This situation was described as “superfluous fingers” in the 16th century by Ambrose Parey ( Bell, 1953). Polydactyly or polydactylism refers to the occurrence of supernumerary digits, toes or any complex duplication of digital parts. The term polydactyly, “poly means many and dactylos means digits” is acknowledged to the 17th century Kerchring (1988). This review provides an overview of the complex genetic mechanism underlie polydactyly and might help in genetic counseling and quick molecular diagnosis. In the present review, clinical, genetic and molecular characterization of the polydactyly types has been presented including the recent genes and loci identified for non-syndromic polydactyly. In humans, to-date at least 10 loci and six genes causing non-syndromic polydactyly have been identified, including the ZNF141, GLI3, MIPOL1, IQCE, PITX1, and the GLI1. Mostly inherited as an autosomal dominant entity with variable penetrance and caused by defects that occur in the anterior-posterior patterning of limb development. preaxial polydactyly (radial), central polydactyly (axial), and postaxial polydactyly (ulnar). Broadly, the non-syndromic polydactyly has been classified into three types, i.e. Polydactyly, also known as hyperdactyly or hexadactyly is the most common hereditary limb anomaly characterized by extra fingers or toes, with various associated morphologic phenotypes as part of a syndrome (syndromic polydactyly) or may occur as a separate event (non-syndromic polydactyly). 2Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.1Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.Muhammad Umair 1*, Farooq Ahmad 1, Muhammad Bilal 1, Wasim Ahmad 1 and Majid Alfadhel 2
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