Metabolic bone diseases are common in children and are a group of skeletal disorders caused by impaired phosphate reabsorption from the renal tubules due to primary or provoked causes, with significant phosphorus loss in the urine, resulting in decreased blood phosphorus and impaired bone mineralization. The most common mode of inheritance is X-linked dominant, with the causative gene being PHEX, which has a prevalence of 1:20,000 in live births and accounts for more than 80% of familial hypophosphatasia rickets. X-linked dominant inheritance means that the disease will develop if only one causative gene is carried. If a mother has the problem, her child has a 50% chance of inheriting the disease. If a boy has the problem, his child also has a 50% chance of having the disease. The incidence is equal for both sexes. The disease has a certain chance of being a spontaneous mutation, meaning that the PHEX gene is not abnormal in the parent’s blood, but the abnormality is detectable in the child’s blood. The disease is treatable and is more effective if treated early and regularly with regular monitoring of blood calcium and phosphorus metabolism indicators such as calcium, phosphorus, AKP, PTH, and 25-hydroxy-D3. It is important to pay attention to both underdose leading to poor treatment effect and to prevent hypercalcemia caused by too high dose of rogaine. The pediatric endocrinology department of the hospital is able to perform genetic diagnosis and prenatal diagnosis of the disease.