Congenital clubfoot (or talipes equinovarus) is one of the most common congenital musculoskeletal anomalies and is characterized by inward rotation of the foot and a range of bony abnormalities that cause walking difficulties and a significant impairment in the quality of life. Antenatal ultrasonography and a thorough clinical assessment in the first several days after birth are essential components of the diagnostic workup.
Presentation
With an incidence rate of 1-2 per 1000 live births, congenital clubfoot is one of the most frequently encountered congenital anomalies of the musculoskeletal system in clinical practice [1]. Although some diseases are assumed to carry an increased risk for this anomaly, the etiology and pathogenesis of congenital clubfoot remain to be elucidated [1]. Congenital clubfoot is also known as congenital talipes equinovarus, where "talipes" stems from words "talus" and "pes" (ankle and foot, respectively), whereas "equinovarus" is derived from "equinus" (horse) and "varus", describing inversion and adduction of the foot [1] [2]. Congenital clubfoot is distinguished by the appearance of four distinct signs - equinus (deformities present in talocalcaneonavicular joint, ankle joint, and the forefoot), varus (inversion of the foot), adductus (complete adduction), and cavus (plantar flexion of the forefoot) [1] [2] [3] [4]. A bilateral presentation is usually seen, and the feet are described as "bean-shaped" [1] [5]. Because of the numerous pathological changes in the bone anatomy, patients suffer from significant walking difficulties as they have to walk on the lateral aspects of their feet (or on the top of their fingers). These pathological factors often result in an inability to wear regular shoes, calf muscle atrophy, but also in skin trauma and secondary infections [1] [3]. Furthermore, the overall capacity for movement is reduced, resulting in a marked reduction in the quality of life.
Workup
Many studies have stressed the importance of an early diagnosis of congenital clubfoot [1] [3] [6] [7], primarily because early conservative treatment can be of great benefit in reducing the deformity. For this reason, a thorough clinical assessment shortly after birth and in the next few days is of critical importance for identifying the condition early on [1] [2]. The physician must carefully examine the neonate and observe if the appearance of the foot, its mobility, as well as position are within physiological limits. Plain radiography is of limited use in the neonatal period and early infancy (the reason being incomplete ossification and an unwanted exposure to X-rays) but after 4 months of age X-rays of the feet can be used to evaluate the status of the tarsal and lower leg bones [1] [2]. A prenatal diagnosis might be considered with the use of antenatal ultrasonography, which has been established as an effective method for early recognition of the disorder by some authors [1] [6]. Fetal ultrasound is able to recognize congenital clubfoot as early as at 18-20 weeks of gestation, and when this musculoskeletal anomaly is recognized at a such an early period, amniocentesis is recommended due to the increased frequency of concomitant disorders (e.g. neural tube defects, congenital heart disease, trisomy 18) [1].
Treatment
The primary treatment for clubfoot is the Ponseti method, which involves gentle manipulation and casting of the foot to gradually correct the deformity. This is typically followed by a minor surgical procedure called a tenotomy to release the Achilles tendon. After correction, the child must wear a brace to maintain the foot's position and prevent recurrence. In some cases, more extensive surgery may be required.
Prognosis
With early and appropriate treatment, most children with clubfoot can achieve normal foot function and lead active lives. The Ponseti method has a high success rate, but ongoing follow-up is necessary to monitor for recurrence. Untreated clubfoot can result in significant disability, pain, and difficulty walking.
Etiology
The exact cause of clubfoot is unknown, but it is believed to result from a combination of genetic and environmental factors. It is more common in males and can run in families, suggesting a hereditary component. Other potential risk factors include maternal smoking during pregnancy and certain prenatal infections.
Epidemiology
Clubfoot is one of the most common congenital deformities, affecting approximately 1 in 1,000 live births worldwide. The incidence varies by population and geographic region. It is more prevalent in males than females and can occur in one or both feet.
Pathophysiology
The pathophysiology of clubfoot involves abnormal development of the muscles, tendons, and bones in the foot and lower leg. This results in the characteristic inward and downward twisting of the foot. The exact mechanisms leading to these changes are not fully understood, but they likely involve a combination of genetic and environmental influences.
Prevention
There is no known way to prevent clubfoot, but certain measures may reduce the risk. These include avoiding smoking and alcohol during pregnancy and ensuring proper prenatal care. Genetic counseling may be beneficial for families with a history of clubfoot.
Summary
Clubfoot is a common congenital foot deformity that, if untreated, can lead to significant mobility issues. Early diagnosis and treatment, primarily through the Ponseti method, are essential for achieving good outcomes. While the exact cause is unknown, a combination of genetic and environmental factors is believed to contribute to its development.
Patient Information
For parents of a child diagnosed with clubfoot, it is important to understand that this condition is treatable, and with proper care, most children can lead normal, active lives. Treatment typically involves a series of casts and possibly a minor surgical procedure, followed by the use of a brace. Regular follow-up with a healthcare provider is crucial to ensure the best possible outcome.
References
- Anand A, Sala DA. Clubfoot: Etiology and treatment. Indian J Orthop. 2008;42(1):22-28.
- Nordin S, Aidura M, Razak S, Faisham W. Controversies in Congenital Clubfoot : Literature Review. Malays J Med Sci. 2002;9(1):34-40.
- Dobbs MB, Gurnett CA. Update on Clubfoot: Etiology and Treatment. Clin Orthop Relat Res. 2009;467(5):1146-1153.
- Miedzybrodzka Z. Congenital talipes equinovarus (clubfoot): a disorder of the foot but not the hand. J Anat. 2003;202(1):37-42.
- Elgeidi A, Abulsaad M. Combined double tarsal wedge osteotomy and transcuneiform osteotomy for correction of resistant clubfoot deformity (the “bean-shaped” foot) J Child Orthop. 2014;8(5):399–404.
- Faldini C, Traina F, Nanni M, Sanzarello I, Borghi R, Perna F. Congenital idiopathic talipes equinovarus before and after walking age: observations and strategy of treatment from a series of 88 cases. J Orthop Traumatol. 2016;17(1):81-87.
- Rosselli P, Nossa S, Huérfano E, et al. Prenatal Ultrasound Diagnosis of Congenital Talipes Equinovarus in Bogota (Colombia) Between 2003 and 2012. Iowa Orthop J. 2015;35:156-159.