Skip to main content
NCBI home page
Journal of Anatomy logoLink to Journal of Anatomy
. 1998 Jul;193(Pt 1):121–130. doi: 10.1046/j.1469-7580.1998.19310121.x

A polydactylous human foot with ‘double-dorsal’ toes

DEANA D'SOUZA *,✉, JAMES McDIARMID *,* , CHERYLL TICKLE *
PMCID: PMC1467828  PMID: 9758142

Abstract

A human polydactylous left foot with 9 toes, amputated from an 11-mo-old child, was examined by x-ray and magnetic resonance imaging and by gross dissection to identify the digits. The normal sequence of toes from medial to lateral is 1, 2, 3, 4, 5. Examination of the morphology of tendons and muscles suggested the toe sequence was 1, 2, 3/4, ?,5,2, 3/4, 3/4, 5. The 2 toes in the sequence that are underlined were displaced dorsally and were found to have 2 extensor tendons, no flexor tendons and nails that were conical and situated at their tips. These toes resembled those described as ‘double-dorsal’ and which develop in paws of mice in which a gene normally expressed ventrally is functionally inactivated (Loomis et al. 1996). Specification of toe formation occurs in leg buds early in embryonic development and later there is rotation of the limb so that the anterior (rostral) part comes to lie medially, i.e. the hallux which was anterior (rostral) now is on the inner (medial) side of the foot. A disruption in the patterning of this foot in both anteroposterior (rostral-caudal) and dorsoventral axes during development could be responsible.

Keywords: Limb development, supernumerary digits, conical nails, Sonic hedgehog

Full Text

The Full Text of this article is available as a PDF (461.7 KB).

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Al-Qattan M. M., Hassanain J., Hawary M. B. Congenital palmar nail syndrome. J Hand Surg Br. 1997 Oct;22(5):674–675. doi: 10.1016/s0266-7681(97)80374-9. [DOI] [PubMed] [Google Scholar]
  2. Chan D. C., Laufer E., Tabin C., Leder P. Polydactylous limbs in Strong's Luxoid mice result from ectopic polarizing activity. Development. 1995 Jul;121(7):1971–1978. doi: 10.1242/dev.121.7.1971. [DOI] [PubMed] [Google Scholar]
  3. Chang D. T., López A., von Kessler D. P., Chiang C., Simandl B. K., Zhao R., Seldin M. F., Fallon J. F., Beachy P. A. Products, genetic linkage and limb patterning activity of a murine hedgehog gene. Development. 1994 Nov;120(11):3339–3353. doi: 10.1242/dev.120.11.3339. [DOI] [PubMed] [Google Scholar]
  4. Davis C. A., Holmyard D. P., Millen K. J., Joyner A. L. Examining pattern formation in mouse, chicken and frog embryos with an En-specific antiserum. Development. 1991 Feb;111(2):287–298. doi: 10.1242/dev.111.2.287. [DOI] [PubMed] [Google Scholar]
  5. Dealy C. N., Roth A., Ferrari D., Brown A. M., Kosher R. A. Wnt-5a and Wnt-7a are expressed in the developing chick limb bud in a manner suggesting roles in pattern formation along the proximodistal and dorsoventral axes. Mech Dev. 1993 Oct;43(2-3):175–186. doi: 10.1016/0925-4773(93)90034-u. [DOI] [PubMed] [Google Scholar]
  6. Dollé P., Izpisúa-Belmonte J. C., Falkenstein H., Renucci A., Duboule D. Coordinate expression of the murine Hox-5 complex homoeobox-containing genes during limb pattern formation. Nature. 1989 Dec 14;342(6251):767–772. doi: 10.1038/342767a0. [DOI] [PubMed] [Google Scholar]
  7. Echelard Y., Epstein D. J., St-Jacques B., Shen L., Mohler J., McMahon J. A., McMahon A. P. Sonic hedgehog, a member of a family of putative signaling molecules, is implicated in the regulation of CNS polarity. Cell. 1993 Dec 31;75(7):1417–1430. doi: 10.1016/0092-8674(93)90627-3. [DOI] [PubMed] [Google Scholar]
  8. Francis-West P. H., Robertson K. E., Ede D. A., Rodriguez C., Izpisúa-Belmonte J. C., Houston B., Burt D. W., Gribbin C., Brickell P. M., Tickle C. Expression of genes encoding bone morphogenetic proteins and sonic hedgehog in talpid (ta3) limb buds: their relationships in the signalling cascade involved in limb patterning. Dev Dyn. 1995 Jun;203(2):187–197. doi: 10.1002/aja.1002030207. [DOI] [PubMed] [Google Scholar]
  9. GOETINCK P. F. STUDIES ON LIMB MORPHOGENESIS. II. EXPERIMENTS WITH THE POLYDACTYLOUS MUTANT EUDIPLOPODIA. Dev Biol. 1964 Aug;10:71–91. doi: 10.1016/0012-1606(64)90005-3. [DOI] [PubMed] [Google Scholar]
  10. Gardner C. A., Barald K. F. Expression patterns of engrailed-like proteins in the chick embryo. Dev Dyn. 1992 Apr;193(4):370–388. doi: 10.1002/aja.1001930410. [DOI] [PubMed] [Google Scholar]
  11. Hesselschwerdt H. J., Heisel J. Mesomele Dysplasie: Falldarstellung und Literatur zum Werner-Syndrom. Z Orthop Ihre Grenzgeb. 1990 Sep-Oct;128(5):466–472. doi: 10.1055/s-2008-1039598. [DOI] [PubMed] [Google Scholar]
  12. Hinchliffe J. R., Sansom A. The distribution of the polarizing zone (ZPA) in the legbud of the chick embryo. J Embryol Exp Morphol. 1985 Apr;86:169–175. [PubMed] [Google Scholar]
  13. Honig L. S., Summerbell D. Maps of strength of positional signalling activity in the developing chick wing bud. J Embryol Exp Morphol. 1985 Jun;87:163–174. [PubMed] [Google Scholar]
  14. Izpisúa-Belmonte J. C., Ede D. A., Tickle C., Duboule D. The mis-expression of posterior Hox-4 genes in talpid (ta3) mutant wings correlates with the absence of anteroposterior polarity. Development. 1992 Apr;114(4):959–963. doi: 10.1242/dev.114.4.959. [DOI] [PubMed] [Google Scholar]
  15. Izpisúa-Belmonte J. C., Tickle C., Dollé P., Wolpert L., Duboule D. Expression of the homeobox Hox-4 genes and the specification of position in chick wing development. Nature. 1991 Apr 18;350(6319):585–589. doi: 10.1038/350585a0. [DOI] [PubMed] [Google Scholar]
  16. Loomis C. A., Harris E., Michaud J., Wurst W., Hanks M., Joyner A. L. The mouse Engrailed-1 gene and ventral limb patterning. Nature. 1996 Jul 25;382(6589):360–363. doi: 10.1038/382360a0. [DOI] [PubMed] [Google Scholar]
  17. López-Martínez A., Chang D. T., Chiang C., Porter J. A., Ros M. A., Simandl B. K., Beachy P. A., Fallon J. F. Limb-patterning activity and restricted posterior localization of the amino-terminal product of Sonic hedgehog cleavage. Curr Biol. 1995 Jul 1;5(7):791–796. doi: 10.1016/s0960-9822(95)00156-4. [DOI] [PubMed] [Google Scholar]
  18. MacCabe J. A., Errick J., Saunders J. W., Jr Ectodermal control of the dorsoventral axis in the leg bud of the chick embryo. Dev Biol. 1974 Jul;39(1):69–82. doi: 10.1016/s0012-1606(74)80009-6. [DOI] [PubMed] [Google Scholar]
  19. Maccabe A. B., Gasseling M. T., Saunders J. W., Jr Spatiotemporal distribution of mechanisms that control outgrowth and anteroposterior polarization of the limb bud in the chick embryo. Mech Ageing Dev. 1973 Apr-May;2(1):1–12. doi: 10.1016/0047-6374(73)90002-x. [DOI] [PubMed] [Google Scholar]
  20. Masuya H., Sagai T., Wakana S., Moriwaki K., Shiroishi T. A duplicated zone of polarizing activity in polydactylous mouse mutants. Genes Dev. 1995 Jul 1;9(13):1645–1653. doi: 10.1101/gad.9.13.1645. [DOI] [PubMed] [Google Scholar]
  21. Muragaki Y., Mundlos S., Upton J., Olsen B. R. Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13. Science. 1996 Apr 26;272(5261):548–551. doi: 10.1126/science.272.5261.548. [DOI] [PubMed] [Google Scholar]
  22. Parr B. A., McMahon A. P. Dorsalizing signal Wnt-7a required for normal polarity of D-V and A-P axes of mouse limb. Nature. 1995 Mar 23;374(6520):350–353. doi: 10.1038/374350a0. [DOI] [PubMed] [Google Scholar]
  23. Parr B. A., Shea M. J., Vassileva G., McMahon A. P. Mouse Wnt genes exhibit discrete domains of expression in the early embryonic CNS and limb buds. Development. 1993 Sep;119(1):247–261. doi: 10.1242/dev.119.1.247. [DOI] [PubMed] [Google Scholar]
  24. Pautou M. P., Kieny M. Interaction ecto-mésodermique dans l'établissement de la polarité dorso-ventrale du pied de l'embryon de poulet. C R Acad Sci Hebd Seances Acad Sci D. 1973 Oct 1;277(13):1225–1228. [PubMed] [Google Scholar]
  25. Phelps D. A., Grogan D. P. Polydactyly of the foot. J Pediatr Orthop. 1985 Jul-Aug;5(4):446–451. doi: 10.1097/01241398-198507000-00012. [DOI] [PubMed] [Google Scholar]
  26. Riddle R. D., Ensini M., Nelson C., Tsuchida T., Jessell T. M., Tabin C. Induction of the LIM homeobox gene Lmx1 by WNT7a establishes dorsoventral pattern in the vertebrate limb. Cell. 1995 Nov 17;83(4):631–640. doi: 10.1016/0092-8674(95)90103-5. [DOI] [PubMed] [Google Scholar]
  27. Riddle R. D., Johnson R. L., Laufer E., Tabin C. Sonic hedgehog mediates the polarizing activity of the ZPA. Cell. 1993 Dec 31;75(7):1401–1416. doi: 10.1016/0092-8674(93)90626-2. [DOI] [PubMed] [Google Scholar]
  28. Saunders J. W., Jr, Gasseling M. T., Errick J. E. Inductive activity and enduring cellular constitution of a supernumerary apical ectodermal ridge grafted to the limb bud of the chick embryo. Dev Biol. 1976 May;50(1):16–25. doi: 10.1016/0012-1606(76)90063-4. [DOI] [PubMed] [Google Scholar]
  29. Tickle C., Alberts B., Wolpert L., Lee J. Local application of retinoic acid to the limb bond mimics the action of the polarizing region. Nature. 1982 Apr 8;296(5857):564–566. doi: 10.1038/296564a0. [DOI] [PubMed] [Google Scholar]
  30. Tickle C., Summerbell D., Wolpert L. Positional signalling and specification of digits in chick limb morphogenesis. Nature. 1975 Mar 20;254(5497):199–202. doi: 10.1038/254199a0. [DOI] [PubMed] [Google Scholar]
  31. Vogel A., Rodriguez C., Warnken W., Izpisúa Belmonte J. C. Dorsal cell fate specified by chick Lmx1 during vertebrate limb development. Nature. 1995 Dec 14;378(6558):716–720. doi: 10.1038/378716a0. [DOI] [PubMed] [Google Scholar]
  32. Wang H. J., Cheng L. F., Tung Y. M., Chen T. M. Central-type eight-toed polydactyly associated with ipsilateral complex renogluteal agenesis: a case report with 8 years' follow-up. J Pediatr Surg. 1996 Mar;31(3):444–446. doi: 10.1016/s0022-3468(96)90759-9. [DOI] [PubMed] [Google Scholar]
  33. Yang Y., Drossopoulou G., Chuang P. T., Duprez D., Marti E., Bumcrot D., Vargesson N., Clarke J., Niswander L., McMahon A. Relationship between dose, distance and time in Sonic Hedgehog-mediated regulation of anteroposterior polarity in the chick limb. Development. 1997 Nov;124(21):4393–4404. doi: 10.1242/dev.124.21.4393. [DOI] [PubMed] [Google Scholar]
  34. Zákány J., Duboule D. Synpolydactyly in mice with a targeted deficiency in the HoxD complex. Nature. 1996 Nov 7;384(6604):69–71. doi: 10.1038/384069a0. [DOI] [PubMed] [Google Scholar]

Articles from Journal of Anatomy are provided here courtesy of Anatomical Society of Great Britain and Ireland

RESOURCES