the nearby nerves.Read more Cage SubsidenceGradual sinking of an interbody fusion cage into the bone of the vertebra above or below it after spinal fusion surgery. A modest degree of settling is common, frequently silent, and may even help the bone and implant share load. The concern lies at the other end — severe or progressive subsidence that undoes the height and alignment the operation achieved. The defining feature is that this is the bone giving way under the cage, not the metalwork breaking.Read more Persistent Nerve Pain After Spine SurgeryLeg or arm pain of a nerve, or neuropathic, character that continues after an operation that was technically adequate. The pain arises from the nerve itself, from the original injury, from chronic irritation or scarring around it, or from changes in the way the nervous system itself processes pain — rather than from any fresh, surgically-correctable compression. This is what sets it apart from structural neighbours such as recurrent disc herniation or residual stenosis.Read more

Trauma & Spinal Injuries

Genetic & Connective Tissue Disorders

Ehlers-Danlos Syndrome (EDS)A group of inherited connective-tissue disorders, usually caused by abnormalities of collagen, that affect the spine because the spine is built and held together almost entirely by connective tissue. EDS is associated with craniocervical and atlantoaxial instability, early multilevel disc degeneration, scoliosis and kyphoscoliosis, dural ectasia, Tarlov cysts, spontaneous CSF leaks, tethered cord, spondylolisthesis and, when surgery is contemplated, particular challenges from fragile soft tissue and slower, less predictable healing.Read more Marfan SyndromeAn inherited connective-tissue disorder, usually caused by a fault in the FBN1 gene that codes for fibrillin-1. The same weakness that affects the aorta shapes the spine, producing scoliosis that often appears early and can progress quickly, a tendency to thoracolumbar kyphosis, characteristic dural ectasia, and tall slender vertebrae with thin pedicles and lax ligaments. Any spinal consideration is weighed alongside the cardiovascular and other systemic features.Read more Loeys-Dietz SyndromeAn inherited connective-tissue disorder caused by faults in the TGF-β signalling pathway. Best known for aortic aneurysm and arterial tortuosity, it has a particular tendency to affect the top of the neck, with craniocervical and atlantoaxial instability and cervical vertebral malformations and fusions, as well as scoliosis and kyphoscoliosis, early progressive spondylolisthesis and dural ectasia. Surgery is shaped by fragile tissues and a tortuous, aneurysm-prone vascular background.Read more Osteogenesis ImperfectaAn inherited disorder of bone collagen, often called brittle bone disease, that leaves the skeleton fragile and prone to fracture. The spinal consequences include biconcave 'codfish' vertebrae, progressive scoliosis and kyphosis, lumbosacral spondylolisthesis, and a characteristic softening at the craniocervical junction known as basilar invagination. Bracing is poorly tolerated; bisphosphonates strengthen the vertebrae and reduce fracture; and any surgery is shaped by the difficulty of fixing metalwork into soft bone.Read more

Neuromuscular Disorders

Charcot-Marie-Tooth Disease (CMT)Charcot-Marie-Tooth disease is the commonest inherited disorder of the peripheral nerves and carries a recognised association with curvature of the spine. The neuromuscular scoliosis of CMT often combines a sideways curve with an exaggerated forward kyphosis, is more frequent in the demyelinating type 1 group and in CMT4C, tends to resist bracing, and is managed by observation for small curves and reconstructive fusion for large or progressive deformity, with particular attention to hip dysplasia and to the technical challenges of intraoperative neuromonitoring in a person whose peripheral nerves are already affected.Read more Friedreich's AtaxiaFriedreich's ataxia is an inherited, progressive neurological disorder caused by a shortage of the protein frataxin, in which a sideways and rotated curvature of the spine develops in close to every affected person. The curve is neuromuscular in origin, driven by loss of automatic postural control, often less stereotyped than idiopathic scoliosis, frequently accompanied by hyperkyphosis, and able to continue progressing after skeletal maturity. The cardiomyopathy that accompanies the condition casts a long shadow over the timing and conduct of deformity surgery, which when performed is generally a long posterior fusion aimed at a balanced, stable trunk and a halt to further progression.Read more Cerebral PalsyCerebral palsy is a non-progressive disorder of movement and posture caused by an early injury to the developing brain, and its loss of balanced trunk control allows a long, sweeping C-shaped neuromuscular scoliosis with pelvic obliquity to develop, particularly in non-ambulant children at the higher GMFCS levels. The curve frequently progresses through growth, may continue worsening into adulthood, and most disturbs sitting, seating and care, intimately linked to the hips through the pelvis. Surgery for severe deformity is typically a long posterior fusion to the pelvis aimed at a level, comfortable seated posture, with substantial benefits set against a genuinely high complication profile that reflects the fragility of these patients.Read more Spinal Muscular Atrophy (SMA)Spinal muscular atrophy is an inherited disorder of the motor neurones in the spinal cord, caused in almost all cases by a fault in the SMN1 gene, in which the weakness of the trunk muscles allows a long, collapsing C-shaped neuromuscular scoliosis with pelvic obliquity to develop in the great majority of children with the more severe forms. The spine and the lungs are inseparable in this condition, and the arrival of disease-modifying drugs such as nusinersen — delivered by lumbar puncture — has both increased the relevance of the spinal problem and added the new demand of preserving intrathecal access through a fused spine. Surgery ranges from magnetically controlled growing rods in younger children to definitive posterior fusion to the pelvis at maturity.Read more Muscular DystrophyMuscular dystrophy is a group of inherited conditions in which faulty muscle proteins cause progressive weakness and wasting; in the most severe form, Duchenne muscular dystrophy, the loss of trunk-muscle support after a boy moves into a wheelchair allows a long, collapsing C-shaped neuromuscular scoliosis with pelvic obliquity to develop and progress rapidly while breathing and heart function decline. Long-term glucocorticoid treatment, by prolonging walking, has dramatically reduced the frequency and severity of scoliosis, and where surgery is undertaken it is a long posterior fusion — often extending to the pelvis — performed within a narrow window in which respiratory and cardiac reserve still allow a major operation.Read more Spina BifidaSpina bifida is a congenital neural tube defect spanning a wide spectrum from the harmless spina bifida occulta to severe open myelomeningocele, in which a malformed and often tethered spinal cord sits within a malformed, posteriorly deficient spinal column. In myelomeningocele the combination of paralysed and unbalanced trunk muscles, absent posterior bony bracing, an underlying tethered cord and frequent congenital vertebral anomalies produces very high rates of scoliosis and a characteristic rigid, skin-threatening congenital kyphosis (gibbus), with severity tracking the neurological level. Surgery is among the most demanding in spinal practice — high rates of wound problems, infection, pseudarthrosis and the frequent need for fusion to the pelvis — and the brain, cord and column must always be considered together.Read more

Rare Neurological Disorders Associated with Spinal Deformity

Riley-Day Syndrome (Familial Dysautonomia)Riley-Day syndrome, more properly called familial dysautonomia (HSAN III), is a rare inherited disorder of the autonomic and sensory nervous systems — caused by an IKBKAP/ELP1 mutation, overwhelmingly in people of Ashkenazi Jewish descent — in which the great majority develop progressive neuromuscular scoliosis or kyphoscoliosis from childhood. The combination of friable osteoporotic bone, severe autonomic instability and dysautonomic crises, recurrent aspiration with restrictive lung disease, and a long curve requiring extensive fixation makes spinal deformity surgery in this condition one of the most perilous undertakings in spinal practice, with complication rates well above those of ordinary adolescent scoliosis.Read more Congenital Insensitivity to Pain (HSAN IV)Congenital insensitivity to pain with anhidrosis (HSAN IV) is a rare inherited NTRK1-related disorder in which the nerves that carry pain and temperature sensation never develop, so that the spine is repeatedly injured, fractured and overloaded without the person ever knowing. The cumulative, unprotected damage produces a destructive neuropathic (Charcot) spine — collapsing, fragmenting and grossly disorganised segments — together with unrecognised vertebral fractures and progressive scoliosis. Surgical reconstruction is uniquely difficult, with very high rates of non-union, hardware failure, infection and recurrent breakdown, because the same insensate loading that destroyed the spine continues to act on the construct.Read more

Inflammatory & Metabolic Disorders

Axial SpondyloarthritisAxial spondyloarthritis, usually shortened to axSpA, is a chronic inflammatory condition that centres on the spine and the sacroiliac joints, the paired joints where the base of the spine meets the pelvis. It is best understood as an umbrella term covering a spectrum of disease. At one end lies radiographic axial spondyloarthritis, which is the condition long known as ankylosing spondylitis, in which damage to the sacroiliac joints is visible on plain X-rays. At the other lies non-radiographic axial spondyloarthritis, in which the inflammation is present and often visible on MRI, but the characteristic structural damage has not yet appeared on plain films. The two are now regarded as parts of one continuous disease rather than separate illnesses. The hallmark of axSpA is inflammatory back pain that begins in early adult life, eases with movement and worsens with rest, and over many years the inflammation can drive new bone to form across the joints of the spine, gradually stiffening and in some people fusing it. From the perspective of a spinal surgeon, the features of greatest interest are the late mechanical consequences of that fusion: a spine that has knitted into a single rigid column behaves quite differently from a normal one, becoming both prone to a particular pattern of fracture after seemingly minor injury and, in some people, fixed in a stooped forward posture. This page describes axSpA as a whole and its effect on the spine; a separate page deals specifically with ankylosing spondylitis.Read more Psoriatic ArthritisPsoriatic arthritis is a chronic inflammatory arthritis associated with the skin condition psoriasis, and in a substantial minority of those affected it involves the spine. This spinal form, known as axial psoriatic arthritis or psoriatic spondylitis, is the focus of this page. It belongs to the family of conditions called the spondyloarthritides, the same family that contains ankylosing spondylitis, and it shares with them a tendency to cause inflammatory back pain, inflammation where ligaments and tendons attach to bone, and, over many years, new bone formation that can stiffen and in places fuse the spine. Yet psoriatic spondylitis has a character of its own. It is often more asymmetrical than ankylosing spondylitis, it produces a coarser, more irregular kind of bony bridge between the vertebrae, it does not always involve the joints at the base of the spine in a symmetrical way, and it is less consistently linked to the genetic marker HLA-B27. From the perspective of a spinal surgeon, the importance of psoriatic spondylitis lies less in the everyday inflammatory aching and more in the long-term architectural consequences of an inflammatory ankylosing process: the gradual stiffening of the neck and back, the occasional instability at the top of the neck, and the altered mechanics of a spine that has, in part, lost its natural flexibility.Read more Diffuse Idiopathic Skeletal Hyperostosis (DISH)Diffuse idiopathic skeletal hyperostosis, abbreviated to DISH and historically known as Forestier's disease, is a condition in which the ligaments and entheses of the body progressively turn to bone. In the spine, its defining feature is a flowing curtain of new bone laid down along the front and side of the vertebral column, most often in the thoracic region, bridging one vertebra to the next while the discs themselves remain largely preserved. It is common in older people, more frequent in men, and closely linked with metabolic factors such as diabetes and obesity. For long stretches it is silent and discovered by chance on a scan taken for another reason. From the point of view of the spine, however, DISH matters for a handful of specific reasons: large bony outgrowths at the front of the neck can press on the swallowing passage; the long, rigid, fused column behaves mechanically like a single long bone and can fracture in an unstable way after even minor trauma; and the same tendency to lay down bone can narrow the spinal canal. The single most important idea is that a DISH spine is a stiff, brittle spine, and that this stiffness changes how it behaves in almost every situation.Read more Paget's Disease of BonePaget's disease of bone is a chronic disorder of bone remodelling, the lifelong process by which old bone is removed and new bone laid down in its place. In affected areas this orderly cycle becomes disordered and runs too fast: bone is broken down by overactive, oversized cells and then rebuilt in a hurried, structurally chaotic fashion. The result is bone that is larger and denser to look at but mechanically weaker, prone to bending, fracturing and overgrowing the spaces around it. The condition has a strong preference for certain parts of the skeleton, and after the pelvis the spine is the commonest site of all, with the lumbar region most often affected. In the spine the disordered remodelling enlarges and deforms the vertebrae, and it is this enlargement, in a confined bony canal that houses the spinal cord and nerve roots, that gives Paget's disease its particular relevance to the spinal surgeon. Much pagetic disease is silent and discovered by chance; where it does cause trouble in the spine, it does so chiefly through back pain, narrowing of the spinal canal, fracture and deformity, and, rarely, malignant change. The single most important idea is that this is a disease of bone that is being remodelled wrongly, producing bone that is bigger but weaker, and the spinal consequences flow from that one fact.Read more Osteomalacia and the SpineOsteomalacia is a disorder in which newly formed bone fails to mineralise properly, so that the protein scaffold of the skeleton, the osteoid, is laid down but is not adequately hardened with calcium and phosphate. The result is bone that is soft rather than scarce. In the spine this matters in a particular way, because the vertebrae carry the weight of the body and depend on a hard mineral shell to do so. When that shell is soft, the vertebrae yield under load, the back aches diffusely, the bone is tender, and over time the vertebral bodies can deform into the smooth biconcave shape long known to radiologists as the "codfish" or "fish" vertebra. The commonest cause by far is a lack of vitamin D, but a shortage of phosphate, including the rare tumour-driven and inherited forms, produces the same softening. The single most important idea, and the one that sets osteomalacia apart from osteoporosis, is that this is a problem of bone quality rather than bone quantity: the bone is present but poorly hardened. That distinction carries real weight when spinal surgery and metalwork are being considered, because soft, under-mineralised bone holds screws and cages poorly until the mineralisation is restored.Read more Osteoporosis and the SpineOsteoporosis is a condition in which bone becomes thinner, more porous and mechanically weaker, so that it fractures under loads that healthy bone would withstand. Although it affects the whole skeleton, the spine is where it most often declares itself, because the vertebral bodies are made largely of the spongy, honeycomb-like bone that osteoporosis erodes first. The characteristic spinal event is the osteoporotic vertebral compression fracture, in which a vertebra crumples and loses height, frequently after a trivial strain or no obvious injury at all. These fractures are the commonest fragility fracture of all, and they tend to come not singly but in a cascade, each one increasing the load on its neighbours and the risk of the next. Over time, repeated fractures round the upper back into a forward-stooped curve, the kyphosis sometimes called a dowager's hump, and the person loses height. Beyond the fractures themselves, low bone density is the backdrop against which all spinal surgery is planned, because weak bone holds screws less securely, allows cages to sink and underlies several of the ways that spinal instrumentation can fail. The single most important idea is that osteoporosis is a disease of bone strength, and the spine is both its commonest victim and the place where that weakness most complicates treatment.Read more

Benign Spinal Lesions & Cysts

Vertebral HaemangiomaA vertebral haemangioma is a common, benign collection of blood vessels within the bone of a vertebra. In the great majority of cases it is an incidental finding on a scan performed for another reason, causes no symptoms, and requires nothing beyond recognition. Only a very small minority ever become symptomatic or behave in an aggressive fashion, and those rare cases are managed by specialist spinal and multidisciplinary teams.Read more Perineural CystAn in-depth, evidence-based guide to perineural cysts of the spine — fluid-filled sacs that form around nerve roots, why most cause no trouble, and how the minority that do are assessed and treated.Read more Tarlov Cyst (Sacral Perineural Cyst)An in-depth, evidence-based guide to Tarlov cysts — sacral perineural cysts that form around the nerve roots at the base of the spine, why most are harmless, and how symptomatic cysts are assessed and treated.Read more Spinal Arachnoid CystAn in-depth, evidence-based guide to spinal arachnoid cysts — fluid-filled sacs of the spinal lining that can press on the spinal cord or nerves, and how they are assessed and treated.Read more

Anatomical Variants

Lumbosacral Transitional Vertebra (LSTV)A lumbosacral transitional vertebra, often shortened to LSTV, is one of the most common anatomical variations of the lower spine. It describes a vertebra at the junction between the lumbar spine and the sacrum that has taken on a mixture of lumbar and sacral characteristics, sitting somewhere between the two. In the usual arrangement the five lumbar vertebrae sit above a fused block of bone called the sacrum. In an LSTV the lowest lumbar vertebra may become partly or wholly incorporated into the sacrum, a pattern known as sacralisation, or the uppermost sacral segment may separate and behave more like a lumbar vertebra, a pattern known as lumbarisation. The hallmark is an enlarged sideways-projecting bony wing, the transverse process, of the last lumbar segment, which may simply be broadened, may form a false joint with the sacrum or pelvis, or may fuse to it completely. This is a variant of normal anatomy rather than a disease. It is present from birth, is found in something like a quarter of people across the published range, and in the great majority causes no symptoms whatsoever and is discovered incidentally on a scan performed for another reason. Its importance is twofold: in a minority it is associated with back pain through a mechanism named Bertolotti syndrome, and in everyone it matters for the accurate counting and labelling of spinal levels before any procedure on the spine.Read more Lumbarisation of S1Lumbarisation of S1 is a common, usually harmless anatomical variant in which the first segment of the sacrum is partly or fully separated from the rest of the sacrum and takes on the appearance and behaviour of an extra, sixth lumbar vertebra. It belongs to a family of variants known collectively as lumbosacral transitional vertebrae, in which the boundary between the mobile lumbar spine and the fused sacrum is shifted in one direction or the other. Lumbarisation is the less common of the two main forms, the other being sacralisation, in which the lowest lumbar vertebra fuses partly with the sacrum. In the great majority of people, lumbarisation of S1 is discovered by chance on a scan performed for some other reason and is of no consequence to health. Its principal importance is practical rather than medical: because it changes the number of mobile segments and the way the spine is counted, it can confuse the labelling of vertebral levels on imaging, and that matters when planning any procedure that must be carried out at a precise level. This page is strictly educational and does not offer medical advice.Read more Sacralisation of L5Sacralisation of L5 is an anatomical variation in which the fifth lumbar vertebra, the lowest of the mobile vertebrae of the lower back, is partly or fully joined to the sacrum, the solid block of bone at the base of the spine. It is the commoner form of a broader group of variants known as the lumbosacral transitional vertebra, where the boundary between the lowest lumbar level and the sacrum is blurred. In sacralisation, the transverse process of L5, the wing of bone that projects to the side, becomes enlarged and either forms a false joint with the sacrum or fuses solidly to it, on one or both sides. This is overwhelmingly a variant of normal anatomy that a person is born with rather than a disease; it is very common, is usually discovered by chance on a scan performed for another reason, and in most people causes no symptoms at all. Its main practical consequences are subtle ones: it can make the lower spine appear to have only four lumbar vertebrae rather than five, it can lead to levels being miscounted on imaging, and it alters the way load is shared between the lowest segments, tending to protect the disc immediately below while placing a little more demand on the level above. In an uncommon minority, a false joint formed by an enlarged transverse process can itself become a source of pain, a situation known as Bertolotti syndrome.Read more HemivertebraA hemivertebra is a congenital vertebral anomaly, meaning a difference in the shape of a spinal bone that is present from birth. It belongs to the group of malformations described as a failure of formation, in which only part of a vertebra develops as the spine is being laid down in early pregnancy. In its classic form, just one half of a vertebral body forms, producing a triangular wedge of bone, often with a single pedicle and half an arch behind it, rather than the rounded, symmetrical block of a normal vertebra. Because this wedge is taller on one side than the other, it can tilt the bones above and below it and seed a sideways curve, a congenital scoliosis, or a forward-bending curve, a congenital kyphosis, depending on where the missing portion lies. The single most important idea is that a hemivertebra is a structural building-block difference set down before birth, not a curve that develops later from posture or wear, and that its behaviour over time varies enormously: some remain incidental and stable throughout life, while others drive a curve that grows as the child grows.Read more Butterfly VertebraA butterfly vertebra is a congenital variation in the shape of a single vertebra, in which the two side-by-side halves of the vertebral body fail to join completely in the midline during early development. The result is a vertebra split by a vertical (sagittal) cleft, with each half tapering inwards towards the centre, so that on a front-on image the bone resembles the two wings of a butterfly. It is also called a sagittal cleft vertebra. The single most important idea to hold on to is that, in the great majority of cases, a butterfly vertebra is an incidental and harmless anatomical variant — a quirk of how the spine formed before birth rather than an injury, an infection or a tumour. It is most often discovered by chance on an X-ray, CT or MRI scan performed for some unrelated reason, frequently causes no symptoms at all, and usually requires nothing more than being correctly recognised for what it is. Its chief clinical importance is precisely that it can be mistaken on imaging for something more serious, such as a fracture or a deposit of cancer, when in fact it is a benign shape the person has carried since birth.Read more Block VertebraA block vertebra is a single bony unit formed when two or more adjacent vertebrae are joined together rather than separated by a normal disc. In its commonest form it is congenital, meaning it has been present since before birth: during early development the spine forms as a column of repeating segments, and a block vertebra arises when neighbouring segments fail to divide from one another, so they remain united into a single block. This is a developmental variant of spinal anatomy rather than a disease, and in the great majority of people it is found by chance on a scan or X-ray taken for some unrelated reason, having caused no symptoms at all across a lifetime. The classic appearance on imaging is a narrowing at the join, often described as a "wasp-waist", together with a small or rudimentary remnant of disc and a smooth, continuous bony structure running through the fused level. The central idea is that a congenital block vertebra is, in most cases, simply a quirk of how the spine assembled itself, and that it is distinguished both from fusion acquired later in life through inflammation, infection or surgery, and by the fact that the loss of movement at the fused level places its main long-term significance on the neighbouring, mobile levels rather than on the block itself.Read more Transitional VertebraA transitional vertebra is a vertebra that sits at the border between two regions of the spine and takes on features of both, so that it is not a clear member of either region. The spine is conventionally divided into the neck (cervical), chest (thoracic), lower back (lumbar) and the fused base (sacrum), but these regions blend into one another at their junctions rather than ending abruptly. A transitional vertebra is the visible expression of that blending: a segment at a junction that carries some characteristics of the region above and some of the region below. Such vertebrae arise at the cervicothoracic junction (where the lowest neck vertebra may bear a small extra rib), at the thoracolumbar junction (where the lowest rib-bearing segment may carry only a tiny or stunted rib), and most commonly at the lumbosacral junction (where the lowest lumbar vertebra is partly incorporated into the sacrum, or the topmost sacral segment is partly separated from it). The single most important idea is that a transitional vertebra is, in the great majority of cases, a common and harmless anatomical variant, usually discovered incidentally on a scan, and that its main practical significance lies not in causing disease but in making sure the levels of the spine are counted and named correctly.Read more Cervical RibA cervical rib is an extra, or supernumerary, rib that arises from the seventh cervical vertebra, the lowest bone of the neck, sitting just above the normal first rib. It is an anatomical variant that is present from birth, formed during the earliest development of the skeleton, and in the great majority of people it is entirely silent, causing no symptoms and discovered, if at all, only by chance on an X-ray or scan performed for some other reason. A cervical rib may be a fully formed bony rib, a short bony stub, or no more than a fibrous band of tissue too thin to be seen on a plain film. It is more common in women than in men and is frequently present on both sides. The single most important idea is that a cervical rib is, for most people who have one, a harmless quirk of anatomy rather than a disease. In a minority, however, the extra rib or its associated band can crowd the narrow space at the base of the neck through which the nerves to the arm and the main artery and vein to the limb must pass, and this crowding can contribute to a condition called thoracic outlet syndrome. This page explains, in general and educational terms, what a cervical rib is, why it forms, how often it causes trouble, and what the medical literature describes about how it is assessed and managed.Read more Accessory Lumbar RibAn accessory lumbar rib is a small extra rib that grows from one of the lumbar vertebrae, most often the first lumbar vertebra, known as L1, which sits just below the lowest of the usual twelve thoracic vertebrae. It is a developmental quirk of the way the spine is patterned before birth rather than a disease, an injury or a sign of anything having gone wrong. In the great majority of people who have one it causes no symptoms at all and is discovered purely by chance on a scan or X-ray performed for some other reason. Its real importance lies not in any harm it does to the person, but in the potential to confuse the reading of images: an extra rib at L1 can be miscounted as a normal twelfth rib, throwing out the numbering of the vertebrae, and it can occasionally be mistaken for a fracture of a transverse process. The single most useful idea to hold on to is that an accessory lumbar rib is, almost always, a harmless anatomical variant whose chief significance is making sure the spine is counted and labelled correctly.Read more Spina Bifida OccultaSpina bifida occulta is a very common, minor anatomical variant of the spine in which one of the bony arches at the back of a vertebra, most often the lowest lumbar vertebra (L5) or the top of the sacrum (S1), fails to fuse completely in the midline during early development. The word "occulta" means hidden, and that single word captures almost everything that matters about it. The defect is purely in the bone; the spinal cord, the nerves and their protective coverings, the meninges, are entirely normal and remain safely enclosed within the spinal canal. Nothing is exposed and nothing protrudes. For this reason spina bifida occulta is, in the overwhelming majority of people, completely harmless and causes no symptoms whatsoever. It is so common that it is found in roughly one in ten to one in five of the population, and it is usually discovered entirely by chance on an X-ray or scan performed for some other reason. It is fundamentally different from the serious open forms of spina bifida, the meningocele and the myelomeningocele, in which neural tissue or its coverings are involved. The single most important idea is that occulta means hidden and closed: a quiet variation in the shape of a bone, not a disease of the nervous system.Read more Conjoined Nerve RootsA conjoined nerve root is an uncommon but well-recognised anatomical variant of the spine in which two adjacent nerve roots, instead of leaving the spinal canal separately at their own levels, share a common origin or a common sheath of the protective lining, the dura, for part of their course. It is a variation in the way a person's nerves are arranged from birth, not a disease, an injury or anything that has gone wrong. The great majority of conjoined nerve roots cause no symptoms at all and are discovered by chance when a scan is performed for some unrelated reason, or are never found at all. Their importance is not that they cause harm in everyday life, but that they need to be recognised on imaging before any operation on the lower back, because in the operating field a conjoined root can resemble a fragment of slipped disc and, being tethered and less mobile than a normal root, it is more vulnerable to being injured if it is not anticipated. The single most important idea is that this is a harmless quirk of anatomy whose chief significance lies in being seen and respected before lumbar surgery.Read more Low-Lying Conus MedullarisThe conus medullaris is the tapering, cone-shaped lower end of the spinal cord, where the cord narrows and gives way to the fanned-out bundle of nerve roots known as the cauda equina. In the great majority of adults this tapering tip sits at around the level of the first lumbar vertebra, with a normal range that runs from the lower part of the twelfth thoracic vertebra to the upper or mid part of the second lumbar vertebra. A "low-lying conus medullaris" is a description used on an imaging report when this tip is seen to sit lower than that normal range, most often defined as below the middle of the second lumbar vertebra. The single most important idea is that a low-lying conus is a finding on a scan, not a diagnosis in itself. In some people it is a borderline anatomical variant of no consequence; in others it is a marker of an underlying condition that fixes the cord in place, known as tethered cord syndrome, often with associated findings such as a thickened or fatty filum terminale or a form of occult spinal dysraphism. Whether a low-lying conus carries significance depends on the wider picture on the scan and, above all, on whether there are symptoms.Read more Facet TropismFacet tropism is asymmetry in the orientation, or angle, of the two paired facet joints at a given level of the spine, so that one joint sits in a more sideways-facing (coronal) plane while its partner sits in a more front-to-back (sagittal) plane. The facet joints are the small paired joints at the back of each spinal segment that guide and limit movement. Their angle normally changes smoothly from the upper to the lower spine, and a degree of left–right difference is extremely common. When that difference exceeds an agreed threshold on a cross-sectional scan, it is labelled facet tropism. It is best understood as a common anatomical variant, an ordinary difference in build, rather than a disease in its own right. Much of the medical literature has examined whether tropism is associated with conditions such as disc degeneration, disc herniation and degenerative spondylolisthesis, and the picture that emerges is of a possible contributory factor whose links remain debated and inconsistent, not a proven cause. This page explains the normal anatomy, what tropism means, how it is measured, and what the evidence does and does not show. It is strictly educational and does not offer medical advice.Read more

Syndromes Associated with Scoliosis & Spinal Disorders

DiGeorge Syndrome (22q11.2 Deletion Syndrome)DiGeorge syndrome, more precisely termed 22q11.2 deletion syndrome, is the most common chromosomal microdeletion disorder in humans, arising when a small segment is missing from the long arm of one copy of chromosome 22. It affects roughly one in every four thousand live births and produces an extraordinarily varied picture, with features that can touch the heart, the immune system, the parathyroid glands, the palate, facial appearance, learning and development. From the point of view of the spine, this guide concentrates on the part of the syndrome that most concerns a spinal surgeon: a markedly increased tendency to scoliosis, a striking frequency of anomalies in the bones of the neck and upper spine, and a scattering of segmentation defects such as butterfly vertebrae. The single most important idea is that the spinal features of 22q11.2 deletion syndrome are common, are usually mild, and tend to behave much like ordinary adolescent idiopathic scoliosis, while a smaller group of changes in the upper cervical spine deserve particular care and recognition.Read more Down SyndromeDown syndrome, or trisomy 21, is the most common chromosomal condition in humans, arising when a person carries an extra copy of chromosome 21. It is associated with a recognisable pattern of features across many body systems, but from the standpoint of spinal care the central theme is a generalised laxity of the ligaments and a softness of muscle tone that together loosen the joints throughout the skeleton, and most importantly at the top of the neck. The junction between the skull and the first two vertebrae is the area of greatest concern. Here, loose ligaments and, in some individuals, an underdeveloped or separated peg of bone at the front of the second vertebra can allow more movement than the spinal cord can safely tolerate. This is termed craniocervical instability, of which atlantoaxial instability is the best known form. Further down the spine, the same laxity contributes to a raised rate of scoliosis and of slippage of one vertebra on another. The single most important idea is that the great majority of this instability is detected on imaging without ever causing symptoms, and that the small minority in whom the spinal cord is genuinely at risk is what spinal assessment is designed to identify.Read more Noonan SyndromeNoonan syndrome is a relatively common genetic condition that affects many body systems, and it carries a recognised tendency towards deformity and anomaly of the spine. It belongs to a family of disorders called the RASopathies, caused by changes in genes that control a single cell-signalling pathway, the RAS/MAPK pathway, which governs how cells grow and divide. Among its many features — short stature, characteristic facial appearance, congenital heart disease and a bleeding tendency — are a distinctive set of musculoskeletal findings. From the point of view of the spine, the most important of these are scoliosis, a sideways curvature of the spine; kyphosis, an exaggerated forward rounding; and a particular and unusual association with thoracic lordosis, a flattening or reversal of the normal rounding of the upper back. Chest-wall deformity, neck and cervical-spine anomalies, low bone density and a tendency to abnormal bleeding all sit alongside these spinal findings and shape how the spine is assessed and, where necessary, treated. This guide concentrates on the spine: what is known about how often these deformities occur, why they arise, how they behave, and what the published literature describes about their assessment and management.Read more Williams SyndromeWilliams syndrome, also called Williams-Beuren syndrome, is a rare genetic condition caused by the loss of a small piece of one copy of chromosome 7, at a location written as 7q11.23. The deleted segment contains around twenty-five to twenty-eight genes, and among them is the gene for elastin, the protein that gives connective tissue throughout the body its stretch and recoil. The condition is recognised by a distinctive combination of features: a characteristic facial appearance, narrowing of arteries (most often the large vessel leaving the heart), a particular learning profile with an unusually sociable manner, and a range of connective tissue and musculoskeletal differences. From the point of view of the spine, the relevant story is one of posture and curvature. In early childhood the body is typically floppy, with loose joints, and as the years pass the muscles and tendons tend to tighten, the heel cords and hamstrings shorten, and the spine commonly develops exaggerated curves: an increased forward curve of the lower back (lordosis), an increased rounding of the upper back (kyphosis), and, less often, a sideways curve (scoliosis). This page concentrates on the spinal aspects of Williams syndrome, set against the wider picture of the elastin deletion and the cardiovascular features that make any anaesthetic, including one for spinal surgery, a matter requiring particular care.Read more Prader-Willi SyndromePrader-Willi syndrome is a rare genetic condition caused by the loss of function of certain genes on the paternally inherited copy of chromosome 15. It affects many systems of the body, but from the point of view of the spine its single most important feature is a very high frequency of scoliosis, the sideways curvature and rotation of the spine. Up to four out of five people with Prader-Willi syndrome develop scoliosis at some point, a rate far above that of the general population. Several features of the syndrome combine to produce this: low muscle tone, or hypotonia, which deprives the growing spine of its muscular support; a tendency to early-onset obesity driven by an insatiable appetite, which both loads the spine and makes it harder to examine; reduced bone density; and the hormonal changes of growth and puberty. Curvature can appear in two distinct waves, one in infancy and one around adolescence, and kyphosis, an excessive forward rounding of the spine, is also common. This guide describes Prader-Willi syndrome as it relates to the spine, the reasoning behind close spinal monitoring, and what the published evidence shows about bracing, surgery, growth hormone therapy and the particular anaesthetic considerations that surround spinal operations in this group.Read more CHARGE SyndromeCHARGE syndrome is a rare genetic condition that arises before birth and affects many parts of the body at once. The name is an acronym coined in the late 1970s for a recognised cluster of features: Coloboma of the eye, Heart defects, Atresia of the choanae (a blockage at the back of the nose), Retardation of growth and development, Genital abnormalities and Ear anomalies with deafness. Most cases are caused by a change, or pathogenic variant, in a single gene called CHD7. From the point of view of the spine, CHARGE syndrome matters because scoliosis, a sideways curvature and rotation of the spine, is common as affected children grow older, and because some individuals also have congenital vertebral anomalies such as hemivertebrae present from birth. The spinal picture is shaped by a combination of low muscle tone, balance and vision difficulties, and, in a proportion of cases, the bony malformation of the vertebrae themselves. This guide concentrates on the spine and scoliosis within CHARGE syndrome, describing what the published literature reports rather than offering advice for any individual.Read more VACTERL AssociationVACTERL association is the non-random clustering of several congenital malformations that tend to occur together more often than chance would predict, traditionally defined by the presence of at least three of six core features: vertebral defects, anal atresia, cardiac anomalies, tracheo-oesophageal fistula with or without oesophageal atresia, renal malformations, and limb abnormalities. The acronym spells out these components: V for vertebral, A for anal, C for cardiac, TE for tracheo-oesophageal, R for renal and L for limb. From the standpoint of the spine, the letter that matters most is the first one. Vertebral anomalies are among the commonest and most defining features of the association, reported in a large majority of affected individuals, and it is these congenital differences in the building blocks of the spine — hemivertebrae, butterfly vertebrae, block or fused vertebrae, and failures of segmentation — that may, in some people, give rise to congenital scoliosis. This page concentrates on the spine: what the vertebral anomalies are, how they relate to curvature, why the spinal cord itself is examined alongside the bones, and what the literature describes about assessment and surgical management of congenital curves. It is a general educational account and not advice about any individual.Read more Goldenhar Syndrome (Oculo-Auriculo-Vertebral Spectrum)Goldenhar syndrome, more precisely known as the oculo-auriculo-vertebral spectrum (OAVS) and overlapping closely with hemifacial microsomia and craniofacial microsomia, is a congenital condition arising from disrupted development of the first and second pharyngeal (branchial) arches early in pregnancy. Its name draws together its three classic domains: the eye (oculo-), the ear (auriculo-) and the spine (vertebral). It is the third element, the vertebral component, that brings the condition into the orbit of spinal surgery. Although the facial and ear differences are usually the most visible features, a substantial proportion of those affected also carry anomalies of the spine, particularly of the cervical and upper thoracic vertebrae. These range from minor, symptomless variations of bone shape through to failures of vertebral formation and segmentation that can produce congenital scoliosis, fusion of the neck vertebrae, instability at the junction between the skull and the spine, and, occasionally, narrowing around the spinal cord. This page concentrates on that spinal dimension: what the vertebral anomalies are, how often they occur, how they are recognised, and what the published literature reports about their natural history and management.Read more Pierre Robin SequencePierre Robin sequence is a pattern of congenital features present at birth, made up of an unusually small lower jaw (micrognathia), a tongue that sits further back and lower than usual (glossoptosis), and obstruction of the upper airway, frequently accompanied by a cleft of the palate. It is called a sequence rather than a syndrome because one early event, underdevelopment of the lower jaw, is thought to set off the others in a chain: the small jaw crowds the tongue backwards, the displaced tongue can block the airway, and its position can interfere with closure of the palate. The features themselves lie in the face and airway rather than the spine, yet the subject earns a place on a spinal page for a specific reason. Pierre Robin sequence is often the visible tip of an underlying syndrome, and several of those syndromes carry their own consequences for the spine, ranging from scoliosis and Scheuermann-like changes to vertebral malformations and, in a minority, instability at the top of the neck. The airway difficulty that defines the sequence also bears directly on any anaesthetic, including anaesthesia for spinal surgery. This page concentrates on those spinal and syndromic threads rather than on the facial and feeding aspects that dominate infancy.Read more Rett SyndromeRett syndrome is a rare neurodevelopmental disorder that almost exclusively affects girls and is, in the great majority of cases, caused by a mutation in a single gene on the X chromosome called *MECP2*. After an apparently normal first six to eighteen months of life, development slows and then regresses: purposeful hand use and spoken language are lost, characteristic repetitive hand movements appear, and walking becomes unsteady or is lost altogether. From the point of view of the spine, the dominant feature of Rett syndrome is scoliosis. Scoliosis is so common in this condition that it is regarded as a near-defining feature, reported in the region of half to four-fifths of affected individuals and in some cohorts approaching almost all of them by adolescence. The curve is of the neuromuscular type, typically a long, sweeping, C-shaped thoracolumbar curvature that tends to appear earlier and progress faster than the scoliosis seen in otherwise healthy adolescents. This page concentrates on the spine: why scoliosis develops in Rett syndrome, how it behaves, what the published consensus guidelines describe, and what the evidence shows about bracing, surgery, bone health and anaesthesia.Read more Neurofibromatosis Type 1 (NF1)Neurofibromatosis type 1, often abbreviated to NF1 and historically called von Recklinghausen disease, is a common inherited condition caused by a fault in a single gene on chromosome 17. It affects roughly one person in every three thousand and influences many tissues of the body, but from the point of view of the spine its importance lies in scoliosis: a sideways curvature, often combined with rotation and forward bending, that is the most frequent skeletal manifestation of the condition. The single most useful idea in this whole subject is the division of NF1 scoliosis into two forms. One, the non-dystrophic type, behaves much like ordinary adolescent scoliosis. The other, the dystrophic type, is a short, sharp, sharply angulated curve associated with changes in the bone itself, such as scalloping of the vertebrae and thinning of the ribs, and it has a reputation for progressing rapidly and resisting straightforward treatment. Understanding the difference between these two patterns, and the way one can quietly change into the other over time, sits at the heart of how the spine is thought about in NF1.Read more Neurofibromatosis Type 2 (NF2)Neurofibromatosis type 2, now more precisely termed NF2-related schwannomatosis, is an inherited tumour-predisposition condition caused by loss of a single tumour-suppressor gene on chromosome 22. Its best-known feature is a schwannoma on each hearing and balance nerve, but the spine is involved in a high proportion of those affected, and it is the spinal aspect that this page concentrates on. The same biology that drives the nerve tumours in the head also gives rise to tumours in and around the spinal canal: schwannomas growing from the spinal nerve roots, meningiomas growing from the lining of the spinal cord, and ependymomas growing within the substance of the cord itself. These tumours are almost always benign and slow-growing, and many never cause symptoms at all. When they do, it is by pressing on the spinal cord or its nerve roots, and occasionally by contributing to a curvature of the spine. The central themes of this guide are that NF2 spinal tumours are common but frequently silent, that they are watched far more often than they are operated upon, and that decisions rest on growth and symptoms rather than on the mere presence of a tumour on a scan.Read more Mucopolysaccharidosis (MPS) and the SpineMucopolysaccharidosis (MPS) is the name for a group of rare, inherited metabolic disorders in which the body lacks one of the enzymes needed to break down large sugar molecules called glycosaminoglycans (GAGs). The several subtypes — including MPS I (Hurler), MPS II (Hunter), MPS IV (Morquio) and MPS VI (Maroteaux-Lamy) — share a characteristic effect on the skeleton known as dysostosis multiplex. Two themes recur in the spine: a flexible thoracolumbar kyphosis or gibbus in childhood, most prominent in Hurler MPS I, and a far more serious instability and narrowing at the top of the neck, most prominent in Morquio MPS IV, where an underdeveloped odontoid peg and thickened soft tissue can press on the spinal cord.Read more

Craniovertebral Junction

Chiari MalformationA Chiari I malformation is a structural finding in which the lowest part of the cerebellum — the cerebellar tonsils — sits below the natural opening at the base of the skull. Although it is often described as a brain finding, its greatest significance for a spinal surgeon lies inRead more Basilar InvaginationBasilar invagination is a condition of the craniovertebral junction — the join between the skull and the top of the spine — in which the upper cervical spine, and in particular the odontoid peg of the second neck bone, sits higher than normal and projects upwards into the openingRead more

Spinal Cord Disorders

SyringomyeliaSyringomyelia is a long-term, slowly developing condition in which a fluid-filled cavity, called a syrinx, forms within the substance of the spinal cord and may gradually enlarge. It is almost always a secondary phenomenon — a downstream consequence of a disturbance in the flow oRead more HydromyeliaHydromyelia describes a widening of the central canal, the tiny fluid-filled channel that runs down the middle of the spinal cord. Because this channel is lined by a delicate cell layer called ependyma, hydromyelia is, in its purest form, a developmental variant rather than a disRead more Tethered Cord SyndromeTethered cord syndrome is a clinical condition in which the lower end of the spinal cord is abnormally anchored within the spinal canal, so that normal movement and growth place it under sustained stretch and progressively impair its function. It is defined by a pattern of slowlyRead more DiastematomyeliaDiastematomyelia, now more correctly termed split cord malformation, is a rare condition present from birth in which the spinal cord is divided lengthways into two halves over part of its length. The dividing structure is a bony spur or a fibrous band that runs in the cleft betweRead more

Infection

Discitis (Spondylodiscitis)Discitis is an infection of one of the cushioning discs of the spine. In adults it usually involves the neighbouring vertebral bone as well, and the combined problem is called spondylodiscitis. This guide explains why it happens, why the main symptom is often severe, unrelenting back pain, how it is diagnosed, and how it is treated — usually with a prolonged course of antibiotics.Read more Vertebral Osteomyelitis (Spondylodiscitis)Vertebral osteomyelitis is an infection of one of the bones of the spine. It usually involves the neighbouring disc as well, so it is often called spondylodiscitis. This guide explains how the infection reaches the spine, why the main symptom is persistent back pain, how it is diagnosed, and how it is treated — usually with a prolonged, targeted course of antibiotics.Read more Pott Disease (Spinal Tuberculosis)Pott disease is tuberculosis of the spine — the most common form of tuberculosis affecting the bones and joints. It typically destroys the front of the vertebrae slowly over months, and can cause back pain, a visible angular deformity, and, if untreated, pressure on the spinal cord. This guide explains how it develops, how it is diagnosed, and how it is treated with a long course of anti-tuberculosis medication, sometimes with surgery.Read more

Tumours

Benign Notochordal Cell Tumour (BNCT)A benign notochordal cell tumour (BNCT) is a small, harmless growth of leftover notochordal cells sitting entirely within bone of the spine or skull base. The overwhelming majority are incidental findings, cause no symptoms, and need only recognition and watching. Their main significance lies in being distinguished from their rare malignant relative, chordoma, on imaging.Read more Primary Bone Tumours of the SpinePrimary bone tumours of the spine are growths that begin within the bone of the spinal column itself, as distinct from secondary tumours that have spread to the spine from a cancer elsewhere. They range from benign lesions such as osteoid osteoma, osteoblastoma, aneurysmal bone cyst, giant cell tumour and osteochondroma to the primary bone cancers — chordoma, chondrosarcoma, osteosarcoma and Ewing sarcoma. Recognising the possibility and arranging onward referral to a specialist bone-tumour and spinal-oncology team, before any biopsy is taken, shapes everything that follows.Read more Intradural Spinal TumoursIntradural spinal tumours are growths that arise inside the dura, the membrane that wraps the spinal cord and nerve roots. They are uncommon, and the great majority are benign and slow-growing. They are divided into intradural-extramedullary tumours (meningiomas, schwannomas, neurofibromas and the myxopapillary ependymoma of the filum) and the rarer intramedullary tumours (ependymomas, astrocytomas and haemangioblastomas).Read more Intradural Extramedullary TumoursAn in-depth, evidence-based guide to intradural extramedullary spinal tumours — growths inside the spinal covering but outside the cord itself — and how they are recognised, imaged and referred for specialist care.Read more Intramedullary Spinal Cord TumoursAn in-depth, evidence-based guide to intramedullary spinal cord tumours — growths that arise within the substance of the spinal cord itself — and how they are recognised, imaged and referred for specialist care.Read more Spinal SchwannomaAn in-depth, evidence-based guide to spinal schwannomas — usually benign nerve-sheath tumours of the spine — and how they are recognised, imaged and referred for specialist care.Read more SchwannomaAn in-depth, evidence-based guide to schwannomas — usually benign tumours arising from the protective sheath of a nerve — and how they are recognised, imaged and referred for specialist care.Read more MeningiomaAn in-depth, evidence-based guide to spinal meningiomas — usually benign tumours of the covering of the spinal cord — and how they are recognised, imaged and referred for specialist care.Read more EpendymomaAn in-depth, evidence-based guide to spinal ependymomas — tumours arising from the lining cells of the spinal cord and its central canal — and how they are recognised, imaged and referred for specialist care.Read more Spinal Metastases & Metastatic Spinal Cord Compression (MSCC)Spinal metastases are deposits of cancer that have spread to the bones of the spine from a primary tumour elsewhere. The spine is the commonest skeletal site for cancer to settle. The most serious development is metastatic spinal cord compression (MSCC), recognised as an oncological emergency. Management is led by specialist oncology and spinal multidisciplinary teams.Read more Metastatic Spinal TumourMetastatic Spinal Tumour — patient information page. Detailed content is being prepared. Please contact the practice for advice in the meantime.Read more

Peripheral Nerve Conditions

Common Peroneal Nerve EntrapmentThe common peroneal nerve runs close to the surface just below the outer side of the knee, where it is easily compressed. When it is, the result can be weakness lifting the foot — a "foot drop" — and numbness over the top of the foot and the outer shin. This guide explains why it happens, how it is diagnosed, and how it is treated.Read more Carpal Tunnel SyndromeCarpal tunnel syndrome is the most common nerve compression problem, caused by pressure on the median nerve as it passes through a narrow tunnel at the wrist. It typically causes tingling and numbness in the thumb, index and middle fingers, often worst at night. This guide explains why it happens, how it is diagnosed, and the options from wrist splints and injections to a straightforward operation to release the pressure.Read more Cubital Tunnel SyndromeCubital tunnel syndrome is caused by pressure on the ulnar nerve — the "funny bone" nerve — as it passes behind the elbow. It typically causes numbness and tingling in the little and ring fingers, and, if it progresses, weakness and clumsiness of the hand. This guide explains why it happens, how it is diagnosed, and the options from simple measures to surgery to relieve the pressure.Read more Meralgia ParestheticaMeralgia paresthetica is a burning, tingling or numb patch on the outer thigh, caused by compression of a purely sensory nerve as it passes under the ligament at the front of the hip. Because the nerve carries only sensation, it does not cause weakness. This guide explains why it happens — often linked to tight clothing, weight or pregnancy — and how it is diagnosed and treated, usually without surgery.Read more

Sacroiliac & Pelvis

SI Joint DysfunctionPain arising from the sacroiliac joint, often felt in the buttock or upper leg.Read more SacroiliitisSacroiliitis is inflammation of one or both sacroiliac joints, where the base of the spine meets the pelvis. It typically causes pain in the buttock and lower back. It has several causes — most importantly a group of inflammatory conditions called axial spondyloarthritis, but also wear-and-tear, pregnancy and, rarely, infection. This guide explains how it is recognised, diagnosed, and treated according to its cause.Read more Coccygeal FractureA coccygeal fracture is a break of the coccyx, or tailbone — the small, triangular bone at the very bottom of the spine. It is usually caused by a fall onto the buttocks and causes pain at the base of the spine, especially when sitting. This guide explains how it happens, how it is diagnosed, and why the great majority heal with simple, non-surgical care.Read more CoccydyniaPain at the tailbone, typically worse on sitting.Read more

Legacy Spinal Technologies

Lumbar Disc ReplacementAn honest, evidence-based overview of artificial disc replacement in the lower back — a motion-preserving alternative to fusion whose long-term value remains genuinely debated. I do not perform lumbar disc replacement; this page is written to help patients understand the technology and the arguments around it.Read more Dynamic Stabilisation SystemsAn honest overview of posterior "dynamic" stabilisation devices, such as Dynesys, that aim to steady the spine without a full fusion — and why the evidence for them remains weak and contested. I do not use these systems; this page explains the concept and the debate.Read more Interspinous DevicesAn honest overview of interspinous "spacer" implants (such as X-STOP and Coflex) used for lumbar stenosis — and why independent evidence points to high reoperation rates and limited benefit. I do not implant these devices; this page explains the concept and the evidence.Read more Harrington RodsA historical overview of the first widely used spinal instrumentation for scoliosis, its lasting influence, and the long-term problems — such as flatback deformity — that led to its replacement. This is a technique of the past; I do not use it, and this page is written for patients who have, or once had, Harrington instrumentation.Read more Luque InstrumentationA historical overview of Luque segmental sublaminar wiring for spinal deformity — its role in neuromuscular scoliosis, the neurological risk that came with passing wires under the laminae, and why it has largely been replaced. I do not use this technique; this page is for context.Read more Cotrel-Dubousset InstrumentationA historical overview of the Cotrel-Dubousset system, which introduced three-dimensional derotation correction of scoliosis and became the foundation of every modern deformity system. I do not use the original CD system; this page explains its lasting influence and the evidence.Read more Zielke InstrumentationA historical overview of Zielke ventral derotation spondylodesis — an anterior technique for thoracolumbar and lumbar scoliosis — and the single-rod limitations that led to its refinement and replacement. I do not use this technique; this page is for context.Read more MAGEC RodsA detailed, evidence-based overview of magnetically controlled growing rods for early-onset scoliosis — including the MHRA regulatory history, the metallosis and device-failure concerns, and current thinking on retained rods and removal. I do not implant these devices; this page is written to help patients and families understand a technology about which the evidence is genuinely contentious.Read more Luqué TrolleyA historical overview of the Luque trolley — an early "growth-friendly" idea intended to let the spine keep growing along sliding rods — and the autofusion problem that limited it. I do not use this technique; this page explains the concept, its failure mode, and its modern re-examination.Read more Shilla Growth Guidance SystemAn honest overview of the Shilla technique for early-onset scoliosis — a "guided growth" system that corrects the curve apex and lets the ends grow along sliding screws — and the contested evidence about how much growth it really allows. I do not use this system; this page explains the concept and the debate.Read more VEPTRA historical and evidence-based overview of the VEPTR device for thoracic insufficiency syndrome and complex early-onset chest and spine deformity — a technique whose use has substantially declined as magnetic growing rods and other methods have taken over. I do not use VEPTR; this page explains what it was and why its role has faded.Read more