The Epidemiology, Genetics and Future Management of Syndactyly

D Jordan1, *, S Hindocha*, 1, 2, M Dhital3, M Saleh4, W Khan5
1 Department of Plastic Surgery, Countess of Chester Hospital, Liverpool Road Chester, CH21UL, UK
2 Department of Plastic Surgery, Whiston Hospital, Warrington Road, L35 5DR, Liverpool, UK
3 University of Nottingham, University Park, Nottingham, NG7 2RD, UK
4 Ain Shams University, Khalifa El-Maamon St, Abbasiya Sq, Cairo. 11566, Egypt
5 University College London Institute of Orthopaedics and Musculoskeletal Sciences, Royal National Orthopaedic Hospital, Stanmore, Middlesex, HA7 4LP, UK

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© Jordan et al.; Licensee Bentham Open.

open-access license: This is an open access article licensed under the terms of the Creative Commons Attribution Non-Commercial License ( which permits unrestricted, non-commercial use, distribution and reproduction in any medium, provided the work is properly cited.

* Address correspondence to this author at the Department of Plastic Surgery, Whiston Hospital, Warrington Road, L355DR, UK; Tel: 01244366265; Fax: 01244366265; E-mail:


Syndactyly is a condition well documented in current literature due to it being the most common congenital hand defect, with a large aesthetic and functional significance.

There are currently nine types of phenotypically diverse non-syndromic syndactyly, an increase since the original classification by Temtamy and McKusick(1978). Non-syndromic syndactyly is inherited as an autosomal dominant trait, although the more severe presenting types and sub types appear to have autosomal recessive and in some cases X-linked hereditary.

Gene research has found that these phenotypes appear to not only be one gene specific, although having individual localised loci, but dependant on a wide range of genes and subsequent signalling pathways involved in limb formation. The principal genes so far defined to be involved in congenital syndactyly concern mainly the Zone of Polarizing Activity and Shh pathway.

Research into the individual phenotypes appears to complicate classification as new genes are found both linked, and not linked, to each malformation. Consequently anatomical, phenotypical and genotypical classifications can be used, but are variable in significance, depending on the audience.

Currently, management is surgical, with a technique unchanged for several decades, although future development will hopefully bring alternatives in both earlier diagnosis and gene manipulation for therapy.

Keywords: Congenital, genetics, human, limb deformity, pathology, syndactyly.