Hypophosphatemic rickets is a rare genetic bone disease with various inheritance patterns, including X-linked dominant (XLH), autosomal dominant and autosomal recessive inheritance, and its development is associated with mutations in the PHEX, FGF23 and DMP1/ENPP1 genes, respectively. XLH is the most common type of hypophosphatemic rickets, with a prevalence of 1/20,000 in the population. It is a monogenic genetic disorder containing a pathogenic genotype, i.e., a phenotype, with a childhood onset and active rickets manifesting as skeletal deformities, attachment point lesions, short stature, abnormal dental development, and rickets after 2 years of age. Regular treatment is high-dose long-course active vitamin D and oral phosphate combination therapy. During treatment, regular follow-up should be performed and possible complications that may occur with treatment, such as renal calcium deposits, secondary or sporadic hyperparathyroidism, hypertension, and arterial hypertension, should be strictly monitored. Due to the complexity of the clinical manifestations of XLH, the misdiagnosis rate is high, especially in children with rickets after 2 years of age, poor conventional treatment, and progressive worsening of skeletal deformities of the lower extremities, the disease should be considered.