Achondroplasia (ACH) is a representative skeletal disorder characterized by rhizomelic shortened limbs and short stature. ACH is classified as belonging to the fibroblast growth factor receptor 3 (FGFR3) group. The downstream signal transduction of FGFR3 consists of STAT1 and RAS/RAF/MEK/ERK pathways. The mutant FGFR3 found in ACH is continuously phosphorylated and activates downstream signals, resulting in abnormal proliferation and differentiation of chondrocytes in the growth plate and cranial base synchondrosis. A patient registry has been developed and has contributed to revealing the natural history of ACH patients. Concerning the short stature, the adult height of ACH patients ranges between 126.7–135.2 cm for men and 119.9–125.5 cm for women in many countries. Along with severe short stature, foramen magnum stenosis and spinal canal stenosis are major complications: the former leads to sleep apnea, breathing disorders, myelopathy, hydrocephalus, and sudden death, and the latter causes pain in the extremities, numbness, muscle weakness, movement disorders, intermittent claudication, and bladder-rectal disorders. Growth hormone treatment is available for ACH only in Japan. However, the effect of the treatment on adult height is not satisfactory. Recently, the neutral endopeptidase-resistant CNP analogue vosoritide has been approved as a new drug for ACH. Additionally in development are a tyrosine kinase inhibitor, a soluble FGFR3, an antibody against FGFR3, meclizine, and the FGF2-aptamer. New drugs will bring a brighter future for patients with ACH.

软骨发育不全（ACH）是一种典型的骨骼疾病，其特征是四肢根茎缩短和身材矮小。 ACH 属于成纤维细胞生长因子受体 3 (FGFR3) 组。 FGFR3的下游信号转导由STAT1和RAS/RAF/MEK/ERK通路组成。 ACH中发现的突变FGFR3持续磷酸化并激活下游信号，导致生长板和颅底软骨联合中软骨细胞异常增殖和分化。患者登记系统已经建立，有助于揭示 ACH 患者的自然病史。关于身材矮小，在许多国家，ACH患者的成年身高范围为男性126.7-135.2厘米，女性119.9-125.5厘米。除了严重身材矮小之外，枕骨大孔狭窄和椎管狭窄也是主要并发症：前者导致睡眠呼吸暂停、呼吸障碍、脊髓病、脑积水和猝死，后者导致四肢疼痛、麻木、肌肉无力、行动不便。疾病、间歇性跛行和膀胱直肠疾病。生长激素治疗仅在日本适用于 ACH。然而，治疗对成年身高的效果并不理想。近日，抗中性肽链内切酶的CNP类似物vosoritide被批准为治疗ACH的新药。另外正在开发的还有酪氨酸激酶抑制剂、可溶性 FGFR3、抗 FGFR3 抗体、meclizine 和 FGF2 适体。新药将为 ACH 患者带来更加光明的未来。