Advances in short stature induced by ACAN gene variation in children

VernacularTitle:ACAN基因变异致儿童身材矮小的研究进展
Author: Yuying ZHU ¹ ; Bo BAN ; Qianqian ZHAO ; Mei ZHANG
Author Information

1. 济宁医学院　272067
Keywords: Short stature; ACAN gene; Bone growth and development; Gene
From: International Journal of Pediatrics 2025;52(2):107-111
CountryChina
Language:Chinese
Abstract: Bone growth and development is a major determinant of height.Height development in children is the result of the proliferation and endochondral ossification of growth plate chondrocytes located at the ends of long bones and vertebrae.Short stature，also known as dwarfism，means that a child's height is less than two standard deviations of the normal interval for children of the same race，region，and sex，or below the 3rd percentile of the normal child growth curve，which is a common problem in pediatric endocrinology.A variety of physiological regulatory pathways involving growth plate and long bone development have been reported，and related gene defects may be the key mechanisms leading to growth disorders and abnormal skeletal development in children.The ACAN gene，which is associated with osteochondral dysplasia，has garnered widespread attention from numerous scholars in recent years.This article reviews the genetic etiology，clinical phenotype，treatment and management of short stature caused by ACAN gene mutation in children.