CONGENITAL CLUBFOOT: ETIOPATHOGENETIC MECHANISMS AND TREATMENT CHALLENGES
Keywords:
clubfoot deformity, clubfoot etiology, Ponseti method, Achilles tenotomy
Abstract
Clubfoot is recognized as one of the most frequent musculoskeletal deformities. Being characterized by ankle equinus, hindfoot varus, forefoot adduction, cavus and calf muscles’ atrophy, it occurs in 1 to 2 per 1000 newborns. The concrete etiology of the deformity is not completely known but different studies suggest multifactorial pathogenesis, including numerous genetic and environmental risk factors. The most frequent clubfoot clinical presentation is isolated while it may also be associated with other neurologic conditions as the part of a syndrome. The disease is easy seen at birth and its degree may vary from mild to an extremely rigid foot that is not reducible to manipulation. The challenge of identifyng the best clubfoot treatment method has become less demanding as Ponseti invented his method that is today thought to be the gold standard, including weekly stretching and casting while following tenotomy of the Achilles tendon is mandatory for rigid equinus. Foot abduction brace treatment for four to five years is indicated in order to prevent relapse. Surgical soft-tissue releases might be necessary for those resistant clubfeet, where conservative treatment is not suffucient. If untreated, clubfoot leads to lifelong disability so it is essentially important to aware parents about the importance of persistent and patient commitment and compliance during the treatment period.
The aim of this paper is to show the significance of multifactorial clubfoot etiology as well as different clubfoot therapeutic modalities.
References
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11. Kiani SN, Yang D, Zheng JL, Spiegel DA. Clubfoot and the Ponseti Method: A Bibliometric Analysis. JB JS Open Access. 2023 Sep 5;8(3):e23.00005.
12. Ponseti IV. Treatment of congenital club foot. J Bone Joint Surg Am. 1992 Mar;74(3):448-54.
13. Alsiddiky A, Alrwibaah S, Alqahtani A, Alnujidi A, Alhomaidhi A, Almasoud A, Alatassi R. Assessing public awareness of clubfoot and knowledge about the importance of early childhood treatment: a cross-sectional survey. BMC Pediatr. 2019 Oct 17;19(1):358.
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19. Chung CS, Nemechek RW, Larsen IJ, Ching GH. Genetic and epidemiological studies of clubfoot in Hawaii. General and medical considerations. Hum Hered. 1969;19:321–342.
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22. Kruse LM, Buchan JG, Gurnett CA, Dobbs MB. Polygenic threshold model with sex dimorphism in adolescent idiopathic scoliosis: the Carter effect. J Bone Joint Surg Am. 2012;94(16):1485–1491.
23. Hootnick DR, Levinsohn EM, Crider RJ, Packard DS., Jr Congenital arterial malformations associated with clubfoot. A report of two cases. Clin Orthop Relat Res. 1982;167:160–163.
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27. Gurnett CA, Boehm S, Connolly A, Reimschisel T, Dobbs MB. Impact of congenital talipes equinovarus etiology on treatment outcomes. Dev Med Child Neurol. 2008;50:498–502.
28. Lochmiller C, Johnston D, Scott A, Risman M, Hecht JT. Genetic epidemiology study of idiopathic talipes equinovarus. Am J Med Genet. 1998;79(2):90–96.
29. Beals RK. Club foot in the Maori: a genetic study of 50 kindreds. N Z Med J. 1978;88:144–146.
30. Chung CS, Nemechek RW, Larsen IJ, Ching GH. Genetic and epidemiological studies of clubfoot in Hawaii. General and medical considerations. Hum Hered. 1969;19:321–342.
31. Bohm M: The embryologic origins of clubfoot, J Bone Joint Surg 11:229, 1929.
32. Kawashima T, Uhthoff HK: Development of the foot in prenatal life in relation to idiopathic club foot, J Pediatr Orthop 10:232, 1990.
33. Greider TD, Siff SJ, Gerson P, Donovan MM (1982). Arteriography in clubfoot. J Bone Joint Surg (Am). 64: 837-40.
34. Kitziger K, Wilkins K (1991). Absent posterior tibial artery in an infant with talipes varus. J Pediatr Orthop. 11: 777-8.
35. Song HR, Carrol NC, Neyt J, Carter JM, Han J, D’Amato CR. Clubfoot analysis with three –dimensional foot models. J Pediatr Orthop B; 1999 8: 5-11.
36. Valentin B (1961). Geschichte der Orthopaedie. Thieme, Stuttgart, p. 6.
37. Khanshour AM, Kidane YH, Kozlitina J, Cornelia R, Rafipay A, De Mello V, Weston M, Paria N, Khalid A, Hecht JT, Dobbs MB, Richards BS, Vargesson N, Hamra FK, Wilson M, Wise C, Gurnett CA, Rios JJ. Genetic association and characterization of FSTL5 in isolated clubfoot. Hum Mol Genet. 2021 Jan 21;29(22):3717-3728.
38. Ding J, Liang Z, Feng W, Cai Q, Zhang Z. Integrated Bioinformatics Analysis Reveals Potential Pathway Biomarkers and Their Interactions for Clubfoot. Med Sci Monit. 2020 Aug 23;26:e925249.
39. Philip J, Silver RK, Wilson RD, Thom EA, Zachary JM, Mohide P, Mahoney MJ, Simpson JL, Platt LD, Pergament E, Hershey D, Filkins K, Johnson A, Shulman LP, Bang J, MacGregor S, Smith JR, Shaw D, Wapner RJ, Jackson LG. Late first-trimester invasive prenatal diagnosis: results of an international randomized trial. Obstet Gynecol. 2004;103:1164–1173.
40. Tredwell SJ, Wilson D, Wilmink MA. Review of the effect of early amniocentesis on foot deformity in the neonate. J Pediatr Orthop. 2001;21:636–641.
41. Adams F, editor. The genuine works of Hippocrates. W. Wood; 1886.
42. Shack N, Eastwood DM. Early results of a physiotherapist-delivered Ponseti service for the management of idiopathic congenital talipes equinovarus foot deformity. J Bone Joint Surg Br. 2006;88(8):1085–1089.
43. Janicki JA, Narayanan UG, Harvey BJ, Roy A, Weir S, Wright JG. Comparison of surgeon and physiotherapist-directed Ponseti treatment of idiopathic clubfoot. J Bone Joint Surg Am. 2009;91(5):1101–1108.
44. Bensahel H, Catterall A, Dimeglio A. Practical applications in idiopathic clubfoot: a retrospective multicentric study in EPOS. J Pediatr Orthop. 1990;10:186–188.
2. Herring JA, editor. Tachdjian’s Pediatric Orthopaedics, 5th edition. Philadelphia: Elsevier Saunders; 2014.
3. Cady R, Hennessey TA, Schwend RM. Diagnosis and Treatment of Idiopathic Congenital Clubfoot. Pediatrics. 2022 Feb 1;149(2):e2021055555.
4. Esbjörnsson AC, Johansson A, Andriesse H, Wallander H. Epidemiology of clubfoot in Sweden from 2016 to 2019: A national register study. PLoS One. 2021 Dec 2;16(12):e0260336.
5. Ganesan B, Luximon A, Al-Jumaily A, Balasankar SK, Naik GR. Ponseti method in the management of clubfoot under 2 years of age: A systematic review. PLoS One. 2017 Jun 20;12(6):e0178299.
6. Quiggle A, Charng WL, Antunes L, Nikolov M, Bledsoe X, Hecht JT, Dobbs MB, Gurnett CA. Whole Exome Sequencing in Individuals with Idiopathic Clubfoot Reveals a Recurrent Filamin B (FLNB) Deletion. Clin Orthop Relat Res. 2022 Feb 1;480(2):421-430.
7. Yolaçan H, Güler S, Özmanevra R. Clubfoot from past to the present: A bibliometric analysis with global productivity and research trends. Medicine (Baltimore). 2023 Feb 10;102(6):e32803.
8. Owen RM, Capper B, Lavy C. Clubfoot treatment in 2015: a global perspective. BMJ Glob Health. 2018 Sep 3;3(4):e000852.
9. Dobbs MB, Gurnett CA. Update on clubfoot: etiology and treatment. Clin Orthop Relat Res. 2009 May;467(5):1146-53.
10. Merrill LJ, Gurnett CA, Siegel M, Sonavane S, Dobbs MB. Vascular abnormalities correlate with decreased soft tissue volumes in idiopathic clubfoot. Clin Orthop Relat Res. 2011 May;469(5):1442-9.
11. Kiani SN, Yang D, Zheng JL, Spiegel DA. Clubfoot and the Ponseti Method: A Bibliometric Analysis. JB JS Open Access. 2023 Sep 5;8(3):e23.00005.
12. Ponseti IV. Treatment of congenital club foot. J Bone Joint Surg Am. 1992 Mar;74(3):448-54.
13. Alsiddiky A, Alrwibaah S, Alqahtani A, Alnujidi A, Alhomaidhi A, Almasoud A, Alatassi R. Assessing public awareness of clubfoot and knowledge about the importance of early childhood treatment: a cross-sectional survey. BMC Pediatr. 2019 Oct 17;19(1):358.
14. Moon DK, Gurnett CA, Aferol H, Siegel MJ, Commean PK, Dobbs MB. Soft-tissue abnormalities associated with treatment-resistant and treatment-responsive clubfoot: Findings of MRI analysis. J Bone Joint Surg Am. 2014;96(15):1249–1256.
15. Pirani S, Naddumba E, Mathias R, et al.. Towards effective ponseti clubfoot care: the uganda sustainable clubfoot care project. Clin Orthop Relat Res 2009;467:1154–63.
16. Sadler B, Gurnett CA, Dobbs MB. The genetics of isolated and syndromic clubfoot. J Child Orthop. 2019 Jun 1;13(3):238-244.
17. Gurnett CA, Boehm S, Connolly A, Reimschisel T, Dobbs MB. Impact of congenital talipes equinovarus etiology on treatment outcomes. Dev Med Child Neurol 2008;50:498-502.
18. Beals RK. Club foot in the Maori: a genetic study of 50 kindreds. N Z Med J. 1978;88:144–146.
19. Chung CS, Nemechek RW, Larsen IJ, Ching GH. Genetic and epidemiological studies of clubfoot in Hawaii. General and medical considerations. Hum Hered. 1969;19:321–342.
20. Nguyen MC, Nhi HM, Nam VQ, Thanh do V, Romitti P, Morcuende JA. Descriptive epidemiology of clubfoot in Vietnam: A clinic-based study. Iowa Orthop J. 2012;32:120–124.
21. Wynne-Davies R. Genetic and environmental factors in the etiology of talipes equinovarus. Clin Orthop Relat Res. 1972;84(84):9–13.
22. Kruse LM, Buchan JG, Gurnett CA, Dobbs MB. Polygenic threshold model with sex dimorphism in adolescent idiopathic scoliosis: the Carter effect. J Bone Joint Surg Am. 2012;94(16):1485–1491.
23. Hootnick DR, Levinsohn EM, Crider RJ, Packard DS., Jr Congenital arterial malformations associated with clubfoot. A report of two cases. Clin Orthop Relat Res. 1982;167:160–163.
24. Dunn PM. Congenital postural deformities: perinatal associations. Proc R Soc Med. 1972;65:735–738.
25. Bonnell J, Cruess RL. Anomalous insertion of the soleus muscle as a cause of fixed equinus deformity. A case report. J Bone Joint Surg Am. 1969;51:999–1000.
26. Gurnett CA, Alaee F, Kruse LM, Desruisseau DM, Hecht JT, Wise CA, Bowcock AM, Dobbs MB. Asymmetric lower-limb malformations in individuals with homeobox PITX1 gene mutation. Am J Hum Genet. 2008;83:616–622.
27. Gurnett CA, Boehm S, Connolly A, Reimschisel T, Dobbs MB. Impact of congenital talipes equinovarus etiology on treatment outcomes. Dev Med Child Neurol. 2008;50:498–502.
28. Lochmiller C, Johnston D, Scott A, Risman M, Hecht JT. Genetic epidemiology study of idiopathic talipes equinovarus. Am J Med Genet. 1998;79(2):90–96.
29. Beals RK. Club foot in the Maori: a genetic study of 50 kindreds. N Z Med J. 1978;88:144–146.
30. Chung CS, Nemechek RW, Larsen IJ, Ching GH. Genetic and epidemiological studies of clubfoot in Hawaii. General and medical considerations. Hum Hered. 1969;19:321–342.
31. Bohm M: The embryologic origins of clubfoot, J Bone Joint Surg 11:229, 1929.
32. Kawashima T, Uhthoff HK: Development of the foot in prenatal life in relation to idiopathic club foot, J Pediatr Orthop 10:232, 1990.
33. Greider TD, Siff SJ, Gerson P, Donovan MM (1982). Arteriography in clubfoot. J Bone Joint Surg (Am). 64: 837-40.
34. Kitziger K, Wilkins K (1991). Absent posterior tibial artery in an infant with talipes varus. J Pediatr Orthop. 11: 777-8.
35. Song HR, Carrol NC, Neyt J, Carter JM, Han J, D’Amato CR. Clubfoot analysis with three –dimensional foot models. J Pediatr Orthop B; 1999 8: 5-11.
36. Valentin B (1961). Geschichte der Orthopaedie. Thieme, Stuttgart, p. 6.
37. Khanshour AM, Kidane YH, Kozlitina J, Cornelia R, Rafipay A, De Mello V, Weston M, Paria N, Khalid A, Hecht JT, Dobbs MB, Richards BS, Vargesson N, Hamra FK, Wilson M, Wise C, Gurnett CA, Rios JJ. Genetic association and characterization of FSTL5 in isolated clubfoot. Hum Mol Genet. 2021 Jan 21;29(22):3717-3728.
38. Ding J, Liang Z, Feng W, Cai Q, Zhang Z. Integrated Bioinformatics Analysis Reveals Potential Pathway Biomarkers and Their Interactions for Clubfoot. Med Sci Monit. 2020 Aug 23;26:e925249.
39. Philip J, Silver RK, Wilson RD, Thom EA, Zachary JM, Mohide P, Mahoney MJ, Simpson JL, Platt LD, Pergament E, Hershey D, Filkins K, Johnson A, Shulman LP, Bang J, MacGregor S, Smith JR, Shaw D, Wapner RJ, Jackson LG. Late first-trimester invasive prenatal diagnosis: results of an international randomized trial. Obstet Gynecol. 2004;103:1164–1173.
40. Tredwell SJ, Wilson D, Wilmink MA. Review of the effect of early amniocentesis on foot deformity in the neonate. J Pediatr Orthop. 2001;21:636–641.
41. Adams F, editor. The genuine works of Hippocrates. W. Wood; 1886.
42. Shack N, Eastwood DM. Early results of a physiotherapist-delivered Ponseti service for the management of idiopathic congenital talipes equinovarus foot deformity. J Bone Joint Surg Br. 2006;88(8):1085–1089.
43. Janicki JA, Narayanan UG, Harvey BJ, Roy A, Weir S, Wright JG. Comparison of surgeon and physiotherapist-directed Ponseti treatment of idiopathic clubfoot. J Bone Joint Surg Am. 2009;91(5):1101–1108.
44. Bensahel H, Catterall A, Dimeglio A. Practical applications in idiopathic clubfoot: a retrospective multicentric study in EPOS. J Pediatr Orthop. 1990;10:186–188.
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2025/12/19
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