Review| Volume 75, ISSUE 11, P4054-4062, November 2022

Congenital difference of the hand and foot: Pediatric macrodactyly

  • Author Footnotes
    1 The authors Xiao Fang Shen and Konstantinos Gasteratos have contributed equally to the paper and are both first co-authors.
    Xiao Fang Shen
    1 The authors Xiao Fang Shen and Konstantinos Gasteratos have contributed equally to the paper and are both first co-authors.
    Soochow University, Suzhou 215000, Jiangsu Province, China

    Department of Orthopaedic Surgery, Children's Hospital of Soochow University, China
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  • Konstantinos Gasteratos
    Corresponding author.
    Graduate School of Molecular Medicine, Feinstein Institutes for Medical Research, Northwell Health, Manhasset, New York
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  • Georgia-Alexandra Spyropoulou
    Department of Plastic and Reconstructive Surgery, Papageorgiou General Hospital of Thessaloniki, Greece
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  • Fei Yin
    Department of Pediatric Orthopaedic Surgery, Wuxi Ninth People's Hospital, Affiliated to Soochow University, Wuxi 214062, Jiangsu Province, China
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  • Yong Jun Rui
    Corresponding author.
    Department of Hand Surgery, Wuxi Ninth People's Hospital, Affiliated to Soochow University, Wuxi, Jiangsu 214062, China
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  • Author Footnotes
    1 The authors Xiao Fang Shen and Konstantinos Gasteratos have contributed equally to the paper and are both first co-authors.



      Macrodactyly is a very rare congenital difference that affects hands and feet with significant developmental and psychological implications. Macrodactyly is attributed to a somatic mutation in PIK3CA, a component of the mTOR pathway-related overgrowth disorders. Other medical conditions have been associated with macrodactyly (e.g., neurofibromatosis and Proteus syndrome). A thorough investigation of the presence of these conditions should be undertaken by the multidisciplinary team.
      The aim of this study is to summarize the main clinical characteristics and associated conditions, with an emphasis on diagnosis and surgical treatment options.

      Materials and Methods

      We present several clinical cases after a retrospective chart review of macrodactyly cases and a comprehensive literature review.


      The indications for surgery include peripheral compressive neuropathies (e.g., carpal tunnel syndrome), grotesque enlargement interfering with function, psychosocial distress due to the deformity, and macrodystrophic lipomatosis with proximal upper limb involvement. The main surgical treatment options are categorized as follows: digit reduction (e.g., soft tissue debulking, skeletal shortening/ terminalization, Barsky procedure, and Tsuge technique), limitation of growth (digital nerve stripping and epiphysiodesis), and correction of deviation (wedge or angulation osteotomy, arthrodesis, Millesi procedure for thumb macrodactyly correction, toe-to-hand transfer, ray resection, and combination of bony reduction and soft tissue debulking).


      Macrodactyly correction requires surgical experience and an individualized approach. Treatment is primarily surgical; however, efforts are being made to delineate the root cause of macrodactyly and provide nonoperative management.


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