• Amit GuptaEmail author
  • Charity S. Burke
Reference work entry


Macrodactyly is an extremely rare congenital anomaly causing either static or progressive overgrowth. This overgrowth can involve a single digit or an entire extremity. Macrodactyly can be an isolated phenomenon or part of a syndrome. The exact cause of this overgrowth remains unknown, but there are continued studies at the molecular level to determine a common pathway to link all types of macrodactyly.

The treatment options at this time are observation if the overgrowth is static and not causing functional impairment, or surgical to try to improve function and cosmesis. Splinting and therapy may be attempted, but there is no evidence to support their use. Surgical options range from nerve decompression, epiphysiodesis, debulking, terminalization, middle phalangectomy, osteotomies, and amputation. If the amputation involves the thumb, then pollicization may be considered.

There is no standardized tool to evaluate surgical outcomes for surgery treating macrodactyly. The condition is so rare, and varies so widely from case to case, that it remains one of the most challenging congenital hand anomalies that pediatric hand surgeons face.


Proximal Phalanx Distal Phalanx Plexiform Neurofibroma Compressive Neuropathy Proteus Syndrome 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Supplementary material

Video 1

MTS file: 23136 kB


  1. Akinci M, Sadan A, Ercetin O. Surgical treatment of macrodactyly in older children and adults. J Hand Surg. 2004a;29:1010–1019.CrossRefGoogle Scholar
  2. Akinci M, Ay S, Ercetin O. Surgical treatment of macrodactyly. J Hand Surgery. Nov 2004b;29A(6):1010–1019CrossRefGoogle Scholar
  3. Barsky AJ. Macrodactyly. J Bone Joint Surg. 1967;49A:1255–66.Google Scholar
  4. Carty M, Taghinia A, Upton J. Overgrowth conditions: A diagnostic and therapeutic conundrum, Hand Clinics 2009. 229–245.Google Scholar
  5. De Laurenzi, Vincenzo: Macrodattilia del Medio. Gior. Med. Mil., 1962. 112:401–405.Google Scholar
  6. Edgerton MT, Tuerk DB. Macrodactyly (digital gigantism) its nature and treatment. In Littler JW et al. (eds) Symposium on Reconstructive Hand Surgery. St. Louis: The CV Mosby Company. 1974. P 157.Google Scholar
  7. El-Shami IN. Congenital partial gigantism: case report and review of literature. Surgery. 1969;65:638–88.Google Scholar
  8. Feriz H. Makrodystrophia lipomatosa progressive. Arch Pathol Anat Physiol. 1925;260:308–68.CrossRefGoogle Scholar
  9. Flatt AE. Large fingers. In: Flatt AE, editor. The care of congenital hand anomalies. 2nd ed. St. Louis: Quality Medical Publishing; 1994.Google Scholar
  10. Giele H, Giele C, Bower C, Allison M. The incidence and epidemiology of congenital upper limb anomalies: a total population study. J Hand Surg [Am]. 2001;26(4):628–34.CrossRefGoogle Scholar
  11. Golash A, Watson JS. Nail fold creation in complete syndactyly using Buck-Gramcko pulp flaps. J Hand Surg. 2000;25B:11–4.CrossRefGoogle Scholar
  12. Hays RM, Hackworth SR, Speltz ML, Weinstein P. Physicians’ practice patterns in pediatric electrodiagnosis. Arch Phys Med Rehabil. 1993;74(5):494–496.PubMedCrossRefGoogle Scholar
  13. Kelikian H. Congenital deformities of the hand and forearm. Philadelphia: WB Saunders; 1974. p. 610–60.Google Scholar
  14. Klein V. Ausschalung eines ungewohnlich grossen fingers aus dem Gelenk. Graefe und von Walther J Chir. 1824;6:379–82.Google Scholar
  15. Kotwall P, Farooque M. Macrodactyly. J Bone Joint Surg [Br]. 1998;80-B:651–3.CrossRefGoogle Scholar
  16. Kozin S. Pollicization. The concept, surgical detail, and outcome. Clin Orth Surg. 2012;4:18–35.CrossRefGoogle Scholar
  17. Kunkel S, Eismann E, Cornwall R. Utility of the pediatric outcomes data collection instrument for assessing acute hand and wrist injuries in children. J Pediatr Orthop. 2011;31(7):767–72.PubMedCrossRefGoogle Scholar
  18. Lamb DW, Wynne-Davies R, Soto L. An estimate of the population frequency of congenital malformations of the upper limb. J Hand Surg. 1982;7:557–62.CrossRefGoogle Scholar
  19. Lau FH, Xia F, Kaplan A, Cerrato F, Greene AK, Taghinia A, Cowan CA, Labow BI. Expression analysis of macrodactyly identifies pleiotrophin upregulation. PLoS One. 2012;7(7).Google Scholar
  20. Leung PC, Chan KM, Cheng Cy. Congenital anomalies of upper limb in a Chinese population. J Hand Surgery 1982;7 (6): 563–55.CrossRefGoogle Scholar
  21. Millesi H. Macrodactyly: A case study. In Littler JW, Cramer LM, Smith JW, eds Symposium on reconstructive hand surgery. Vol 9 St. Louis: CV Mosby. 1974.Google Scholar
  22. Miura K, Namba N, Fujiwara M, Ohata Y, Ishida H, Kitaoka T, Kubota T, Hirai H, Higuchi C, Tsumaki N, Yoshikawa H, Sakai N, Michigami T, Ozono K. An overgrowth disorder associated with excessive production of cGMP due to a again of function mutation of the natriuretic peptide receptor 2 gene. PLoS One. 2012;7(8).Google Scholar
  23. Ogino T, Minami A, Fukuda K, Kato H. Congenital anomalies of the upper limb among the Japanese in Sapporo. [Br] J Hand Surg. 1986;11(3):364–71.CrossRefGoogle Scholar
  24. Recklinghaus F. Ueber die multipen Fibroam der Haut und ihre Beziehung zu den multiplen Neuromen. Berlin: A Hirschwald; 1882.Google Scholar
  25. Rios JJ, Paria N, Burns DK, Israel BA, Cornelia R, Wise CA, Ezaki M. Somatic gain of function mutations in PIK3CA in patients with macrodactyly. Hum Mol Genet. 2013;22(3):444–51.PubMedCentralPubMedCrossRefGoogle Scholar
  26. Rosenberg L, Yanai A, Mahler D. A nail island flap for treatment of macrodactyly. Hand. 1983;15:167–72.PubMedCrossRefGoogle Scholar
  27. Tan O, Atik B, Dogan A, Alpaslan S, Uslu M. Middle phalangectomy: a functional and aesthetic cure for macrodactyly. Scand J Plast Reconstr Hand Surgery. 2006;40(6):362–5.CrossRefGoogle Scholar
  28. Tentamy SA, McKussick VA: The Genetics of Hand Malformations. New York: Alan R Liss, INC; 1978.Google Scholar
  29. Tsuge K. Treatment of macrodactyly. J Hand Surg. 1985;10A:968–9.CrossRefGoogle Scholar
  30. Upton J. Congenital anomalies of the hand and forearm. In: May Jr JW, Litter JW, editors. Plastic surgery. Philadelphia: WB Saunders; 1990. p. 5213–398.Google Scholar
  31. Upton J. Failure of differentiation and overgrowth. In: Mathes SJ, Hentz VR, editors. Plastic Surgery, The hand and upper limb, Part 2, vol. VIII. 2nd ed. Philadelphia: WB Saunders; 2005. p. 301, 302, 305, 315; with permission.Google Scholar
  32. Werthemann A. Handbuch der spezielle pathologischen Anatomie und Histologie. Vol IX, Section VI. Berlin: Springer Verlag. 1952:377–93.Google Scholar
  33. Wood VE. Macrodactyly. In: Green DP, Hotchkiss RN, editors. Operative hand surgery, vol. 1. 3rd ed. New York: Churchill Livingstone; 1993. p. 497–509.Google Scholar
  34. Yuksel A, Yagmur H, Kural BS. Prenatal diagnosis of isolated macrodactyly. Ultrasound Obstet Gynecol. 2009;33(3):360–2.PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media New York 2015

Authors and Affiliations

  1. 1.Department of Orthopaedic SurgeryUniversity of LouisvilleLouisvilleUSA
  2. 2.Louisville Arm and HandNorton Orthopaedic CareLouisvilleUSA

Personalised recommendations