• 1.

    Matthews, JG. :The developmental anatomy of the foot. .The Foot 8::17. ,1998. .

  • 2.

    Wilkie, AOM. :Why study human limb malformations? J Anat 202::27. ,2003. .

  • 3.

    Barham, G and NMP Clarke. :Genetic regulation of embryological limb development with relation to congenital limb deformity in humans. .J Child Orthop 2::1. ,2008. .

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 4.

    Castle, D and R Bernstein. :Trisomy 18 syndrome with cleft foot. .J Med Genet 25::568. ,1988. .

  • 5.

    Gurrieri, F, P Prinos, D Tacjels, et al. :A split hand-split foot (SHFM3) gene is located at 10Q24→25. .Am J Med Genet 62::427. ,1996. .

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 6.

    Goodman, FR. :Limb malformations and the human HOX genes. .Am J Med Genet 112::256. ,2002. .

  • 7.

    Malik, S, J Schott, SW Ali, et al. :Evidence for clinical and genetic heterogeneity of syndactyly type 1: the phenotype of second and third toe syndactyly maps to chromosome 3p21.31. .Eur J Hum Genet 13::1268. ,2005. .

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 8.

    Naruse, T, M Takahara, M Takagi, et al. :Busulfan-induced central polydactyly, syndactyly and cleft hand or foot: a common mechanism of disruption leads to divergent phenotypes. .Dev Growth Differ 49::533. ,2007. .

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 9.

    Dobbs, MB, CA Gurnett, J Robarge, et al. :Variable hand and foot abnormalities in family with congenital vertical talus and CDMP-1 gene mutation. .J Orthop Res 23::1490. ,2006. .

    • Crossref
    • Search Google Scholar
    • Export Citation
  • 10.

    Dobbs, MB, CA Gurnett, B Pierce, et al. :HOXD M319K mutation in a family with isolated congenital vertical talus. .J Orthop Res 24::448. ,2006. .

  • 11.

    Mann, RW. :Calcaneus secundarius: description and frequency in six skeletal samples. .Am J Phys Anthropol 81::17. ,1990. .

  • 12.

    Roukis, TS and JS Hurless. :The hallucal interphalangeal sesamoid. .J Foot Ankle Surg 35::303. ,1996. .

  • 13.

    Case, DT, NS Ossenberg, and SE Burnett. :Os intermetatarseum: a heritable accessory bone of the human foot. .Am J Phys Anthropol 107::199. ,1998. .

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 14.

    Ruhli, FJ, LB Solomon, and M Henneberg. :High prevalence of tarsal coalitions and tarsal joint variants in a recent cadaver sample and its possible significance. .Clin Anat 16::411. ,2003. .

    • Crossref
    • Search Google Scholar
    • Export Citation
  • 15.

    Arakawa, T, K Tokita, A Miki, et al. :Anatomical study of human adductor hallucis muscle with respect to its origin and insertion. .Ann Anat 185::585. ,2003. .

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 16.

    Dharap, AS, H Al-Hashimi, S Kassab, et al. :Incidence and ossification of sesamoid bones in the hand and feet: a radiographic study in an Arab population. .Clin Anat 20::416. ,2007. .

    • Crossref
    • Search Google Scholar
    • Export Citation
  • 17.

    Hawes, MR, D Sovak, M Miyashita, et al. :Ethnic differences in forefoot shape and the determination of shoe comfort. .Ergonomics 37::187. ,1994. .

  • 18.

    Igbigbi, PS and BC Msamati. :The footprint ratio as a predictor of pes planus: a study of indigenous Malawians. .J Foot Ankle Surg 41::394. ,2002. .

  • 19.

    Stavlas, P, TB Grivas, C Michas, et al. :The evolution of foot morphology in children between 6 & 17 years of age: a cross-sectional study based on footprints in a Mediterranean population. .J Foot Ankle Surg 44::424. ,2005. .

    • Crossref
    • Search Google Scholar
    • Export Citation
  • 20.

    Fessler, DMT, KH Haley, and RD Lal. :Sexual dimorphism in foot length proportionate to stature. .Ann Hum Biol 32::44. ,2005. .

  • 21.

    McFadden, D and MS Bracht. :Sex and race differences in the relative lengths of metacarpals and metatarsals in human skeletons. .Early Hum Dev 85::117. ,2009. .

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 22.

    Reno, PL, MA McCollum, MJ Cohn, et al. :Patterns of correlation and covariation of anthropoid distal fore-limb segments correspond to Hoxd expression territories. .J Exp Zool B Mol Dev Evol 310::240. ,2008. .

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 23.

    Funakoshi, K. :Secular changes in the angle of divergence of the first two metatarsals in the Japanese. .Am J Phys Anthropol 75::341. ,1988. .

  • 24.

    Le Minor, JM and M Winter. :The intermetatarsal articular facet of the first metatarsal bone in humans: a derived trait unique within primates. .Ann Anat 185::359. ,2003. .

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 25.

    Prabhakar, S, A Visel, and JA Akiyama. :Human-specific gain of function in a developmental enhancer. .Science 321::1346. ,2008. .

  • 26.

    Billmann, F and JM Le Minor. :Secondary centers of ossification of the human toes: exceptional polymorphism and evolutionary perspectives. .Am J Phys Anthropol 132::110. ,2007. .

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 27.

    Poe, S. :A test for patterns of modularity in sequences of developmental events. .Evolution 58.:1852. ,2004. .

  • 28.

    Klingenberg, CP, LJ Leamy, EJ Routman, et al. :Genetic architecture of mandible shape in mice: effects of quantitative trait loci analyzed by geometric morphometrics. .Genetics 157::785. ,2001. .

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 29.

    Monteiro, LR, B Bordin, and SF dos Reis. :Shape distances, shape spaces and the comparison of morphometric methods. .Trends Ecol Evol 15::217. ,2000. .

  • 30.

    Von Dassow, G and E Munro. :Modularity in animal development and evolution: elements of a conceptual framework for EvoDevo. .J Exp Zool B Mol Dev Evol 285::307. ,1999. .

    • Crossref
    • Search Google Scholar
    • Export Citation
  • 31.

    Waddington, CH. :Canalization of development and the inheritance of acquired characters. .Nature 150::536. ,1942. .

  • 32.

    Zelditch, ML, BL Lundrigan, and T Garland Jr. :Developmental regulation of skull morphology: I. Ontogenetic dynamics of variance. .Evol Dev 6::194. ,2004. .

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 33.

    Klingenberg, CP. :Morphometrics and the role of the phenotype in studies of the evolution of developmental mechanisms. :Gene 287::3. ,2002. .

  • 34.

    Danforth, CH. :The heredity of unilateral variations in man. .Genetics 9::199. ,1924. .

  • 35.

    Cretekos, CJ, Y Wang, ED Green, et al. :Regulatory divergence modifies limb length between mammals. .Genes Dev 15::121. ,2008. .

  • 36.

    Hellier, CA and N Jeffrey. :Morphological plasticity in the juvenile talus. .J Foot Ankle Surg 12::139. ,2006. .

  • 37.

    Debat, V and P David. :Mapping phenotypes: canalization, plasticity and developmental stability. .Trends Ecol Evol 16::555. ,2001. .

  • 38.

    Tabin, CJ. :Why we have (only) five fingers per hand: Hox genes and the evolution of paired limbs. .Development 116::289. ,1992. .

  • 39.

    Kraus, BS and S Ahern. :Deviations in the sequence of appearance of primary centers of ossification in the feet of human fetuses with cleft lip and/or palate. .Am J Anat 118::735. ,2005. .

    • Crossref
    • Search Google Scholar
    • Export Citation
  • 40.

    Galis, F. :Why do almost all mammals have seven cervical vertebrae? developmental constraints, Hox genes, and cancer. .J Exp Zool B Mol Dev Evol 285::19. ,1999. .

    • Crossref
    • Search Google Scholar
    • Export Citation
  • 41.

    Kennedy-Hunt, JP, B Wang, EA Norgard, et al. :Pleiotropic patterns of quantitative trait loci for 70 murine skeletal traits. .Genetics 178::2275. ,2008. .

    • Crossref
    • Search Google Scholar
    • Export Citation
  • 42.

    Crockford, SJ. :Thyroid rhythm phenotypes and hominid evolution: a new paradigm implicates pulsatile hormone secretion in speciation and adaption changes. .Comp Biochem Physiol A Mol Integr Physiol 135::105. ,2003. .

    • Crossref
    • Search Google Scholar
    • Export Citation
  • 43.

    Hartman IV, JL, B Garvik, and L Hartwell. :Principles for the buffering of genetic variation. .Science 291::1001. ,2009. .

  • 44.

    Hemminki, K, JL Bermejo, and A Forsti. :The balance between heritable and environmental aetiology of human disease. .Nat Rev Genet 7::958. ,2006. .

  • 45.

    Plotkin, S. :Case presentation of calcaneonavicular coalition in monozygotic twins. .JAPMA 86::433. ,1996. .

  • 46.

    Ozdeir, E, S Bostanci, A Akyol, et al. :Congenital malalignment of the great toenails in a pair of monozygotic twins. .JAPMA 95::398. ,2005. .

    • Search Google Scholar
    • Export Citation
  • 47.

    Bruder, CEG, A Piotrowski, AA Gijsbers, et al. :Phenotypically concordant and discordant monozygotic twins display different DNA copy-number-variation profiles. .Am J Hum Genet 82::763. ,2008. .

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 48.

    Jaenisch, R and A Bird. :Epigenetic regulation of gene expression: how the genome integrates intrinsic and environmental signals. .Nat Genet 33 ( suppl:):245. ,2003. .

  • 49.

    Petronis, A. :Epigenetics as a unifying principle in the aetiology of complex traits and diseases. .Nature 456::721. ,2010. .

  • 50.

    Fraga, MF, E Ballestar, MF Paz, et al. :Epigenetic differences arise during the lifetime of monozygotic twins. .Proc Natl Acad Sci U S A 102::10604. ,2005. .

  • 51.

    Handel, AE, GC Ebers, and SV Ramagopalan. :Epigenetics molecular mechanisms and implications for disease. .Trends Mol Med 16::7. ,2009. .

  • 52.

    Harradine, P and L Bevan. :A review of the theoretical unified approach to podiatric biomechanics in relation to foot orthoses therapy. .JAPMA 99::317. ,2009. .

    • Search Google Scholar
    • Export Citation
  • 53.

    Glasoe, WM, HJ Yack, and CL Saltzman. :Anatomy and biomechanics of the first ray. .Phys Ther 79::854. ,1999. .

  • 54.

    Hansen Jr, ST. :Introduction: the first metatarsal: it’s importance in the human foot. .Clin Podiatr Med Surg 26::351. ,2009. .

  • 55.

    Fuller, EA. :The windlass mechanism of the foot: a mechanical model to explain pathology. .JAPMA 90::35. ,2000. .

  • 56.

    Aquino, A and C Payne. :Function of the windlass mechanism in excessively pronated feet. .JAPMA 91::245. ,2001. .

  • 57.

    Dananberg, HJ. :Gait style as an etiology to chronic postural pain: part 1. Functional hallux limitus. .JAPMA 83::433. ,1993. .

  • 58.

    Dananberg, HJ. :Gait style as an etiology to chronic postural pain: part II. Postural compensatory process. .JAPMA 83::615. ,1993. .

  • 59.

    Manoli II, A and B Graham. :The subtle cavus foot, “the underpronator,” a review. .Foot Ankle Int 26::256. ,2005. .

  • 60.

    Cheung, JT-M, M Zhang, and K-N An. :Effects of plantar fascia stiffness on the biomechanical responses of the ankle-foot complex. .Clin Biomech 19::839. ,2004. .

    • Crossref
    • Search Google Scholar
    • Export Citation
  • 61.

    Cornwall, MW, WD Fishco, TG McPoil, et al. :Reliability and validity of clinically assessing first-ray mobility of the foot. .JAPMA 94::470. ,2004. .

    • Search Google Scholar
    • Export Citation
  • 62.

    Cornwall, MW and TG McPoil. :Motion of the calcaneus, navicular, and first metatarsal during the stance phase of walking. .JAPMA 92::67. ,2002. .

    • Search Google Scholar
    • Export Citation
  • 63.

    Menz, HB. :Alternative techniques for the clinical assessment of foot pronation. .JAPMA 88::119. ,1998. .

  • 64.

    Vinicombe, A, A Raspovic, and HB Menz. :Reliability of navicular displacement measurement as a clinical indicator of foot posture. .JAPMA 91::262. ,2001. .

    • Search Google Scholar
    • Export Citation
  • 65.

    LaPointe, SJ, C Peebles, A Nakra, et al. :The reliability of clinical and caliper-based calcaneal bisection measurements. .JAPMA 91::121. ,2001. .

    • Search Google Scholar
    • Export Citation
  • 66.

    Cornwall, MW and TG McPoil. :Influence of rearfoot postural alignment on rearfoot motion during walking. .Foot 14::133. ,2004. .

  • 67.

    McPoil, TG and MW Cornwall. :Use of the longitudinal arch angle to predict dynamic foot posture in walking. .JAPMA 95::114. ,2005. .

  • 68.

    McPoil, TG and MW Cornwall. :Prediction of dynamic foot posture during running using the longitudinal arch angle. .JAPMA 97::102. ,2007. .

    • Search Google Scholar
    • Export Citation
  • 69.

    McPoil, TG, MW Cornwall, L Medoff, et al. :Arch height change during sit-to-stand: an alternative for the navicular drop test. .J Foot Ankle Res 1::1. ,2008. .

    • Crossref
    • Search Google Scholar
    • Export Citation
  • 70.

    Bruckner, J. :Variations in the human subtalar joint. .J Orthop Sports Phys Ther 8::489. ,1987. .

  • 71.

    Kirby, KA. :Subtalar joint axis location and rotational equilibrium theory of foot function. .JAPMA 91::465. ,2001. .

  • 72.

    Fuller, EA. :Center of pressure and its theoretical relationship to foot pathology. .JAPMA 89::278. ,1999. .

  • 73.

    Payne, C, S Munteanu, and K Miller. :Position of the subtalar joint axis and resistance of the rearfoot to supination. .JAPMA 93::131. ,2003. .

    • Search Google Scholar
    • Export Citation
  • 74.

    Nielsen, RG, MS Rathlef, OH Simonsen, et al. :Determination of normal values for navicular drop during walking: a new model correcting for foot length and gender. .J Foot Ankle Res 2::12. ,2009. .

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 75.

    Dicharry, JM, JR Franz, UD Croce, et al. :Differences in static and dynamic measures in evaluation of talonavicular mobility in gait. .J Orthop Sport Phys Ther 39::628. ,2009. .

    • Crossref
    • Search Google Scholar
    • Export Citation
  • 76.

    Missitzi, J, N Geladas, and V Klissouras. :Heritability in neuromuscular coordination: implications for motor control strategies. .Med Sci Sports Exerc 36::233. ,2004. .

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 77.

    Cavanagh, PR, E Morag, AJM Boulton, et al. :The relationship of static foot structure to dynamic foot function. :J Biomech 30::243. ,1997. .

  • 78.

    Ledoux, WR, ES Rohr, RP Ching, et al. :Effect of foot shape on the three-dimensional position of foot bones. .J Orthop Res 24::2176. ,2006. .

  • 79.

    Wilken, JM. :The effect of arch height on triplanar foot kinematics during gait [thesis] .http://ir.uiowa.edu/cgi/viewcontent.cgi?article=1248&context=etd. .University of Iowa. ;May 2006. .

    • Search Google Scholar
    • Export Citation
  • 80.

    Scharfbillig, R, AM Evans, AW Copper, et al. :Criterion validation of four criteria of the Foot Posture Index. .JAPMA 94::31. ,2004. .

  • 81.

    Lee, S, CC Muller, D Stefanyshyn, et al. :Relative forefoot abduction and its relationship to foot length in vitro. .Clin Biomech 14::193. ,1999. .

    • Crossref
    • Search Google Scholar
    • Export Citation
  • 82.

    Nielsen, RG, M Rathleff, UG Kersting, et al. :The predictive value of the foot posture index on dynamic function. .J Foot Ankle Res 1 ( supp1:):O37. ,2008. .

    • Crossref
    • Search Google Scholar
    • Export Citation
  • 83.

    Ker, RF, MB Bennett, SR Bibby, et al. :The spring in the arch of the human foot. .Nature 325::147. ,1987. .

  • 84.

    Agic, A, V Nikolic, and B Mijovic. :Foot anthropometry and morphology phenomena. .Coll Antropol 30::815. ,2006. .

  • 85.

    Chen, H, BM Nigg, M Hulliger, et al. :Influence of sensory input on plantar pressure distribution. .Clin Biomech 10::271. ,1995. .

  • 86.

    Nurse, MA and BM Nigg. :The effect of changes in foot sensation on plantar pressure and muscle activity. .Clin Biomech 16::719. ,2001. .

  • 87.

    Nigg, BM. :The role of impact forces and foot pronation: a new paradigm. .Clin J Sport Med 11::2. ,2001. .

  • 88.

    Fiolkowski, P, M Bishop, D Brunt, et al. :Plantar feedback contributes to the regulation of leg stiffness. .Clin Biomech 20::952. ,2005. .

    • Crossref
    • Search Google Scholar
    • Export Citation
  • 89.

    Marsden, JF, J Castellote, and BL Day. :Bipedal distribution of human vestibular-evoked postural responses during asymmetrical standing. .J Physiol 542::323. ,2002. .

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 90.

    Razeghi, M and ME Batt. :Biomechanical analysis of the effect of orthotic shoe inserts. .Sports Med 29::425. ,2000. .

  • 91.

    Nawoczenski, DA, TM Cook, and CL Saltzman. :The effect of foot orthotics on three-dimensional kinematics of the leg and rearfoot during running. .J Orthop Sports Phys Ther 21::317. ,1995. .

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation
  • 92.

    Root, ML, WP Orion, JH Weed, et al. :Normal and Abnormal Function of the Foot. , Vol2.,Clinical Biomechanics Corp. ,Los Angeles. ,1977. .

    • Search Google Scholar
    • Export Citation
  • 93.

    Cornwall, MW and TG McPoil. :Three-dimensional movement of the foot during the stance phase of walking. .JAPMA 89::56. ,1999. .

  • 94.

    McPoil, TG and GC Hunt. :Evaluation and management of foot and ankle disorders: present problems and future directions. .J Orthop Sports Phys Ther 21::381. ,1995. .

    • Crossref
    • PubMed
    • Search Google Scholar
    • Export Citation

Normal Genetic Variation of the Human Foot: Part 2

Population Variance, Epigenetic Mechanisms, and Developmental Constraint in Function

Greg Quinn FCPodS1
View More View Less
  • 1 Podiatric Surgery, Holywell Healthcare, Chesterfield, Derbyshire, England. Mr. Quinn is now with Podiatric Surgery, Circle Clinic, Rother House Medical Centre, Alcester Road, Stratford Upon Avon, Warwickshire CV37 6PP, England. (E-mail: gregquinn.podsurgeon@gmail.com)
Restricted access

Congenital deformities of the foot have been reported to correlate with regulatory epigenetic mechanisms that are also responsible for the timing and sequencing of developmental growth of the lower limb. Developmental variance of normal morphologic features has also been shown to vary between populations despite the retention of human foot characteristics. The molecular evidence for genetically controlled expressions of common evolved physical features is highly suggestive of regulatory control mechanisms that act together with developmental constraints to homogenize the retained functional characteristics of the foot. Genetic variance in morphologic features and functional plasticity when linked to morphometric change during gait may prove influential in clarifying kinematic and kinetic relationships (J Am Podiatr Med Assoc 102(2): 149–156, 2012)