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Congenital Clubfoot

Hereditary Clubfoot due to PITX1 Point Mutation

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.

Collapse
  • In the few cases described in the literature, the necrosis has involved the entire talus and resulted in progressive fragmentation and collapse.[ncbi.nlm.nih.gov]
Reduced Fetal Movement
  • Martin, A hypothesis and model of reduced fetal movement as a common pathogenetic mechanism in clubfoot, Medical Hypotheses, 73, 6, (986), (2009).[doi.org]
Foot Deformity
  • If the foot deformity is more severe, also larger operations at the age of one year may become necessary.[klinikum.uni-muenchen.de]
  • Although different types of clubfoot exist, the condition is usually accompanied by the following foot deformities: Plantar flexion: Twisting of the ankle. Cavus foot deformity: An unusually high arch in the foot.[my.clevelandclinic.org]
  • Clinically  Small foot  Small calf  Tibia - shortened  Medial and posterior foot skin creases  Foot deformities: Hindfoot - Equinus Varus Midfoot - Cavus Forefoot - Adduction 9.[slideshare.net]
  • Congenital talipes equinovarus (CTEV), also known as clubfoot, is common congenital orthopedic foot deformity in children characterized by four components of foot deformities: hindfoot equinus, hindfoot varus, midfoot cavus, and forefoot adduction.[ncbi.nlm.nih.gov]
  • --Doody's Health Sciences Book Review Synopsis Clubfoot is the most common congenital foot deformity. The great majority of clubfeet can be corrected in infancy in just a few weeks when treated by expert orthopaedic surgeons.[amazon.de]
Foot Pain
  • Foot pain due to abnormal foot positions. Treatment Options Postural: Self resolving. In some cases, physiotherapy intervention for stretching and stimulation to the feet is required.[kkh.com.sg]
  • This study showed that the use of this method resulted in no greater severity of foot pain in adulthood to those experienced by people not affected by club foot.[steps-charity.org.uk]
Foot Disease
  • disease, 055533, 内反, ナイハン, entropion, 040250, 骨関節疾患, コツカンセツシッカン, bone and joint disease, 039877, 外科術, ゲカジュツ, operative surgery, 045593, 治療法, チリョウホウ, therapy, 040918, 患者管理, カンジャカンリ, general patient care, 055786, 範囲, ハンイ, range, 014168, 足根骨, ソクコンコツ,[togodb.biosciencedbc.jp]
Suggestibility
  • Despite ankle range of motion of 30 degrees and a physiologic hindfoot valgus alignment in 19 cases, pedobarography suggested differences in maximum force, impulse, contact area, and peak pressure compared to normal subjects.[ncbi.nlm.nih.gov]
  • Clinical evidence suggests that complete healing occurs between the cut tendon stumps, but there have not yet been any detailed studies investigating this reparative process.[ncbi.nlm.nih.gov]
  • It is concluded that conventional electromyographic techniques were unable to demonstrate abnormalities suggesting neuropathic or myopathic changes in idiopathic clubfoot.[ncbi.nlm.nih.gov]
  • These results suggest that it is important in correction of toe-in gait of congenital clubfoot to correct adduction deformity of the forefoot and equinus deformity of the hindfoot.[ncbi.nlm.nih.gov]
  • Our observations in the head of the talus report two different articular areas: the histological section of medial area facing the navicular shows active articular cartilage and the lateral area shows an atrophic articular cartilage suggesting a difference[ncbi.nlm.nih.gov]
Impulsivity
  • Despite ankle range of motion of 30 degrees and a physiologic hindfoot valgus alignment in 19 cases, pedobarography suggested differences in maximum force, impulse, contact area, and peak pressure compared to normal subjects.[ncbi.nlm.nih.gov]
Neglect
  • We evaluated the effectiveness of Ponseti's technique in neglected clubfoot in children in a rural setting in Ethiopia.[ncbi.nlm.nih.gov]
  • Abstract For neglected clubfeet or clubfeet resistant to conservative treatment, there is an increasing tendency towards early and tailored release.[ncbi.nlm.nih.gov]
  • We report an asymptomatic case of neglected congenital clubfoot in an adult, who is incidentally seeking treatment for her 18-month-old son with congenital clubfoot.[ncbi.nlm.nih.gov]
  • Neglected clubfoot can eventually cause a noticeable disability and severely influence the quality life in adulthood. Early recognition and treatment are presumed to be the key for prevention of late disabilities.[ncbi.nlm.nih.gov]
  • […] of evidence for different plaster casting products, the addition of botulinum toxin A during the Ponseti technique, different types of major foot surgery, continuous passive motion treatment following major foot surgery, or treatment of relapsed or neglected[ncbi.nlm.nih.gov]

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].

Synovial Hemangioma
  • Synovial hemangioma (SH) is a very rare soft tissue tumor; in our department, SH represented 0.07% from all soft tissue tumors (one case from 1311 soft tissue tumors), and 0.78% from all excised hemangiomas (one case from 128 hemangiomas) diagnosed over[ncbi.nlm.nih.gov]

Treatment

  • The efficacy of the treatment was assessed by Pirani's scoring system before and after treatment. RESULTS: Fifty-two feet achieved a normal appearance within 3 to 6 months (average, 4.2 months) after treatment.[ncbi.nlm.nih.gov]
  • The difference between these proportions is statistically highly significant (t 5.84, p CONCLUSION: Minimally invasive surgical treatment (MIST) gives better functional results in the treatment of congenital clubfoot than radical surgical treatment.[ncbi.nlm.nih.gov]
  • The magnetic resonance images were obtained in 6 infants before treatment and 3 months later.[ncbi.nlm.nih.gov]
  • This period of treatment is at least two weeks shorter than the conventional Ponseti technique. One patient did not complete treatment due to hospital-acquired pneumonia.[ncbi.nlm.nih.gov]
  • One of the principles of treatment of these patients includes recognition that no one description of deformities applies to all cases of painful deformity in adults after childhood treatment of congenital clubfoot.[ncbi.nlm.nih.gov]

Prognosis

  • Abstract We investigated the prognosis and clinical importance of concomitant peroneal nerve palsy in congenital clubfoot.[ncbi.nlm.nih.gov]
  • […] the upper extremity 485 357 Fractures of the upper extremities 494 358 Tumors of the upper extremities 522 41 Traumatology basic principles 532 413 Diagnosis 533 414 Special injuries 536 415 Therapeutic principles 540 416 Followup management 543 418 Prognosis[books.google.com]
  • Understanding the exact genetic etiology of clubfoot may eventually be helpful in determining both prognosis and the selection of appropriate treatment methods in individual patients.[ncbi.nlm.nih.gov]
  • Overall prognosis will often depend on other associated condition. Isolated condition may be treated successfully 8. Promoted articles (advertising)[radiopaedia.org]
  • With such a great prognosis coupled with the fact that children with Positional Clubfoot respond so well to conservative strategies, this should be a diagnosis presented with reassurances about outcomes.[blog.dinopt.com]

Etiology

  • Abstract Congenital clubfoot is a common problem of uncertain etiology with a broad spectrum of clinical severity. Much remains controversial and unsolved about this disorder.[ncbi.nlm.nih.gov]
  • Although the etiology is considered multifactorial in the majority of cases, a 17q23.1–q23.2 duplication has been reported in families with congenital clubfoot characterized by variable expressivity and incomplete penetrance.[ncbi.nlm.nih.gov]
  • The etiology of this congenital deformity remains elusive. Muscle anomalies are not commonly found in patients with idiopathic clubfoot, and, when present, their significance is not clear.[ncbi.nlm.nih.gov]
  • Author information 1 Pediatric Orthopedics Department, Clocheville Hospital, Tours University Hospital, Tours, France. f.bergerault@chu-tours.fr Abstract Clubfoot (talipes equinovarus) is a three-dimensional deformity of unknown etiology.[ncbi.nlm.nih.gov]
  • Abstract Although the etiology of congenital clubfoot remains unknown, reproducible pretreatment grading now seems possible.[ncbi.nlm.nih.gov]

Epidemiology

  • Bengt Källén, Pes Equinovarus, Epidemiology of Human Congenital Malformations, 10.1007/978-3-319-01472-2_22, (111-113), (2013).[doi.org]
  • Epidemiology  1-2 in 1000  50% bilateral, Boys 2X  Associations (20%) - SP, CP, AG  ? DDH (Paton RW, 2009)  Family studies: 30% in identical twins, one parent 3-4% and two parents 30% 5.[slideshare.net]
  • International Orthopaedics 17 (1): 11-12 0.87 Japan Yamamoto H (1979) A clinical, genetic and epidemiologic study of congenital club foot.[globalclubfoot.com]
  • Paediatric and Perinatal Epidemiology. 2015;29:3. Zionts LE. What's new in idiopathic clubfoot? Journal of Pediatric Orthopedics. 2015;35:547. Morgenstein A, et al.[mayoclinic.org]
  • Epidemiology [ 3 ] The incidence is approximately 1 in 1,000 births. Around 50% of cases affect both feet. Talipes is almost twice as common in males as it is in females. Globally, 150,000-200,000 babies with talipes are born each year.[patient.info]
Sex distribution
Age distribution

Pathophysiology

  • There is evidence that development of bone, joint, connective tissue, innervation, vasculature and muscle may each be implicated in the pathophysiology.[boneandspine.com]
  • Pathophysiology Various theories of the pathogenesis of clubfeet have been advanced, including the following: Arrest of fetal development in the fibular stage Defective cartilaginous anlage of the talus Neurogenic factors Retracting fibrosis Anomalous[emedicine.com]

Prevention

  • After the complete correction, brace wearing is critical for preventing deformity relapse.[ncbi.nlm.nih.gov]
  • One- or two-stage posteromedial releases did not prevent relapses, even though those done in one stage obtained better results.[ncbi.nlm.nih.gov]
  • Transfer of the tibialis anterior tendon to the lateral border of the foot was carried out to maintain the correction of the foot and to prevent a recurrence of the deformity. No internal fixation was used, but the medial wound was left open.[ncbi.nlm.nih.gov]
  • In our hands, this operation did not prevent relapse, and neither cavovarus nor forefoot adduction was completely corrected.[ncbi.nlm.nih.gov]
  • The use of different outcome measures prevented pooling of data for meta-analysis even when interventions and participants were comparable. All trials displayed bias in four or more areas.[ncbi.nlm.nih.gov]

References

Article

  1. Anand A, Sala DA. Clubfoot: Etiology and treatment. Indian J Orthop. 2008;42(1):22-28.
  2. Nordin S, Aidura M, Razak S, Faisham W. Controversies in Congenital Clubfoot : Literature Review. Malays J Med Sci. 2002;9(1):34-40.
  3. Dobbs MB, Gurnett CA. Update on Clubfoot: Etiology and Treatment. Clin Orthop Relat Res. 2009;467(5):1146-1153.
  4. Miedzybrodzka Z. Congenital talipes equinovarus (clubfoot): a disorder of the foot but not the hand. J Anat. 2003;202(1):37-42.
  5. 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.
  6. 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.
  7. 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.

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Last updated: 2018-06-22 04:43