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Central Deficiency (Cleft Hand)

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Congenital Anomalies of the Upper Extremity

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Abstract

This chapter presents the definition, incidence, and genetics of cleft hand and the differences between the cleft hand and other types of longitudinal deficiency. Also presented are the teratogenic mechanisms of formation of cleft hand and the position of cleft hand in modified Swanson’s classification: abnormal induction of digital rays. Also described are clinical characteristics, surgical subclassification, cleft of the fourth web space, abnormal induction of digital rays (including cleft hand) with hypoplastic hand, and other associated deformities.

Typical cleft hand, central polydactyly, and osseous syndactyly appeared in the same hand or both hands of a patient in various combinations. In animal experiments, these anomalies were induced when the same teratogenic factors acted on the embryos at the same developmental stage. The abnormal cleft formation without precedent cell death is an early change leading to central polydactyly, syndactyly, and cleft hand. These changes may be caused by localized inactivation of the apical ectodermal ridge in the central part of the hand plate by a teratogen. This reasoning suggests that these deformities should be classified into the same entity, which is abnormal induction of digital rays. Abnormal induction of digital rays may manifest as syndactyly, central polydactyly, and absence of central digital rays (cleft hand). Surgical treatment for each type of cleft hand is also described.

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References

  1. Barsky J. Cleft hand: classification, incidence, and treatments. J Bone Joint Surg. 1964;46A:1707–20.

    Article  Google Scholar 

  2. Blauth W, Gekeler J. Symbrachydaktylien; Beitrag zur Morphologie, Klassifikation und Therapie. Handchirurgie. 1973;5:121–74. (in German).

    CAS  PubMed  Google Scholar 

  3. Ogino T, Minami A, Kato H. Clinical features and roentgenograms of symbrachydactyly. J Hand Surg. 1989;14B:303–6.

    Article  Google Scholar 

  4. Manske PR. Symbrachydactyly instead of atypical cleft hand. Plast Reconstr Surg. 1993;91:196.

    Article  CAS  PubMed  Google Scholar 

  5. Birch-Jensen A. Congenital deformities of the upper extremities. Ejnar Munksgaart: Copenhagen; 1949.

    Google Scholar 

  6. Flatt AE. The care of congenital hand anomalies. St. Louis: CV Mosby; 1977. p. 50.

    Google Scholar 

  7. Ogino T, Minami A, Fukuda K, Kato H. Congenital anomalies of the upper limb among the Japanese in Sapporo. J Hand Surg. 1986;11B:364–71.

    Article  Google Scholar 

  8. Temtamy SA, McKusick V. The genetics of hand malformations. New York: Alan R Liss; 1978. p. 53.

    Google Scholar 

  9. Vogel IF. Verzogerte mutation bei menschen? Ann Hum Genet. 1957/1958;22:132 (in German).

    Google Scholar 

  10. Duijf PHG, van Bokhoven H, Brunner HG. Pathogenesis of split-hand/split-foot malformation. Hum Mol Genet. 2003;12:51–60.

    Article  CAS  Google Scholar 

  11. Elliott AM, Evans JA. Genotype-phenotype correlations in mapped split hand foot malformation (SHFM) patients. Am J Med Genet. 2006;140A:1419–27.

    Article  Google Scholar 

  12. Elliott AM, Reed MH, Roscioli T, Evans JA. Discrepancies in upper and lower limb patterning in split hand foot malformation. Clin Genet. 2005;68:408–23.

    Article  CAS  PubMed  Google Scholar 

  13. Scherer SW, Poorkaj P, Massa H, Soder S, Allen T, Nunes M, et al. Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly. Hum Mol Genet. 1994;3:1345–54.

    Article  CAS  PubMed  Google Scholar 

  14. Basel D, Kilpatrick MW, Tsipouras P. Research review. The expanding panorama of split hand foot malformation. Am J Med Genet. 2006;140A:1359–65.

    Article  CAS  Google Scholar 

  15. Swanson AB. A classification for congenital limb malformations. J Hand Surg. 1976;1A:8–22.

    Article  Google Scholar 

  16. Swanson AB, Swanson GG, Tada K. A classification for congenital limb malformations. J Hand Surg. 1983;8:693–702.

    Article  CAS  Google Scholar 

  17. Ogino T, Kato H. Clinical and experimental studies on ulnar ray deficiency. Handchir Mikrochir Plast Chir. 1988;20:330–7.

    CAS  PubMed  Google Scholar 

  18. Blauth W. Der hypoplastische Daumen. Arch Orthop Unfallchirur. 1967;62:225–46. (in German).

    Article  CAS  Google Scholar 

  19. Ogino T, Ishii S, Minami M, Usui M, Muramatsu I, Miyake A. Roentgenological and clinical analyses of cleft hand, polydactyly of the middle finger. Seikeigeka. 1977;28:1508–11. (in Japanese).

    Google Scholar 

  20. Ogino T. A clinical and experimental study on teratogenic mechanism of the cleft hand, polydactyly and syndactyly. Nihon Seikeigeka Gakkai Zasshi. 1979;53:535–43. (in Japanese).

    CAS  PubMed  Google Scholar 

  21. Manske PR. Cleft hand and central polydactyly in identical twins: a case report. J Hand Surg. 1983;8A:906–8.

    Article  Google Scholar 

  22. Satake H, Ogino T, Takahara M, Kikuchi N, Muramatsu I, Muragaki Y, et al. Occurrence of central polydactyly, syndactyly, and cleft hand in a single family: report of five hands in three cases. J Hand Surg. 2009;34A:1700–3.

    Article  Google Scholar 

  23. Miura T. Syndactyly and split hand. Hand. 1976;8:125–30.

    Article  CAS  PubMed  Google Scholar 

  24. Müller W. Die angeborenen Fehlbildungen der menschlechen Hand. Liepzig: Georg Thieme; 1937. (in German).

    Google Scholar 

  25. Jones NF, Kono N. Cleft hands with six metacarpals. J Hand Surg. 2004;29A:720–6.

    Article  Google Scholar 

  26. Egawa T, Horiki A, Senrui H, Tada K. Characteristic anatomical findings of the cleft hand—its significance and classification. Handchirurgie. 1978;10:3–8. (in German).

    CAS  PubMed  Google Scholar 

  27. Watari S, Tsuge K. A classification of cleft hands, based on clinical findings. Plast Reconstr Surg. 1979;64:381–9.

    Article  CAS  PubMed  Google Scholar 

  28. Ogino T. Teratogenic relation between central polydactyly, osseous syndactyly and cleft hand. J Hand Surg. 1990;15B:201–9.

    Article  Google Scholar 

  29. Ogino T. Clinical features and teratogenic mechanisms of congenital absence of digits. Develop Growth Differ. 2007;49:523–31.

    Article  Google Scholar 

  30. Kato H, Ogino T, Minami A, Ohshio I. Experimental study on radial ray deficiency. J Hand Surg. 1990;15B:470–6.

    Article  Google Scholar 

  31. Ogino T, Kato H. Histological analysis of myleran induced oligodactyly of longitudinal deficiency in rats. Handchirurgie. 1988;20:271–4.

    CAS  Google Scholar 

  32. Ogino T, Kato H. Clinical and experimental studies on teratogenic mechanisms of congenital absence of digits in longitudinal deficiencies. Congenit Anom. 1993;33:187–96.

    Article  Google Scholar 

  33. Otsuji M, Takahara M, Naruse T, Guan D, Harada M, Zhe P, et al. Developmental abnormalities in rat embryos leading to tibial ray deficiencies induced by busulfan. Birth Defects Res A Clin Mol Teratol. 2005;73:461–7.

    Article  CAS  PubMed  Google Scholar 

  34. Naruse T, Takahara M, Takagi M, Ogino T. Early morphological changes leading to central polydactyly, syndactyly, and central deficiencies: an experimental study in rats. J Hand Surg. 2007;32A:1413–7.

    Article  Google Scholar 

  35. Ogino T. Teratogenic mechanisms of congenital absence of digits. Locomotor System Adv Res Diagn Ther. 2011;18:173–93.

    Google Scholar 

  36. Naruse T, Takahara M, Takagi M, Oberg KC, Ogino T. Busulfan-induced central polydactyly, syndactyly and cleft hand or foot: a common mechanism of disruption leads to divergent phenotypes. Develop Growth Differ. 2007;49:533–41.

    Article  Google Scholar 

  37. Ianakiev P, Kilpatrick MW, Toudjarska I, Basel D, Beighton P, Tsipouras P. Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27. Am J Hum Genet. 2000;67:59–66.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  38. Ogino T. Congenital anomalies of the upper limb in our clinic—an application of modified Swanson’s classification. J Jpn Soc Surg Hand. 1986;2:909–16. (in Japanese).

    Google Scholar 

  39. Ogino T. Current classification of congenital hand deformities based on experimental research. In: Saffar P, Amadio CP, Foucher G, editors. Current practice in hand surgery. London: Martin Dunitz; 1997. p. 337–41.

    Google Scholar 

  40. Muragaki T, Mundlos S, Upton J, Olsen BR. Altered growth and branching pattern in synpolydactyly caused by mutations in HOXD 13. Science. 1996;272:548–51.

    Article  CAS  PubMed  Google Scholar 

  41. Debeer P, Bacchelli C, Scambler PJ, De Smet L, Fryns JP, Goodman FR. Severe digital abnormalities in a patient heterozygous for both a novel missense mutation in HOXD13 and a polyalanine tract expansion in HOXA13. J Med Genet. 2002;39:852–6.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  42. Kjaer KW, Hedeboe J, Bugge M, Hansen C, Friis-Henriksen K, Vestergaard MB, et al. HOXD13 polyalanine tract expansion in classical synpolydactyly type Vordingborg. Am J Med Genet. 2003;110:116–21.

    Article  Google Scholar 

  43. Congenital Hand Committee of the Japanese Society for Surgery of the Hand. Manual for classification of congenital hand anomalies. J Jpn Soc Surg Hand. 1996;13:455–67 (in Japanese).

    Google Scholar 

  44. Kantaputra PN, Carlson BM. Genetic regulatory pathways of splithand/foot malformation. Clin Genet. 2019;95(1):132e139.

    Article  CAS  Google Scholar 

  45. Restelli M, Lopardo T, Lo Iacono N, et al. DLX5, FGF8 and the Pin1 isomerase control DeltaNp63alpha protein stability during limb development: a regulatory loop at the basis of the SHFM and EEC congenital malformations. Hum Mol Genet. 2014;23(14):3830e3842.

    Article  CAS  Google Scholar 

  46. Sowinska-Seidler A, Socha M, Jamsheer A. Split-hand/foot malformation—molecular cause and implications in genetic counseling. J Appl Genet. 2014;55(1):105e115.

    Article  Google Scholar 

  47. Goldfarb CA, Ezaki M, Wall LB, Lam WL, Oberg KC. The Oberg-Manske-Tonkin (OMT) classification of congenital upper extremities: update for 2020 [published online ahead of print, 2020 Feb 21]. J Hand Surg Am. 2020;S0363-5023(20):30007–1. https://doi.org/10.1016/j.jhsa.2020.01.002.

    Article  Google Scholar 

  48. Blauth W, Falliner AA. Zur Morphologie und Klassifikation von Spalthanden. Handchirurgie. 1986;18:161–95.

    CAS  Google Scholar 

  49. Saito H, Seki T, Suzuki Y, Fujino K. Operative treatments for various types of the cleft hand. Seikeigeka. 1978;29:1551–3. (in Japanese)

    Google Scholar 

  50. Ogino T. Cleft hand. Hand Clin. 1990;6:661–71.

    CAS  PubMed  Google Scholar 

  51. Kato S, Ishii S, Ogino T, Shiono H. Anomalous hands with cleft formation between the fourth and fifth digits. J Hand Surg. 1983;8:909–13.

    Article  CAS  Google Scholar 

  52. Tonkin MA, Nanchahal J, Kwa S. Ulnar-sided cleft hand. J Hand Surg. 2002;27A:493–7.

    Article  Google Scholar 

  53. Langer JS, Manske PR, Steffen JA, Hu C, Goldfarb C. Thumb in the plane of the hand: characterization and results of surgical treatment. J Hand Surg. 2009;34A:1795–801.

    Article  Google Scholar 

  54. Manske PR, Halikis MN. Surgical classification of central deficiency according to the thumb web. J Hand Surg. 1995;20A:687–97.

    Article  Google Scholar 

  55. Wassel HD. The result of surgery for polydactyly of the thumb, a review. Clin Orthop Relat Res. 1969;64:175–93.

    CAS  PubMed  Google Scholar 

  56. Falliner AA. Analysis of anatomic variations in cleft hands. J Hand Surg. 2004;29A:994–1001.

    Article  Google Scholar 

  57. Kikuchi N, Ogino T, Takahara M, Ito K, Kato Y. Cleft of the 4th web space of the hand without finger defect. J Jpn Soc Surg Hand. 2005;22:635–8. (in Japanese).

    Google Scholar 

  58. Schinzel A. Ulnar-mammary syndrome. J Med Genet. 1987;24:778–81.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  59. Ogino T, Minami A, Fukuda K, Nakazato T, Sakuma T, Kato H. Cleft hand complex with mirocheiria. J Jpn Soc Surg Hand. 1986;3:847–52. (in Japanese).

    Google Scholar 

  60. Buck-Gramcko D, Ogino T. Congenital malformation of the hand: non-classifiable cases. Hand Surg. 1996;1:45–61.

    Article  Google Scholar 

  61. Küster W, Majewski F, Meinecke P. EEC syndrome without ectrodactyly? Clin Genet. 1985;28:130–5.

    Article  PubMed  Google Scholar 

  62. Rüdiger RA, Haase W, Passarge E. Association of ectrodactyly, ectodermal dysplasia and cleft lip-palate. Am J Dis Child. 1970;120:160–3.

    Article  PubMed  Google Scholar 

  63. Rodini ESO, Richieri-Costa A. EEC syndrome: report on 20 new patients, clinical and genetic considerations. Am J Med Genet. 1990;37:42–53.

    Article  CAS  PubMed  Google Scholar 

  64. Christodoulou J, McDougall P, Sheffield LJ. Choanal atresia as a feature of ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome. J Med Genet. 1989;26:576–89.

    Article  Google Scholar 

  65. Fryns JP, Legius E, Dereymaeker AM, Van den Berghe H. EEC syndrome without ectrodactyly: report of two new families. J Med Genet. 1990;27:165–8.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  66. Majewski F, Küster W. EEC syndrome sine sine? Clin Genet. 1988;33:69–72.

    Article  CAS  PubMed  Google Scholar 

  67. van Bokhoven H, Hamel BCJ, Bamshad M, Sangiorgi E, Gurrieri F, Duijf PH, et al. p63 gene mutations in EEC syndrome, limb–mammary syndrome, and isolated split hand split foot malformation suggest a genotype-phenotype correlation. Am J Hum Genet. 2001;69:481–92.

    Article  PubMed  PubMed Central  Google Scholar 

  68. Vickers D. Clinodactyly of the little finger: a simple operative technique for reversal of the growth abnormality. J Hand Surg. 1987;12-B:335–42.

    Article  Google Scholar 

  69. Kelikian H. Split hand complex. In: Congenital deformities of the hand and forearm. Philadelphia: WB Saunders Company; 1974. p. 467–95.

    Google Scholar 

  70. Tsuge K, Sanada Y, Yamamoto M. Treatment of cleft hand. Seikeigeka. 1965;16:854–6. (in Japanese).

    Google Scholar 

  71. Al-Qattan MM, Robertson GA. An anatomical study of the deep transverse metacarpal ligament. J Anat. 1993;182:443–6.

    PubMed  PubMed Central  Google Scholar 

  72. Takahashi M, Yabe Y. Treatment for cleft hand with syndactyly; a case report of a new skin incision. Seikeigeka. 1978;29:1554–7. (in Japanese).

    Google Scholar 

  73. Miura T, Komada T. Simple method for reconstruction of the cleft hand with an adducted thumb. Plast Reconstr Surg. 1979;64:65–7.

    Article  CAS  PubMed  Google Scholar 

  74. Ueba Y. Plastic surgery for the cleft hand. J Hand Surg. 1981;6A:557–60.

    Article  Google Scholar 

  75. Ueba Y. Cleft hand. In: Buck-Gramcko D, editor. Congenital malformation of the hand and forearm. London: Churchill Livingstone; 1998. p. 199–215.

    Google Scholar 

  76. Upton J, Taghinia AH. Correction of the typical cleft hand. J Hand Surg. 2010;35A:480–5.

    Article  Google Scholar 

  77. Foucher G, Lorea P, Hovius S, Pivato G, Medina J. Radial shift of the ulnar fingers: a new technique for special cases of longitudinal central deficiency. J Hand Surg. 2006;31:156–61.

    Article  Google Scholar 

  78. Buck-Gramcko D. Cleft hands: classification and treatment. Hand Clin. 1985;1:467–73.

    CAS  PubMed  Google Scholar 

  79. Rider MA, Grindel SI, Tonkin MA, Wood VE. An experience of the Snow-Littler procedure. J Hand Surg. 2000;25B:376–81.

    Article  Google Scholar 

  80. Ogino T, Ishii S, Kato H. Opposable triphalangeal thumb, clinical features and results of treatment. J Hand Surg. 1994;19-A:39–47.

    Article  Google Scholar 

  81. Zancolli EA. Structure and dynamic bases of hand surgery. 2nd ed. Philadelphia: JB Lippincott; 1978.

    Google Scholar 

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Acknowledgments

I wish to thank Hiroyuki Kato, MD, Takuji Naruse, MD, and Miwako Ohtuji, MD, who worked hard to do animal experiments, and also to my wife, Tomoko Ogino, who supported all my studies for the past 40 years.

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  1. Hokushin-Higashi Hospital, Sapporo Hand Surgery and Congenital Hand Differences Center, Sapporo, Hokkaido, Japan

    Toshihiko Ogino

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  1. Toshihiko Ogino
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Correspondence to Toshihiko Ogino .

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  1. Colchester, VT, USA

    Donald R. Laub Jr.

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Ogino, T. (2021). Central Deficiency (Cleft Hand). In: Laub Jr., D.R. (eds) Congenital Anomalies of the Upper Extremity. Springer, Cham. https://doi.org/10.1007/978-3-030-64159-7_16

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