As a basic mechanism of cell function, mechanical transduction plays a key role in human growth and development, physiological and pathological processes.And its molecular mechanism has always been a research hotspot.In recent years, Piezo2 has been identified as a mechanically sensitive cationic channel, which serves as an important component of mechanical transduction participating in regulating and maintaining of respiratory rhythm, bowel movement, cartilage stress, tactile sense and multiple other physiological processes.PIEZO2-related diseases have been reported in recent years before which are characterized by distal joint contracture, scoliosis, low muscular tension, and delayed motor development.In this review, we summarizes the clinical phenotype and progress in diagnosis and possible treatment of PIEZO2-related diseases, hoping to improve the recognition of this disease which is essential for long-term management of patients, and provide ideas for the gene research and development of drug targets.