“Mucopolysaccharidosis, generally referred to as mucopolysaccharide storage disease, is a rare inherited metabolic disorder. It is a group of diseases caused by a deficiency of mucopolysaccharide-degrading enzymes, which prevents the complete degradation of acidic mucopolysaccharides and leads to the accumulation of mucopolysaccharides in different tissues of the body, resulting in a series of clinical symptoms and signs, such as bone deformities, mental retardation, and enlargement of the liver and spleen. Mucopolysaccharidosis is mainly caused by gene mutations in the enzyme that codes for the degradation of mucopolysaccharides. The incidence of the disease is relatively low and rare, and children with a family history of mucopolysaccharidosis or inbred parents are susceptible to the disease. Patients with Mucopolysaccharidosis have no obvious symptoms at birth, but often develop symptoms at around 1 year of age and gradually worsen with age. The main symptoms are rough and ugly face, bone and joint deformities, short stature, kyphosis or scoliosis of the spine, backward intellectual development, vision loss, clouding of the cornea, hearing abnormality and even deafness. Avoiding consanguineous marriages, genetic testing and prenatal diagnosis in families with a family history of the disease can reduce the incidence of the disease. Patients with mucopolysaccharide storage disease need to be seen by a doctor.