Clubfoot, or talipes equinovarus, is one of the most common congenital deformities affecting the lower limbs in approximately 1–2 in 1,000 live births. The incidence is higher in Hispanics and lower in Asians. Although clubfoot is recognizable at birth, the severity of the deformity can vary from mild to an extremely rigid foot that is resistant to manipulation (Dobbs and Gurnett 2009).
Synonyms and Related Disorders
Talipes equinovarus
Genetics/Basic Defects
- 1.
Pathogenesis
- a.
Genetic cause: suggested because it tends to run in families (Lochmiller et al. 1998)
- b.
Oligohydramnios: suggested as a cause from early amniocentesis data (CEMAT Group 1998)
- c.
Osseous deformities (Shapiro and Glimcher 1979), muscle abnormalities (Herceg et al. 2006), and arrested fetal development (Fukuhara et al. 1994): hypothesized to play a role in pathogenesis
- a.
- 2.
Etiology (Dobbs and Gurnett 2009)
- a.
Most commonly as an isolated birth defect and considered idiopathic (Wynne-Davies 1964): various theories...
- a.
References
Bakalis, S., Sairam, S., Homfray, T., et al. (2002). Outcome of antenatally diagnosed talipes equinovarus in an unselected obstetric population. Ultrasound in Obstetrics & Gynecology, 20, 226–229.
Bar-On, E., Mashiach, R., Inbar, O., et al. (2005). Prenatal ultrasound diagnosis of club foot. Outcome and recommendations for counseling and follow-up. The Journal of Bone and Joint Surgery. British volume, 87, 990–993.
Barry, M. (2005). Prenatal assessment of foot deformity. Early Human Development, 81, 793–796.
Beals, R. K. (1978). Club foot in the Maori: A genetic study of 50 kindreds. The New Zealand Medical Journal, 88, 144–146.
Bonnell, J., & Cruess, R. L. (1969). Anomalous insertion of the soleus muscle as a cause of fixed equinus deformity. A case report. The Journal of Bone and Joint Surgery. American volume, 51, 999–1000.
CEMAT (The Canadian Early and Mid-trimester Amniocentesis Trial) Group. (1998). Randomised trial to assess safety and fetal outcome of early and midtrimester amniocentesis. Lancet, 351, 242–247.
Chung, C. S., Nemechek, R. W., Larsen, I. J., et al. (1969). Genetic and epidemiological studies of clubfoot in Hawaii. General and medical considerations. Human Heredity, 19, 321–342.
Chung, E. M., & Rooks, V. J. (2007). clubfoot. EMedicine.com, April, 2007.
Cowell, H. R. (1985). The management of club foot. The Journal of Bone and Joint Surgery. American volume, 67, 991–992.
Cowell, H. R., & Wein, B. K. (1980). Genetic aspects of club foot. The Journal of Bone and Joint Surgery. American volume, 62, 1381–1384.
Cummings, R. J., & Davidson, R. S. (2002). Congenital clubfoot. The Journal of Bone and Joint Surgery. American volume, 84, 290–308.
Dobbs, M. B., & Gurnett, C. A. (2009). Update on clubfoot: Etiology and treatment (Review). Clinical Orthopaedics and Related Research, 467, 1146–1153.
Dobbs, M. B., Rudzki, B., Purcell, D. B., et al. (2004). Factors predictive of outcome after use of the Ponseti method for the treatment of idiopathic clubfeet. The Journal of Bone and Joint Surgery. American volume, 86, 22–27.
Dunn, P. M. (1972). Congenital postural deformities: Perinatal associations. Proceedings of the Royal Society of Medicine, 65, 735–738.
Engel, V., Damborg, F., Andersen, M., et al. (2006). Club foot. A twin study. The Journal of Bone and Joint Surgery. British volume, 88, 374–376.
Fukuhara, K., Schollmeier, G., & Uhthoff, H. K. (1994). The pathogenesis of club foot. A histomorphometric and immunohistochemical study of fetuses. The Journal of Bone and Joint Surgery. British volume, 76, 450–457.
Gurnett, C. A., Alaee, F., Desruisseau, D., et al. (2009). Skeletal muscle contractile gene (TNNT3, MYH3, TPM2) mutations not found in vertical talus or clubfoot. Clinical Orthopaedics and Related Research, 467, 1195–1200.
Gurnett, C. A., Alaee, F., Kruse, L. M., et al. (2008). Asymmetric lower-limb malformations in individuals with homeobox PITX1 gene mutation. American Journal of Human Genetics, 83, 616–622.
Gurnett, C. A., Boehm, S., Connolly, A., et al. (2008). Impact of congenital talipes equinovarus etiology on treatment outcomes. Developmental Medicine and Child Neurology, 50, 498–502.
Hart, E. S., Grottkau, B. E., Rebello, G., et al. (2005). The newborn foot: Diagnosis and management of common conditions. Orthopaedic Nursing, 24, 313–321.
Herceg, M. B., Weiner, D. S., & Agamanolis, D. P. (2006). Histologic and histochemical analysis of muscle specimens in idiopathic talipes equinovarus. Journal of Pediatric Orthopaedics, 26, 91–93.
Hootnick, D. R., Levinsohn, E. M., Crider, R. J., et al. (1982). Congenital arterial malformations associated with clubfoot. A report of two cases. Clinical Orthopaedics and Related Research, 167, 160–163.
Honein, M. A., Paulozzi, L. J., Moore, C. A. (2000). Family history, maternal smoking, and clubfoot: an indication of a gene-environment interaction. American Journal of Epidemiology, 152(7), 658–665.
Hulme, A. (2005). The management of congenital talipes equinovarus. Early Human Development, 81, 797–802.
Ippolito, E., Farsetti, P., Caterini, R., et al. (2003). Long-term comparative results in patients with congenital clubfoot treated with two different protocols. The Journal of Bone and Joint Surgery. American volume, 85, 1286–1294.
Kite, J. H. (1964). The clubfoot. New York: Grune and Stratton.
Laaveg, S. J., & Ponseti, I. V. (1980). Long-term results of treatment of congenital club foot. The Journal of Bone and Joint Surgery. American volume, 62, 23–31.
Lochmiller, C. L., Johnston, D., Scott, A., et al. (1998). Genetic epidemiology study of idiopathic talipes equinovarus. American Journal of Medical Genetics, 79, 90–96.
Lourenco, A. F., & Morcuende, J. A. (2007). Correction of neglected idiopathic club foot by the Ponseti method. The Journal of Bone and Joint Surgery. British volume, 89, 378–381.
Miedzybrodzka, Z. (2003). Congenital talipes equinovarus (clubfoot): A disorder of the foot but not the hand. Journal of Anatomy, 202, 37–42.
Morcuende, J. A., Dolan, L. A., Dietz, R. R., et al. (2004). Radical reduction in the rate of extensive corrective surgery for clubfoot using the Ponseti method. Pediatrics, 113, 376–380.
Munshi, S., Varghese, R. A., & Joseph, B. (2006). Evaluation of outcome of treatment of congenital clubfoot. Journal of Pediatric Orthopaedics, 26, 664–672.
Patel, M., & Herzenberg, J. (2007). Clubfoot. EMedicine.com, April, 2007.
Philip, J., Silver, R. K., Wilson, R. D., et al. (2004). Late first-trimester invasive prenatal diagnosis: Results of an international randomized trial. Obstetrics and Gynecology, 103, 1164–1173.
Ponseti, I. V. (1992). Treatment of congenital club foot. The Journal of Bone and Joint Surgery. American volume, 74, 448–454.
Ponseti, I. V., & Campos, J. (2009). The classic: Observations on pathogenesis and treatment of congenital clubfoot. Clinical Orthopaedics and Related Research, 467, 1124–1132.
Ponseti, I. V., & Smoley, E. N. (2009). The classic: Congenital club foot: The results of treatment. Clinical Orthopaedics and Related Research, 467, 1133–1145.
Poon, R., Li, C., & Alman, B. A. (2009). Beta-catenin mediates soft tissue contracture in clubfoot. Clinical Orthopaedics and Related Research, 467, 1180–1185.
Scher, D. M. (2006). The Ponseti method for treatment of congenital club foot. Current Opinion in Pediatrics, 18, 22–25.
Shapiro, F., Glimcher, M. J. (1979). Gross and histological abnormalities of the talus in congenital clubfoot. The Journal of Bone and Joint Surgery. American volume, 61, 522–530.
Shapiro, M. D., Marks, M. E., Peichel, C. L., et al. (2004). Genetic and developmental basis of evolutionary pelvic reduction in threespine sticklebacks. Nature, 428, 717–723.
Sung, S. S., Brassington, A. M., Grannatt, K., et al. (2003). Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. American Journal of Human Genetics, 72, 681–690.
Sung, S. S., Brassington, A. M., Krakowiak, P. A., et al. (2003). Mutations in TNNT3 cause multiple congenital contractures: A second locus for distal arthrogryposis type 2B. American Journal of Human Genetics, 73, 212–214.
Tillett, R. L., Fisk, N. M., Murphy, F. K., et al. (2000). Clinical outcome of congenital talipes equinovarus diagnosed antenatally by ultrasound. The Journal of Bone and Joint Surgery. British volume, 82, 876–880.
Toydemir, R. M., Rutherford, A., Whitby, F. G., et al. (2006). Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome. Nature Genetics, 38, 561–565.
Treadwell, M. C., Stanitski, C. L., & King, M. (1999). Prenatal sonographic diagnosis of clubfoot: Implications for patient counseling. Journal of Pediatric Orthopaedics, 19, 8–10.
Tredwell, S. J., Wilson, D., & Wilmink, M. A. (2001). Review of the effect of early amniocentesis on foot deformity in the neonate. Journal of Pediatric Orthopaedics, 21, 636–641.
Veugelers, M., Bressan, M., McDermott, D. A., et al. (2004). Mutation of perinatal myosin heavy chain associated with a Carney complex variant. The New England Journal of Medicine, 351, 460–469.
Wynne-Davies, R. (1965). Family studies and aetiology of club foot. Journal of Medical Genetics, 2, 227–232.
Wynne-Davies, R. (1972). Genetic and environmental factors in the etiology of talipes equinovarus. Clinical Orthopaedics and Related Research, 84, 9–13.
Wynne-Davies, R. (1964). Family studies and the cause of congenital club foot. Talipes equinovarus, talipes calcaneo-valgus and metatarsus varus. The Journal of Bone and Joint Surgery. British volume, 46, 445–463.
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2012 Springer Science+Business Media, LLC
About this entry
Cite this entry
(2012). Clubfoot. In: Chen, H. (eds) Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-1037-9_46
Download citation
DOI: https://doi.org/10.1007/978-1-4614-1037-9_46
Publisher Name: Springer, New York, NY
Print ISBN: 978-1-4614-1036-2
Online ISBN: 978-1-4614-1037-9
eBook Packages: Biomedical and Life SciencesReference Module Biomedical and Life Sciences