Clubfoot: Symptoms, Types, Causes and Treatment

Clubfoot, also known as congenital talipes equinovarus (CTEV), is one of the most common birth deformities, impacting thousands of newborns worldwide each year. Despite its prevalence, clubfoot remains a complex condition, with variable symptoms, multiple types, a nuanced etiology, and evolving treatment approaches. This article provides a comprehensive overview of clubfoot, synthesizing the latest research to empower families, caregivers, and health professionals with a clear, evidence-based understanding of the condition.

Symptoms of Clubfoot

Clubfoot is a condition that is immediately noticeable at birth, but the range and severity of symptoms can vary. Recognizing these signs early is crucial for timely intervention and optimal outcomes.

Symptom	Description	Typical Onset	Source(s)
Foot Deformity	Inward and downward turning of the foot; may appear twisted or rotated	At birth	1, 5, 9
Rigidity	Stiffness in the foot and ankle; limited flexibility	At birth	1, 9
Abnormal Gait	Difficulty walking if untreated; limping or awkward gait	Childhood	5, 10
Calf Atrophy	Underdeveloped calf muscles on the affected side	At birth, childhood	7, 5

Table 1: Key Symptoms

Understanding Clubfoot Symptoms

The hallmark symptom of clubfoot is a visible deformity of the foot. In most cases, the foot points downward and inward, resembling a golf club, which is where the name "clubfoot" originates. The affected foot appears twisted, and the sole may face sideways or even upward. This abnormal positioning is usually accompanied by:

• Stiffness or Rigidity: The foot and ankle are often rigid, making it difficult or impossible to correct the position through gentle manipulation. This stiffness distinguishes true clubfoot from milder, positional foot deformities 1.
• Calf Muscle Underdevelopment: Children with clubfoot typically have smaller calf muscles on the affected side, likely due to reduced activity and altered muscle development 7.
• Abnormal Gait if Untreated: If not corrected, the foot deformity leads to difficulty walking. Children may limp, walk on the side of their foot, or be unable to place the sole flat on the ground, resulting in chronic pain and limited mobility 5, 10.

Symptom Progression

Clubfoot does not cause pain in newborns, but as children grow, untreated clubfoot can result in significant disability. The abnormal positioning of the foot may lead to calluses, skin breakdown, and arthritis in later life 5. The earlier the diagnosis and treatment, the better the chances for a pain-free, functional foot.

Types of Clubfoot

Clubfoot is not a single, uniform condition. It encompasses several types, each with distinct features and implications for treatment and prognosis.

Type	Key Features	Typical Prognosis	Source(s)
Idiopathic	Classic, isolated clubfoot; no other anomalies	Good with early treatment	1, 3, 4
Syndromic	Occurs with other syndromes or anomalies	Complex, higher recurrence	2, 3
Complex/Atypical	Stiff, resistant to treatment; recurrent	Challenging, high relapse	3, 11
Positional	Due to intrauterine positioning; flexible	Often self-corrects	5

Table 2: Types of Clubfoot

Idiopathic (Congenital) Clubfoot

Idiopathic clubfoot is the most common form and usually presents as an isolated deformity with no associated syndromes or anomalies 1, 4. These cases respond best to early, non-surgical treatments such as the Ponseti method.

Syndromic Clubfoot

Here, clubfoot is part of a broader syndrome or genetic disorder, such as arthrogryposis or spina bifida. These cases are typically more severe, more rigid, and have a higher likelihood of recurrence or incomplete correction 2, 3. Genetic mutations affecting connective tissues or extracellular matrix proteins may be involved 2.

Complex or Atypical Clubfoot

Complex clubfoot (also called "atypical" or "teratologic") is more rigid, may relapse more frequently, and often requires modified treatment approaches. These cases can occur in isolation or as a result of improper initial casting or underlying neuromuscular conditions 3, 11. Arthrogrypotic clubfoot is an example, requiring specialized management due to its severity and high recurrence rate 3.

Positional Clubfoot

This type results from abnormal positioning of the fetus in the uterus, leading to a flexible foot deformity at birth. Unlike true clubfoot, positional cases are generally mild and often resolve on their own or with minimal intervention 5.

Causes of Clubfoot

The exact cause of clubfoot remains elusive, but research points to a combination of genetic and environmental influences, with some risk factors being modifiable.

Cause Type	Key Examples or Mechanisms	Relative Risk/Impact	Source(s)
Genetic	Family history, PITX1 mutation, single major gene on polygenic background	High	2, 5, 7, 8
Environmental	Maternal smoking, obesity, SSRI use, amniocentesis	Moderate to High	6
Syndromic	Part of genetic syndromes affecting connective tissue/muscles	Variable	2, 3
Intrauterine	Abnormal fetal posture	Low (mild cases)	5, 1

Table 3: Causes and Risk Factors

Genetic Factors

• Family History: Having a first-degree relative with clubfoot substantially increases risk (odds ratio ~7.8) 6. Up to 24–50% of cases report a positive family history, with higher rates in certain ethnic groups 5.
• Single Major Gene: Recent analyses suggest a strong genetic component, possibly involving a single gene acting against a polygenic background 5, 8. PITX1 mutations and other genetic pathways related to connective tissue development have been implicated 7, 2.
• Heritability: Clubfoot clusters in families but does not follow classic Mendelian inheritance, suggesting both genetic heterogeneity and multifactorial contributions 8.

Environmental and Modifiable Risk Factors

• Maternal and Paternal Smoking: Both are linked to increased risk; maternal smoking nearly doubles odds 6.
• Maternal Obesity: Higher body mass index (>30) increases clubfoot risk 6.
• Medication Use: Use of selective serotonin reuptake inhibitors (SSRIs) during pregnancy and exposure to amniocentesis procedures are also associated with clubfoot 6.

Syndromic and Secondary Causes

• Syndromic Clubfoot: Some cases are linked to broader genetic syndromes affecting connective tissue, peroxisomal proteins, or enzymes for proteoglycan sulfation 2.
• Neuromuscular/Structural Causes: Clubfoot may occur as part of neuromuscular disorders, such as arthrogryposis multiplex congenita, which present with severe, rigid deformities 3.

Intrauterine and Positional Causes

• Abnormal Fetal Posture: The mildest forms of clubfoot may be due to the baby’s position in the womb, which can lead to temporary deformity that often resolves after birth 5, 1.

Treatment of Clubfoot

Effective treatment is essential to prevent lifelong disability. Approaches have shifted from extensive surgery to more conservative, minimally invasive methods, with the Ponseti method leading the way globally.

Treatment	Main Components	Typical Outcome	Source(s)
Ponseti Method	Manipulation, serial casting, Achilles tenotomy, bracing	High success, low invasiveness	9, 10, 12
French Method	Physical therapy, taping, splinting	Alternative option	4
Surgical	Soft-tissue release, bony procedures (for refractory cases)	Reserved for failures	4, 10, 11
Modified Approaches	Adjustments for complex/atypical cases	Needed for rigid/relapsing feet	3, 11

Table 4: Treatment Approaches

Ponseti Method

The Ponseti method is now the global gold standard for initial clubfoot treatment. It involves:

• Gentle Manipulation and Serial Casting: The foot is gently manipulated and placed in a series of casts, typically changed weekly to gradually correct the deformity.
• Percutaneous Achilles Tenotomy: A minor outpatient procedure to release the tight Achilles tendon is often required.
• Bracing: After correction, a foot abduction brace is used to maintain alignment and prevent relapse.

This approach is highly effective for idiopathic clubfoot, with long-term success reported in the majority of cases, especially when families adhere to the bracing protocol 9, 10, 12. Non-compliance with bracing is the leading cause of relapse 9, 11.

French Method and Other Conservative Treatments

The French method uses daily physical therapy, stretching, taping, and splinting. While effective, it is less commonly used due to the intensive time commitment required from families and therapists 4.

Surgical Approaches

Surgery is now reserved for cases where conservative treatment fails or in severe, rigid, or relapsed cases. Modern protocols emphasize minimizing extensive soft-tissue releases to avoid complications like stiffness and pain later in life 4, 10. “A la carte” surgery, tailored to individual needs, is preferred when necessary 4.

Treatment of Complex and Syndromic Clubfoot

Rigid, atypical, or syndromic clubfoot cases often require modified Ponseti protocols or alternative surgical strategies. These cases have higher recurrence rates and may need ongoing intervention 3, 11.

Global Access and Challenges

While the Ponseti method is effective and accepted worldwide, especially in low- and middle-income countries, treatment access remains limited. Less than 15% of children in such settings receive treatment, highlighting the need for expanded services and awareness 12.

Conclusion

Clubfoot is a complex but treatable condition. Early recognition and intervention are key to ensuring children can walk, run, and participate fully in life. Here’s a quick summary of what we’ve covered:

• Symptoms: Clubfoot is marked by an inward- and downward-turning stiff foot, calf muscle underdevelopment, and—if untreated—an abnormal gait 1, 5, 7, 9, 10.
• Types: Clubfoot occurs in idiopathic, syndromic, complex/atypical, and positional forms, with varying implications for prognosis and management 1, 2, 3, 4, 5, 11.
• Causes: Both genetic and environmental factors are involved, with family history being the strongest risk factor. Modifiable risks include smoking and maternal obesity 2, 5, 6, 7, 8.
• Treatment: The Ponseti method is the gold standard, with high success and minimal invasiveness. Surgery is reserved for persistent or complex cases. Access to treatment remains a challenge in many parts of the world 4, 9, 10, 11, 12.

Empowering families and communities with knowledge of clubfoot ensures timely intervention, effective treatment, and the best chance for children to live active, healthy lives.