Craniofacial and limb defects are two of the most common congenital anomalies in the general population. Interestingly, these defects are not mutually exclusive. Many patients with craniofacial phenotypes, such as orofacial clefting and craniosynostosis, also present with limb defects, including polydactyly, syndactyly, brachydactyly, or ectrodactyly. The gene regulatory networks governing craniofacial and limb development initially seem distinct from one another, and yet these birth defects frequently occur together. Both developmental processes are highly conserved among vertebrates, and zebrafish have emerged as an advantageous model due to their high fecundity, relative ease of genetic manipulation, and transparency during development. Here we summarize studies that have used zebrafish models to study human syndromes that present with both craniofacial and limb phenotypes. We discuss the highly conserved processes of craniofacial and limb/fin development and describe recent zebrafish studies that have explored the function of genes associated with human syndromes with phenotypes in both structures. We attempt to identify commonalities between the two to help explain why craniofacial and limb anomalies often occur together.

中文翻译：

---

斑马鱼模型在理解颅面和四肢疾病同时发生方面的作用

颅面和四肢缺陷是一般人群中最常见的两种先天性异常。有趣的是，这些缺陷并不是相互排斥的。许多具有颅面表型的患者，例如口面部裂和颅缝早闭，也存在四肢缺陷，包括多指、并指、短指或外指。控制颅面和四肢发育的基因调控网络最初似乎彼此不同，但这些先天缺陷经常同时发生。这两种发育过程在脊椎动物中都高度保守，斑马鱼因其繁殖力高、基因操作相对容易以及发育过程透明而成为一种有利的模型。在这里，我们总结了使用斑马鱼模型来研究具有颅面和肢体表型的人类综合征的研究。我们讨论了颅面和四肢/鳍发育的高度保守的过程，并描述了最近的斑马鱼研究，这些研究探索了与人类综合征相关的基因的功能，在这两种结构中都有表型。我们试图找出两者之间的共性，以帮助解释为什么颅面和肢体异常经常同时发生。