A review of polydactyly and its inheritance: Connecting the dots

Abstract

Objective: This study collects what is known about the inheritance underpinnings of syndromic and non-syndromic polydactylies and highlights dactyly presentations with unknown genetic roots. This review summarizes the current information and geneticsenhanced understanding of polydactyly.Background: There is a frequency of 0.37 to 1.2 per 1000 live births for polydactyly, which is also known as hyperdactyly. It is characterized by the presence of extra fingers. Polydactyly is caused by a failure in limb development, specifically the patterning of the developing limb bud. The phenotypic and genetic variability of polydactyly makes its etiology difficult to understand. Preaxial polydactyly, central polydactyly (axial), and postaxial polydactyly are all examples of non-syndromic polydactyly (ulnar). An autosomal dominant disorder with varying penetrance that is mostly passed down via limb development patterning abnormalities.Method: A comprehensive search of MEDLINE/PubMed and other databases was followed by an evaluation of the relevant papers, with a particular focus on those published between 2000 and 2022.Results: Of 747 published article related to Polydactyly from MEDLINE/PubMed search, 43 were from the last 10 years and were the focus of this review. Conclusion:Polydactyly is one of the most frequent congenital hand malformations. PAP is more common than PPD, whereas central polydactyly is very uncommon.

A case‐control study characterizing polydactyly risk factors in Bogotá and Cali, Colombia between 2002 and 2020

“…Numerous studies have elucidated the hereditary nature of PD, establishing a link between new PD cases and a family history within first‐degree relatives (Malik, 2014). Notably, the existing literature demonstrates that well‐characterized PD cases typically follow an autosomal dominant pattern of inheritance rather than an autosomal recessive pattern, as primarily observed in non‐syndromic postaxial PD (Bubshait, 2022; Comer et al, 2018). Consequently, it could be hypothesized that the relatively higher prevalence of PD, compared to other congenital musculoskeletal defects, may be partially attributed to its autosomal dominant nature (Comer et al, 2018).…”

Operative Management of Y-Shaped Metatarsal with Biphalangeal Sixth Toe

“…Other authors report that polydactyly in the lower limbs can be tibial, peroneal, or central. 6 In most cases, this malformation has little impact on the patient's ability to walk. Accordingly, there is no clear consensus on a treatment guideline for the malformation, including whether treatment is necessary.…”

“…There are different manifestations of polydactyly, 4 and it may be associated with other diseases or syndromes (Figure 1), including VACTERL (vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities) association, Fanconi anemia, and trisomy diseases (with associated abnormalities of the GLI3 and SHH genes) 3,5 . Several classifications of polydactyly have been described in the literature, some based on morphology and anatomy 6 and others, such as the classification by Lee et al, 7 founded on morphologic and radiographic appearance. Other authors report that polydactyly in the lower limbs can be tibial, peroneal, or central 6 …”

“…Several classifications of polydactyly have been described in the literature, some based on morphology and anatomy 6 and others, such as the classification by Lee et al, 7 founded on morphologic and radiographic appearance. Other authors report that polydactyly in the lower limbs can be tibial, peroneal, or central 6 …”

Polydactyly-Myopia Syndrome: Genetic and Ophthalmologic Perspectives

“…However, the underlying genetic mechanisms remain poorly understood, and further research is needed to elucidate the genetic basis of this syndrome [ 5 ]. Familial clustering of cases has been reported, suggesting an inherited component, but no specific gene or genetic locus has been definitively associated with the syndrome [ 6 ].…”