Advances in the study of signaling pathways in Global developmental delay / Intellectual disability combined with congenital craniofacial malformation
10.3760/cma.j.cn511374-20240924-00505
- VernacularTitle:全面性发育迟缓/智力障碍合并先天性颅面部畸形的信号通路研究进展
- Author:
Yunshu JIANG
1
;
Xiaonan LI
1
Author Information
1. 南京医科大学附属儿童医院儿童保健科，南京 210008
- Publication Type:Journal Article
- Keywords:
Global Developmental Delay;
Intellectual Disability;
Craniofacial malformation;
Signaling pathway;
Gene
- From:
Chinese Journal of Medical Genetics
2025;42(2):249-256
- CountryChina
- Language:Chinese
-
Abstract:
Global developmental delay (GDD) and intellectual disability (ID) refer to deficits in cognitive and adaptive functioning that arise during the developmental period. GDD/ID is often accompanied by complex developmental abnormalities, with congenital craniofacial malformations being among the most common, such as craniosynostosis, cleft lip and palate, and congenital tooth agenesis. However, the underlying mechanisms of GDD/ID associated with congenital craniofacial malformations remain unclear. With the increasing number of reported genetic syndromes, genetic factors are emerging as key contributors to the concurrent abnormalities in brain and craniofacial development. Studies have identified Wnt, SHH, FGF, and BMP as classical regulatory molecules in craniofacial development, and their roles have also been closely linked to various stages of brain development. This review focuses on the regulatory roles of Wnt, SHH, FGF, and BMP signaling pathways in brain and craniofacial development, as well as the pathogenic mechanisms underlying their association with GDD/ID and craniofacial malformations. The aim is to provide new insights into the etiology of GDD/ID combined with congenital craniofacial malformations.
