Category: Pediatrics

Congenital vertical talus (CVT) is a rare, complex congenital foot deformity in which the normal alignment and structure of the foot are profoundly disrupted, resulting in a rigid “rocker-bottom” flatfoot. This condition poses both diagnostic and therapeutic challenges, drawing the attention of orthopedic surgeons, pediatricians, and geneticists.

Defining Congenital Vertical Talus

Congenital vertical talus is defined by a fixed dorsal dislocation of the navicular bone on the talus, causing the talus to assume a vertical orientation within the foot. The calcaneus is typically in equinus, and the forefoot is abducted and dorsiflexed. This combination of deformities creates a visible convexity of the sole (hence “rocker-bottom foot”) and obliterates the normal arch. CVT is distinguished from the more common flexible flatfoot and from positional foot deformities by its rigidity and the vertical appearance of the talus on radiographs.

Epidemiology and Incidence

CVT occurs in approximately one out of every 100,000 to 150,000 live births, making it a rare condition. About half of the cases are bilateral. The incidence does not show clear sex predilection, and while it can appear in isolation, it is frequently associated with neuromuscular disorders or genetic syndromes, such as arthrogryposis, spina bifida, or trisomy syndromes

Etiology and Pathogenesis

The precise cause of congenital vertical talus remains poorly understood. About half of cases are associated with underlying neuromuscular or genetic syndromes, while the remainder were termed idiopathic, although increasing evidence shows a genetic basis even in these. Mutations in the HOXD10 gene and other genetic loci have been implicated, demonstrating an autosomal dominant inheritance with variable expressivity in some families.

Proposed pathophysiological mechanisms include:

• Abnormal muscular or neuromuscular influences during fetal development, such as muscle imbalance or abnormal intrauterine positioning.
• Abnormal development or displacement of the talonavicular joint in utero, sometimes related to connective tissue disorders or chromosomal aberrations.
• Congenital contractures of foot musculature (e.g., tightness of the tibialis anterior, peroneals, or Achilles tendon).

Clinical Features

The most distinctive physical finding in congenital vertical talus is a rigid, convex plantar surface of the foot with the hindfoot in fixed equinus and valgus, the midfoot and forefoot dorsiflexed and abducted relative to the hindfoot. Other features include:

• Prominent talar head on the plantar aspect, sometimes forming a callus.
• Crease on the dorsum of the foot and convexity of the sole.
• Stiffness, inability to plantigrade the foot even with manipulation.
• In older children, difficulty fitting into shoes and an abnormal “peg-leg” gait.
• Associated anomalies such as limb contractures or spinal dysraphism (when syndromic).

Diagnosis

Early and accurate diagnosis is essential to prevent disability. Diagnosis relies on clinical examination and radiography:

• Clinical: The foot is in equinus and valgus, with the forefoot abducted and dorsiflexed, sole convex, and normal plantar arch reversed.

Differential Diagnosis

Congenital vertical talus must be differentiated from:

• Flexible flatfoot (physiologic, resolves with growth).
• Oblique talus (features overlap but with residual movement and partial reducibility).
• Clubfoot (talipes equinovarus: foot is inverted and adducted rather than abducted and everted).
• Metatarsus adductus and cavus foot (distinct orientation and mobility).

Pathoanatomy

Surgically and in postmortem studies, the talonavicular joint is found irreducibly dislocated dorsally, with the talus in a vertical sagittal plane. The calcaneus is in equinus, and the navicular becomes hypoplastic from abnormal articulation. There are varying degrees of contractures in the anterior tibial, peroneal, and extensor tendons. The rigidity of the deformity relates to contractures and abnormal development of both bone and soft tissues.

Associated Conditions

Fifty percent of cases are associated with other disorders:

• Arthrogryposis multiplex congenita.
• Spina bifida and other neural tube defects.
• Cerebral palsy.
• Trisomy 13, 15, 18.
• Other genetic syndromes and familial cases, often linked to specific gene mutations.

Treatment Approaches

The primary goal of treatment is a flexible, plantigrade, and pain-free foot that enables normal gait. Early treatment is critical as untreated congenital vertical talus leads to pain, calluses, impaired function, and disability.

Nonsurgical Management

• Serial stretching and casting: Early casting is used to gradually stretch the contracted tissues and restore alignment. The “reverse Ponseti” method (similar to clubfoot treatment) is commonly employed, aiming to stretch the foot into plantarflexion and adduction.
• Physical therapy: Adjunctive stretching may help maintain correction.

Surgical Management

Surgery is considered if casting fails or if the deformity is detected late.

• Minimally invasive approaches: Percutaneous Achilles tenotomy, open reduction of the talonavicular joint, with pin fixation and soft tissue releases, now offer high rates of correction with less morbidity.
• Extensive surgical soft tissue release: Previously common but now largely supplanted by minimal procedures due to complications like stiffness, wound problems, and under/overcorrection.

Postoperative care includes immobilization in a cast and subsequent use of braces or orthotic footwear to maintain correction.

Prognosis

With early and appropriate intervention, the long-term prognosis is generally favorable; most children achieve a pain-free, plantigrade, and functional foot. Delayed diagnosis or suboptimal treatment may result in persistent deformity, pain, mobility limitations, and permanent disability.

Advances and Future Directions

Contemporary management continues to evolve, prioritizing less invasive techniques and earlier interventions. Genetic research is expanding, with identification of at-risk families and syndromic patterns facilitating early recognition.

Congenital vertical talus is a rare, often challenging foot deformity present at birth, necessitating early and accurate diagnosis for best outcomes. Advances in both genetic understanding and treatment paradigms have enabled more effective, less morbid interventions. Recognizing associations with other disorders is vital, as congenital vertical talus may herald broader systemic pathology. Future research will likely yield further insights into both pathogenesis and optimal, patient-friendly therapies.

Clubfoot, medically known as congenital talipes equinovarus (CTEV), is a common congenital deformity of the foot present at birth. It is characterized by the foot being twisted inward and downward, causing an abnormal positioning where the sole faces somewhat medially and the front of the foot points downward. This condition affects approximately 1 in every 1,000 newborns globally, with about half of the cases involving both feet. It is one of the most common musculoskeletal birth defects worldwide and has a higher prevalence in boys than girls, with a male-to-female ratio of roughly 2:1.

Anatomy and Pathophysiology

In a normally developed foot, the tendons—the connective tissues that attach muscles to bones—maintain balance and positioning by pulling at specific angles. In clubfoot, the tendons on the inside and back of the foot are shorter and tighter than usual. This abnormal shortening leads to the foot being drawn inward (adducted) and downward (equinus), with the heel turned inward (varus). The deformity typically has four main components:

• Midfoot cavus: an exaggerated arch of the foot,
• Forefoot adductus: inward deviation of the front of the foot,
• Heel or hindfoot varus: inward tilting of the heel,
• Hindfoot equinus: downward pointed foot caused by tight Achilles tendon.​

Because of these deformities, the foot appears rotated and fixed in an abnormal position that cannot be corrected by simple manipulation. Children with untreated clubfoot often walk on the outer edge or top of the foot, which causes pain, skin sores (calluses), and difficulties with footwear and mobility later in life.

Types and Classification

Clubfoot is generally classified into two categories:

1. Idiopathic Clubfoot (Isolated Clubfoot): This is the most common type, accounting for about 80% of cases. It occurs without any other associated abnormalities or neuromuscular disorders. Idiopathic clubfoot is considered a multifactorial condition resulting from a complex interplay of genetic, environmental, vascular, and positional factors during fetal development.
2. Non-Isolated (Secondary or Syndromic) Clubfoot: This form, comprising about 20% of cases, occurs alongside other medical conditions such as spina bifida, arthrogryposis (joint contractures), or muscular dystrophy. This type is often more rigid and resistant to treatment and may require longer and more intensive management, including multiple surgeries.

Causes and Risk Factors

The exact cause of clubfoot remains uncertain despite decades of research. Both genetic and environmental factors are believed to contribute:

• Genetic predisposition: Studies show familial tendencies, where having a first-degree relative with clubfoot increases the risk by 25%, and identical twins show a 33% concordance rate. However, no single gene mutation has been conclusively identified.
• Environmental factors: These include maternal smoking, maternal diabetes, alcohol consumption during pregnancy, and unusual intrauterine positioning or physical constraints (e.g., a small uterus or oligohydramnios). Seasonal variations affecting maternal temperature during fetal development have also been suggested.
• Mechanical factors: In some cases classified as extrinsic clubfoot, physical compression during pregnancy may lead to milder, more supple deformities.

Overall, the leading theory is that clubfoot results from disruption in the development or functioning of muscles, tendons, and bones in the lower leg and foot during early pregnancy, leading to joint contractures and deformities.

Diagnosis

Clubfoot is most commonly diagnosed at birth by visual and physical examination of the infant’s feet, revealing the characteristic inward twist and rigidity. Affected feet often have a deep crease on the sole and a smaller calf muscle on the affected side due to muscle underdevelopment. The deformity may be unilateral or bilateral.

Prenatal diagnosis via ultrasound is possible, typically around the 20-week anatomy scan, allowing early planning for treatment at birth. Early identification is important because timely management significantly improves outcomes.

Symptoms and Presentation

The classic signs of clubfoot include:

• Feet turned inward and downward,
• Stiffness and rigidity of the foot with limited range of motion,
• Smaller foot size on the affected side,
• Underdeveloped calf muscles,
• Heel turned inward and possible deep creases on the inner sole.

Affected children, without treatment, develop walking difficulties such as walking on the side or top of the foot, leading to pain, skin breakdown, and impaired mobility

Treatment

Clubfoot requires intervention to correct the deformity, as it does not improve spontaneously. The goal of treatment is to enable normal walking without pain or difficulty wearing regular shoes.

Non-surgical Treatment

The Ponseti method is the gold standard for clubfoot correction, especially effective when started shortly after birth:

• Serial casting: Gentle manipulation and weekly casting to gradually stretch the foot and reposition bones and tendons.
• Achilles tendon lengthening: A minor outpatient procedure (tenotomy) frequently performed near the end of the casting phase to lengthen the tight heel cord.
• Bracing: After correction, a foot abduction brace is worn to maintain the correction and prevent relapse, usually for several years or until the child walks independently.

The Ponseti method has a very high success rate worldwide, particularly when started early.

Surgical Treatment

Surgery may be necessary in more severe or resistant cases, or when treatment begins late. Surgical options involve releasing tight tendons and ligaments, repositioning bones, and lengthening muscles. While surgery can provide correction, it carries risks such as stiffness and weakness if overdone. Therefore, surgery is usually reserved for cases where conservative treatment fails.

Prognosis and Long-Term Outcome

When clubfoot is treated early and effectively, children can expect to lead active, normal lives with well-aligned, functional feet. Untreated clubfoot results in lifelong disabilities, including pain, difficulty walking, and inability to wear normal shoes. Treatment outcome depends on severity, timing, and adherence to bracing protocols post-correction.

Even in cases with associated neuromuscular disorders, ongoing orthopedic care can improve mobility and quality of life.

Global Perspective

Clubfoot disproportionately affects low- and middle-income countries, where access to early diagnosis and treatment may be limited. Worldwide efforts by orthopedic organizations and charities focus on training healthcare providers in the Ponseti method and increasing treatment accessibility to reduce disability from untreated clubfoot.

Calcaneal apophysitis, also known as Sever’s disease, is a prevalent cause of heel pain in children and adolescents, particularly those engaged in athletic activity. It represents a temporary yet painful inflammation of the growth plate in the calcaneus (heel bone) before skeletal maturity. The condition typically occurs during periods of rapid growth and resolves after the apophysis fuses with the main body of the calcaneus once ossification completes.

Anatomy and Pathophysiology

The calcaneus is the largest tarsal bone in the foot and develops from two ossification centers: the primary center appears at birth, and the secondary, called the calcaneal apophysis, emerges between ages 5 and 8, fusing around puberty (approximately ages 13–15). The apophysis serves as a site of attachment for the Achilles tendon, which connects the calf muscles to the heel. Continuous traction by the Achilles tendon during growth spurts, especially when the calf muscles do not elongate proportionally, exerts stress on the physes, leading to microtrauma, inflammation, and ultimately pain.

This traction-induced inflammation is the hallmark of calcaneal apophysitis. The condition is distinct from adult heel pain, which is more commonly due to plantar fasciitis; in children, the pain stems from the growing, still-cartilaginous apophysis, making it susceptible to repetitive stresses and excessive strain.

Epidemiology

Calcaneal apophysitis is among the most frequent causes of heel pain in the pediatric and adolescent age groups, predominantly affecting individuals between 8 and 15 years old. It tends to occur more often in physically active children participating in running or jumping sports, such as soccer, basketball, track, and gymnastics. Both genders are affected, though some studies report a slightly higher prevalence among males, likely due to greater participation in high-impact activities.

Bilateral involvement occurs in up to 60% of patients, highlighting the role of symmetrical, repeated loading on both feet. The condition’s onset often coincides with seasonal sports or periods of increased training intensity, further supporting its association with mechanical overuse.

Etiology and Risk Factors

The primary cause of calcaneal apophysitis is repetitive microtrauma to the heel’s growth plate due to excessive traction forces from the Achilles tendon. Contributing factors include:

• Rapid growth spurts leading to tight calf muscles and reduced Achilles tendon flexibility.
• Poorly cushioned or inappropriate footwear, especially flat or “negative-heeled” shoes such as soccer cleats.
• High levels of physical activity without adequate rest or recovery.
• Abnormal body mechanics such as overpronation or unequal leg length.

Other predisposing factors may include obesity and hard playing surfaces, both of which amplify ground reaction forces transmitted through the heel.

Clinical Presentation

Children with calcaneal apophysitis typically report heel pain that worsens during and immediately after physical activity and improves with rest. The pain is localized to the posterior aspect of the heel, near the insertion of the Achilles tendon. It may cause limping or tiptoe walking as compensatory behaviors to reduce discomfort.

Unlike infections or fractures, the heel is usually not visibly swollen or red. Direct palpation or medial-lateral compression of the posterior heel elicits tenderness, which is a diagnostic hallmark. The pain may radiate to the sides or base of the heel but should not extend into the arch or toes.

Diagnosis

Diagnosis is primarily clinical and relies on a thorough history and physical examination. Radiographs are rarely necessary unless to rule out other conditions such as fractures, osteomyelitis, or bone cysts. When imaging is performed, X-rays can show irregularity or fragmentation of the apophysis, findings that can also appear in normal development. Magnetic resonance imaging (MRI) or ultrasound may demonstrate bone marrow edema or apophyseal widening but are reserved for atypical or severe cases.

Differential Diagnosis

Conditions that should be considered include:

• Achilles tendinopathy or bursitis
• Calcaneal stress fracture
• Retrocalcaneal bursitis
• Tarsal coalition
• Plantar fasciitis (rare in children)

A careful clinical assessment and consideration of age, activity level, and symptom characteristics help differentiate these conditions.

Management

Treatment of calcaneal apophysitis is conservative and focuses on symptom relief, reduction of inflammation, and activity modification. Key components include:

• Activity modification: Limiting running and jumping activities until symptoms subside.
• Stretching and strengthening exercises: Especially for the Achilles tendon and gastrocnemius-soleus muscle group, helping to reduce traction on the apophysis.
• Orthotic support: Using heel cups or heel lifts to reduce pressure and absorb shock.
• Footwear: Ensuring properly cushioned, supportive shoes with an elevated heel. Avoiding flat, rigid shoes or cleats.
• Pain management: Application of ice and use of nonsteroidal anti-inflammatory drugs (NSAIDs) as needed for pain control.
• Immobilization: In severe cases, short-term casting or walking boots may be required to alleviate stress on the heel.

Most patients experience complete resolution within weeks to months once the stress on the apophysis is minimized. Importantly, the condition is self-limiting and does not cause lasting anatomical damage once skeletal maturity is reached.​

Prognosis and Prevention

The prognosis for calcaneal apophysitis is excellent. Symptoms typically resolve with conservative management and cessation of growth-related stress on the heel. Recurrence can occur if children return to high-impact activities prematurely or neglect stretching routines. Preventive strategies include regular calf and Achilles tendon stretching, wearing supportive shoes, and gradually increasing sports intensity during seasons of rapid growth.

Emerging Perspectives

Recent clinical studies emphasize the importance of early recognition and multimodal management of the condition. Ultrasound imaging provides a non-invasive means to assess apophyseal changes, and newer orthotic designs aim to optimize heel support and load distribution. Sports medicine specialists increasingly advocate for educational interventions for parents, coaches, and young athletes to promote awareness about footwear selection, stretching, and training schedules.

Calcaneal apophysitis, or Sever’s disease, represents an overuse injury of the heel’s growth plate that arises during childhood and early adolescence. It is a benign and self-limited condition driven by biomechanical stress and growth-related factors. Recognizing the signs early and instituting appropriate conservative management can effectively relieve pain and prevent recurrence. As children mature, the apophysis fuses with the main body of the calcaneus, eliminating future susceptibility. The key lies in balancing physical activity, employing proper footwear, and addressing biomechanical risks — ensuring young athletes maintain both long-term foot health and ongoing participation in sports.

Toe walking, characterized by walking on the balls of the feet with little or no contact between the heels and the ground, is a notable gait pattern observed in children with autism spectrum disorder (ASD). While toe walking can be seen in young children during stages of normal gait development, its persistence beyond early childhood is often associated with underlying neurological or developmental conditions, most prominently autism.

Prevalence and Significance

Persistent toe walking is considerably more frequent among children with autism than in neurotypical peers. Large-scale research has documented that approximately 9% of autistic children demonstrate continued toe walking, compared to less than 0.5% of typically developing children. Other studies suggest a prevalence ranging from 6–20%, with some reports citing even higher rates depending on the age group and clinical setting. This makes autistic children roughly eight times more likely to toe walk than those without ASD. Nevertheless, it is crucial to clarify that not all children who toe walk are autistic, and toe walking itself is not exclusive to autism.

Potential Causes of Toe Walking in Autism

The underlying reasons for toe walking in autism are multifactorial and remain incompletely understood. Sensory processing differences, especially involving the vestibular system, are strongly implicated. The vestibular system provides critical feedback for balance, spatial orientation, and movement. A dysfunctional vestibular system—a common finding in ASD—may disrupt balance and motor planning, prompting toe walking as an adaptive or compensatory response.

• Many autistic individuals have heightened or lowered sensitivity to sensory input, leading them to seek out or avoid certain sensations.
• Toe walking may serve to decrease sensory input from the ground (in sensory-avoidant individuals) or stimulate proprioceptive and vestibular feedback (in sensory-seeking individuals).
• Some children with ASD also exhibit increased muscle tone or subtle dystonia, potentially contributing to the sustained toe-walking posture.
• Delays or differences in motor development and motor planning are also considered relevant factors contributing to this gait pattern in autism.

Clinical Considerations and Developmental Impact

Toe walking in the context of autism can persist through adolescence and even adulthood for some individuals, rather than being a temporary developmental phase. If left unaddressed, chronic toe walking may lead to secondary issues such as shortened Achilles tendons, tight calf muscles, altered foot and ankle biomechanics, and discomfort or pain during activity.

While toe walking alone is not diagnostic of autism, its presence—especially when paired with developmental delays, language difficulties, or social communication deficits—should prompt further evaluation. Early identification allows for timely intervention, potentially preventing longer-term musculoskeletal complications.

Treatment Approaches

Management of toe walking in autistic individuals is multidisciplinary, typically involving occupational therapy, physical therapy, and sensory integration therapy. The specific approach is tailored to the underlying contributing factors and may include:

• Occupational therapy: Focuses on enhancing body awareness, coordination, and sensory processing, which can help normalize gait patterns.
• Physical therapy: Includes gait training, balance activities, muscle stretching, and strengthening, aiming to restore ankle flexibility and encourage heel contact during walking.
• Sensory Integration Therapy: Addresses abnormal sensory processing, especially targeting the vestibular and proprioceptive systems with specific exercises and activities.
• Innovative approaches: The “Cast and Go” protocol (which combines botulinum toxin injections, orthopedic casting, and rehabilitation) has shown promise in correcting persistent toe walking by allowing gradual elongation of the Achilles tendon and retraining walking patterns. Botulinum toxin injections alone, aimed at reducing calf muscle tightness, may be added if spasticity or muscular contraction is a significant factor.
• Assistive devices: In some cases, orthoses or splints may be recommended to help maintain proper foot posture and aid in retraining a normal gait.

Prognosis

Prognosis varies widely. Some autistic individuals may outgrow toe walking with therapy and supportive measures, while others may continue to walk on their toes into adulthood, especially if underlying sensory processing challenges remain significant. Regular monitoring and individualized intervention maximize the potential for a positive outcome.

Toe walking is a distinctive gait pattern commonly observed in children with autism, with rates far exceeding those in the general pediatric population. Its causes are complex, rooted in differences in sensory processing, motor planning, and muscle tone regulation. While toe walking is not unique to autism, its persistence warrants comprehensive assessment and often multidisciplinary intervention. Early recognition and tailored therapy can help alleviate physical complications and promote better motor development for autistic individuals who toe walk.