SPINAL DEFORMITY

The Spine May Change Visibly Due to a Mild to Severe Deformity

Due to the fact that doctors can identify a spinal deformity solely through visual examination, doctors start with a physical examination.  Because the condition can easily be seen, the doctor can make a very quick diagnosis.  But the individual with the deformity may also feel alienated through this prominence. An extremely difficult component of the illness for teens or young adults who may have a spinal deformity is the psychological impact of such a condition.

Identifying a Spinal Deformity

A doctor will conduct a physical examination and request spine X-rays to determine the existence of a spinal abnormality. The patient will often shift into a few postures during an examination, such as a forward bend, so the doctor can see the spine as it moves. The doctor may suggest imaging, such as magnetic resonance imaging (MRI) or computed tomography (CT) scans, to examine the internal anatomy of the spine and surrounding region in order to determine if an underlying reason exists for the curvature.

Spinal Deformity Complications

Kyphosis can result in back discomfort as well as:

• Kyphosis refers to weakness of the back muscles and difficulty with tasks such as walking or getting up from a chair. A crooked spine can make it difficult to look up or drive, and can even cause pain when lying down.
• Severe kyphosis can compress the digestive tract and cause problems such as heartburn and difficulty swallowing.

Spinal Deformity Body Image Problems

Kyphosis patients, particularly teenagers, may struggle with body image issues as a result of their rounded backs.

Causes

A healthy spine consists of bones called vertebrae, which resemble cylindrical columns when placed one over the other. Back vertebrae develop a more wedge-like form, which refers to kyphosis. Vertebrae can alter in shape due to:

Fractures

When vertebrae are fractured, the spine may curve. Compression fractures, which can occur when a bone is weak, are the most common kind of fractures. Mild compression fractures typically lack any noticeable symptoms or warning signs.

Osteoporosis

Spinal curvature can result from weak bones, particularly if fragile vertebrae have compression fractures. Osteoporosis is more likely to occur in older women and those who have taken corticosteroids for an extended period.

Disk degeneration

Soft, spherical discs serve as spacers between the spinal vertebrae. As we become older, these discs flatten and shrink, which typically exacerbates kyphosis.

Scheuermann’s disease

This condition, which is also known as Scheuermann’s kyphosis, often starts during the growth spurt before puberty.

Other problems

The spine’s bones not forming properly before birth might lead to kyphosis. Kyphosis in children can coexist with other medical conditions like Ehlers-Danlos syndrome.

Spinal Deformity Treatment Options

The degree of the spine’s curvature, how it affects the patient’s daily functioning, their age, and other medical issues are all taken into consideration when recommending a course of treatment. Cosmetic appearance is a justification for surgery in a relatively small percentage of younger patients. The therapy should, in general, meet the severity of the symptoms to stop, slow down, or reverse the condition.

Bracing of Spinal Deformity

Bracing is the first option for younger individuals with milder types of spinal abnormalities.  The brace is used to straighten the spine and prevent further progression. A brace may provide some pain relief for children who are still growing.

Physical Therapy

The flexibility and strengthening of the spine’s core are a cornerstone of treatment, and physiotherapy can help with these aspects (PT). There are several appropriate types of physical therapy, but they all include the patient engaging in activity to strengthen the spinal musculature, increase the range of motion, and enhance balance. It should involve active steps rather than only passive ones, such as massage, heat, or ice.

Surgical Treatment

The usual patient should have attempted non-operative management of their symptoms before considering surgery. Patients with medically untreatable pain or neurologic problems, including numbness, weakness, or bowel or bladder dysfunction, should think about having surgery. Surgery is frequently required due to the curvature progressively getting worse, which is why patients are monitored with yearly X-rays. Despite all non-operative therapy attempts, severe curves always seem to get worse; like a tree falling, once it starts, it’s impossible to stop without intervention.

Spinal Fusion Surgery      

Most commonly used in conditions such as scoliosis and kyphosis, physicians use rods, plates, and screws to mechanically connect one or more vertebrae to straighten collapsed spinal structures. This process straightens the curves associated with scoliosis.

Decompression Procedures for a Spinal Deformity      

Making room in a compressed spine due to spinal deformity is a task of decompression surgery. Your doctor will remove any structures that are compressing the spine during this treatment using a number of techniques, such as laminectomy or foraminotomy.

Osteotomy (surgery)

The act of removing bone structures is known as an osteotomy. To adjust the angle at which bones lie together, this may include the removal of a vertebra entirely or simply a portion of it. Treatment for flatback or scoliosis frequently involves this operation.

Spinal Deformity Types that are Less Frequent

Other prominent but less frequent causes of spinal malformation include:

Scheuermann’s Disease

This condition occurs in children and adolescents. Similar to kyphosis, this condition causes an exaggerated hump in the thoracic spine. However, in this disease, the cause relates to the failure of the spine’s growth. This condition can cause significant pain and disability.

Postsurgical Deformity

Spinal surgery can also cause various deformities. Postoperative deformity typically occurs when spinal fusion surgery fails to fuse the target bones fully or when the spine does not heal properly after surgery. A failed surgery can result in further curvature of the spine and associated pain and stiffness at the surgical site.

Spondyloepiphyseal Dysplasia (SED)

Spondyloepiphyseal dysplasia, often called SED, is a rare group of genetic disorders affecting both the spine and the ends of the long bones near the joints. The name itself comes from Greek: “spondylo” means spine, and “epiphyseal” refers to the growth areas at the ends of bones.

Children with SED can experience abnormal growth and development of the vertebrae and joints, leading to short stature and changes in the shape of the spine. There are several types of SED, with SED congenita being one of the more commonly recognized forms. This condition is typically present from birth, and its severity can vary widely from child to child.

Most notably, SED may result in curvature of the spine, limited joint mobility, and early onset of joint pain. Ongoing monitoring and specialized care are essential for managing symptoms and supporting healthy development.

Further Information on Spondyloepiphyseal Dysplasia (SED), a Spinal Deformity

Comprehensive care for individuals with SED involves collaboration among several healthcare specialists. Routine evaluations by an orthopedic specialist are essential to monitor bone and joint development. Additionally, geneticists help identify the specific type of SED and guide family counseling. Pediatricians oversee overall health and coordinate care, while physical therapists design rehabilitation programs to improve mobility and function.

Dentists play a role in addressing possible dental issues related to skeletal development. Neurologists may be involved if neurological symptoms or concerns arise. Working as a unified team, these professionals develop an integrated treatment strategy aimed at managing the diverse challenges associated with SED and supporting optimal health at every stage.

Symptoms in People with SED?

For children diagnosed with Spondyloepiphyseal Dysplasia (SED), attentive monitoring goes a long way in catching potential issues early and supporting their well-being. Parents and caregivers should be on the lookout for a range of physical and neurological changes:

• Gait and Mobility Changes: If you notice your child’s walking pattern looks different, or if they tire easily, report reduced endurance, or complain of muscle soreness, these could signal underlying orthopedic concerns that need evaluation.
• Sensation Changes: Pay attention to any complaints of tingling, numbness in the arms or legs, or changes in sensation. More urgently, any issues with bladder or bowel control may point to spinal cord involvement and should prompt immediate medical attention.
• Spinal Symmetry and Posture: Watch for new or worsening unevenness in the shoulders, hips, or ribcage, especially if one side becomes noticeably more prominent, or the trunk appears asymmetrical when bending forward. These might indicate a developing curvature of the spine.
• Joint Issues: Knock-knees can progress over time and are best assessed with X-rays. If noticed, bring these to your doctor’s attention so proper tracking and imaging can be arranged.
• Foot Concerns: Flat feet might cause pain, trouble with shoes, or calluses. Persistent discomfort or problems with footwear should be mentioned at routine appointments.
• Breathing Concerns: If there are any signs of disturbed breathing during sleep (such as pauses in breathing or unusual snoring), share these observations with your doctor. Sometimes,

Ongoing, regular check-ups, both clinical assessments and X-rays, are key to staying ahead of potential complications in SED. If you spot any of the signs listed above, don’t hesitate to discuss them with your child’s orthopedic specialist. Early response makes a difference in achieving the best possible outcomes.

How Is Spondyloepiphyseal Dysplasia Diagnosed?

Diagnosing spondyloepiphyseal dysplasia (SED) involves a combination of clinical evaluation and specialized imaging tests. Doctors typically start with a detailed physical exam, looking for characteristic skeletal features such as short stature, spine curvature, or joint abnormalities. X-rays are especially helpful, often revealing distinctive changes, such as a unique double-convex shape of the vertebral bodies and delayed bone development in areas like the pelvis and the ends of long bones, particularly the hips.

In some cases, SED can even be suspected before birth through prenatal ultrasound, which may show abnormal development of bones and joints. For families seeking a definitive diagnosis, genetic testing is also available. While the test is intricate, given the size and complexity of the gene involved, identifying certain gene mutations can confirm the specific type of SED and guide the treatment plan.

Working with a multidisciplinary team ensures thorough evaluation and accurate diagnosis, paving the way for tailored management as children grow.

Characteristic Radiographic Features of Spondyloepiphyseal Dysplasia (SED)

SED is typically identified based on a combination of clinical examination and imaging studies, with X-rays playing a crucial role. On lateral spine radiographs, doctors often notice the vertebral bodies appear biconvex—almost lens-shaped—rather than the usual rectangular outline. Another hallmark sign is a significant delay, often several years, in the normal development (ossification) of certain bones. This delayed ossification especially affects the iliopubic ramus in the pelvis and the ends (epiphyses) of long bones, most notably the femoral heads in the hips. These unique findings on X-rays help distinguish SED from other spinal conditions.

What Kind of Regular Assessments and Monitoring are Recommended for Individuals With SED?

For children diagnosed with Spondyloepiphyseal Dysplasia (SED), ongoing evaluation is a critical part of care. Regular visits with a pediatric orthopedic specialist—especially one experienced in skeletal dysplasias—are necessary to monitor growth and development closely. Typically, these check-ups should occur every six months. In certain cases, more frequent visits may be suggested if there’s a concern about any changes or complications.

During these assessments, both clinical examinations and imaging studies, like X-rays, are important. X-rays help track changes in bone alignment, identify the progression of knock-knees, and monitor any curvature of the spine. Parents and caregivers should watch for new or worsening symptoms, such as changes in the way their child walks, increased fatigue, reduced stamina, muscle discomfort, or numbness in the limbs. Symptoms like tingling, loss of sensation, changes in bladder or bowel habits, or trouble with balance may signal issues with the spinal cord and require prompt medical attention.

Changes in posture, such as uneven shoulders, a shift in trunk alignment, or a protruding hip or rib when bending forward, should also be reported to your doctor. If flat feet are causing pain or skin problems, these need to be evaluated as well, as footwear adjustments or other interventions may help.

Additional complications

Additionally, some children with SED may be at risk of breathing problems, particularly if there’s spinal involvement at the neck. If sleep disturbances or signs of central apnea are noticed, consultation with a pediatric pulmonologist for sleep studies may be advised.

Because SED can influence many aspects of a child’s health, a multidisciplinary approach often leads to the best outcomes. This team may include an orthopedist, pediatrician, dentist, geneticist, neurologist, pulmonologist, and physical therapist, all working together to support the child’s growth, mobility, and well-being.

Schedule an Appointment for your child to be seen by one of the doctors at the Medical City Children’s Orthopedic and Spine Specialists for a spinal deformity.

How SED Affects the Joints and Potential Long-Term Concerns

Children with Spondyloepiphyseal Dysplasia (SED) often experience joint problems due to how the condition disrupts the development of bone near the joints. Because the cartilage covering these joints relies heavily on type II collagen—the same protein affected in SED—these children are at greater risk for early joint wear and tear.

As a result, premature osteoarthritis is common, especially in weight-bearing joints such as the hips and knees. Symptoms might include stiffness, pain, or decreased range of motion as children grow older. In some cases, ongoing discomfort or limitation can make daily activities more challenging.

For some individuals, joint issues may progress to the point that surgical solutions, such as hip or knee replacement, are considered, sometimes at a younger age than would typically be expected. However, because SED may also cause joint contractures and unique bone shapes, these surgeries can be more complex.

Managing joint health in SED often involves regular monitoring, physical therapy to preserve mobility, and, when necessary, orthopedic consultations to plan for the future. Early attention can help minimize discomfort and support an active lifestyle as much as possible.

Musculoskeletal Problems Linked to SED

Children with Spondyloepiphyseal Dysplasia (SED) often experience a variety of musculoskeletal issues that impact the spine, neck, hips, legs, feet, and joints. Early recognition and intervention can greatly improve the management and quality of life for children affected by this condition.

Neck and Spine Concerns

The neck is one area that often requires careful monitoring. Instability in the upper spine (atlantoaxial instability) can lead to spinal cord compression, resulting in symptoms such as difficulty standing or balancing, muscle weakness in the arms and legs, and, in more serious cases, episodes of sudden paralysis. Prompt imaging and evaluation are important, as surgical stabilization may be needed to prevent further spinal cord problems.

Kyphoscoliosis, a combination of outward and sideward spinal curves, is common in SED, especially in the thoracolumbar region. More than half of children with SED develop some degree of curvature. Mild curves may respond to bracing, particularly if started early, but progressive curves might require surgical correction. Additionally, an exaggerated curve in the lower back (lumbosacral lordosis) often appears, sometimes noticeably affecting posture and balance. While bracing is a treatment option, it may be difficult for young children to tolerate.

Lower Limb Issues

Hip problems, especially a condition known as coxa vara, are hallmark features of SED. This occurs when the angle between the head and shaft of the femur decreases, causing the hip to become misaligned. As a result, children may experience difficulty walking, muscle weakness, or hip contractures. Surgery to realign the hips may be considered if symptoms are significant or if the deformity is severe. Knock knees (genu valgus) are also more common than bow legs (genu varus) in SED.

Foot and Joint Involvement

While clubfoot is sometimes mentioned in connection with SED, flatfeet (planovalgus feet) are seen more often in these children. Because SED affects the portions of bone near the joints, joint instability and early-onset osteoarthritis are frequent challenges. Stiffness, reduced range of motion, and joint discomfort may develop, sometimes requiring joint replacement procedures in adulthood. These surgeries can be complicated due to the underlying bone changes and are usually considered on a case-by-case basis.

Families should work closely with their care team to monitor for the development of these musculoskeletal problems and to discuss the best strategies for early intervention and long-term support for their child.

Impact of SED on the Lower Limbs: Hips and Knees

In children with Spondyloepiphyseal Dysplasia (SED), the lower limbs are often affected, particularly the hips and knees. A common hip issue is coxa vara, where the angle between the femoral neck and shaft becomes narrower than usual. This change is due to abnormal cartilage development, causing the femoral head to gradually tilt downward. When this alignment shifts, the muscles that stabilize the hip, especially the abductors, end up working less efficiently, sometimes leading to hip contractures and difficulty walking.

This altered angle may also increase the likelihood of hip instability or pain over time. In some situations, especially if children experience symptoms or if the angle drops below a certain threshold, doctors may recommend surgery to correct the alignment and help restore stability and mobility.

For the knees, genu valgus, commonly known as “knock-knees”, tends to occur more frequently than genu varus (“bowlegs”). This condition can influence a child’s gait and may contribute to discomfort or fatigue with activity. Early recognition and regular monitoring allow the healthcare team to suggest treatments, ranging from physical therapy to surgical intervention, aimed at improving function and supporting healthy growth.

Neck-Related Complications in Spondyloepiphyseal Dysplasia (SED)

Children with spondyloepiphyseal dysplasia (SED) may experience unique issues affecting the neck. One notable concern is the abnormal development of the upper cervical vertebrae, particularly the odontoid bone, which can result in cervical instability. When this instability is present, it may put pressure on the spinal cord, a problem known as atlantoaxial instability.

Symptoms associated with this condition can appear very early, sometimes even in infancy. These can range from difficulties with breathing and motor weakness in both the arms and legs to trouble standing. In severe cases, paralysis of all four limbs (quadriplegia) can occur if the spinal cord becomes compressed.

Diagnosing these complications typically involves specialized imaging, such as neck X-rays and MRI scans.  These scans will assess the bones and the alignment of the cervical spine. If cervical myelopathy is detected, surgical intervention may be necessary to stabilize the spine and prevent further neurological damage. Early detection and close monitoring by a pediatric orthopedic specialist are essential to ensure the best outcomes for children with SED.

Understanding Spinal Deformities in SED

A common feature of Spondyloepiphyseal Dysplasia (SED) is kyphoscoliosis—an abnormal curvature of the thoracolumbar spine—present in over half of SED patients. Early detection is essential, and we use regular scheduled physical examinations alongside advanced X-ray imaging to monitor even subtle changes. For smaller curvatures, bracing may be attempted, though its success rate varies. Research suggests that bracing can be particularly effective for kyphosis if worn until skeletal maturity, but it’s important to note the practical challenges, as young children, especially those around 4 or 5 years old, often find these braces cumbersome and difficult to tolerate.

Another spinal concern frequently seen in children with SED is exaggerated lumbosacral lordosis, which can cause an imbalance of the spine in the sagittal plane. This lordosis is typically due to changes in the vertebral bodies, such as abnormally long pedicles and a notably reduced vertical height of the posterior arches. Early intervention, often with bracing, can be helpful in managing these issues, although comfort and compliance remain important considerations.

Our multidisciplinary team is dedicated to evaluating and managing each facet of spinal deformity to include children with SED, ensuring that every child receives a plan uniquely suited to their condition and comfort.

We have offices in Dallas, Arlington, Flower Mound, Frisco, and McKinney, TX.

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Footnote:

National Institute of Health: Spinal Deformity