It is one of the most common hereditary deformities, occurring in 1 in 2000 live births, and has twice the occurrence in males than in females. ![]() Syndactyly, devised from the Greek word ‘syn’ meaning ‘together,’ and ‘dactyly’ meaning ‘digits’, is a congenital malformation, where there is failure of separation (aberrant webbing) between adjacent digits during embryological limb formation. The aim of the review is to better understand the developmental process leading to this condition. Additionally, the controversies regarding the current syndactyly classification and the effect of non-coding elements are evaluated, which to our knowledge has not been previously highlighted. This review discusses the interactions repressing ICD in syndactyly, and characterizes genes associated with non-syndromic and selected syndromes involving syndactyly, according to the best studied canonical WNT-BMP-FGF interactions in humans. The current diagnosis is based on a clinical evaluation followed by radiography when indicated, and surgical release of digits at 6 months of age is recommended. Animal studies have displayed other pathways such as the Notch signaling, metalloprotease and non-canonical WNT-Planar cell polarity (PCP), to also contribute to failure of ICD, although less prominence has been given. The best studied canonical interactions of Wingless‐type–Bone Morphogenic Protein–Fibroblast Growth Factor (WNT–BMP–FGF8), plays a role in the interdigital cell death (ICD) which is thought to be repressed in human syndactyly. ![]() ![]() Currently, there is a paucity of knowledge regarding the exact developmental mechanism leading to this condition. During embryogenesis, disturbance of genetic pathways in limb development could result in syndactyly a common congenital malformation consisting of webbing in adjacent digits. The formation of the digits is a tightly regulated process.
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