Department of Pediatrics, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia.
Medicine (Baltimore). 2022 Dec 16;101(50):e32060. doi: 10.1097/MD.0000000000032060.
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 genetics-enhanced understanding of polydactyly.
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. Pre-axial 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.
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.
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.
Polydactyly is one of the most frequent congenital hand malformations. PAP is more common than PPD, whereas central polydactyly is very uncommon.
本研究收集了关于综合征性和非综合征性多指症遗传基础的已知信息，并强调了具有未知遗传根源的多指症表现。本综述总结了多指症的当前信息和遗传增强理解。
多指症（也称为多指畸形）的发病率为每 1000 例活产儿中有 0.37 至 1.2 例，其特征是存在额外的手指。多指症是由肢体发育失败引起的，特别是发育中的肢体芽的模式形成失败。多指症的表型和遗传变异性使其病因难以理解。前轴多指症、中央多指症（轴性）和后轴多指症都是非综合征性多指症（尺侧）的例子。常染色体显性遗传病，外显率不同，主要通过肢体发育模式异常遗传。
对 MEDLINE/PubMed 和其他数据库进行全面检索，然后对相关论文进行评估，特别关注 2000 年至 2022 年期间发表的论文。
从 MEDLINE/PubMed 搜索中与多指症相关的 747 篇已发表文章中，有 43 篇来自过去 10 年，是本综述的重点。
多指症是最常见的先天性手部畸形之一。PAP 比 PPD 更常见，而中央多指症则非常罕见。
