Mingming is 3 years old. One day, he was playing with his dad in the park and accidentally fell down. When the child got up from the fall, he said, “Dad, why can’t I hear anything? Dad brought the child to the hospital to see the otology clinic, did a hearing examination and temporal bone CT examination, and finally diagnosed that the child is suffering from large vestibular aqueduct syndrome. This is an autosomal recessive disorder and is the most common type of inner ear malformation. Patients usually begin to develop the disease around the age of 1-3 years, so often when they are first born, hearing screening can be completely normal, and later on they behave in an all-or-nothing manner. However, there is a fluctuating, progressive hearing loss (i.e., it comes and goes and gets worse and worse), and in some cases, it may manifest itself as sudden deafness (hearing suddenly deteriorates within three days). If the hearing loss is mild in the early stages, it may not be easily recognized by the parents. The diagnosis can be confirmed on the basis of a high-resolution CT of the temporal bone. The disease should be considered when the diameter of the vestibular aqueduct is measured deeper than 1.5 mm on axial CT of the temporal bone. So, how do you detect it early in a child whose early hearing exams between the ages of 1-3 years do not reveal an abnormality? First of all, if parents, grandparents have a family history of the disease, we have to do genetic testing to check for hotspot mutation detection in the SLC26A4 gene, and secondly, we have to do imaging tests to check for temporal bone high-resolution CT.If the child is already found to have an abnormality in the hearing screening, bungee jumping, roller coasters and other sports have to be avoided. Avoiding colds, hard coughing, sneezing, and head banging in daily life is recommended. For parents of such a child, if they want a second child, it is important that the older child and the parents undergo genetic testing first, and then get pregnant after the results are available, and a prenatal diagnosis can be done 10 weeks after the pregnancy to avoid giving birth to a child with the same disease.