The sunken cheeks on both sides are one of the causes of distress for slim people. If the sunken cheeks are obvious, the cheek arches are visible, both cheeks are collapsed, fine wrinkles are visible on the cheeks and corners of the mouth, the skin is dry, and the skin tone is yellowish and unattractive, much older than the actual age. What are the differential diagnoses associated with pronounced sunken cheeks? Aspartyl glucosaminuria is an autosomal recessive disorder caused by a deficiency of aspartyl aminoglucosidase in the body and is a type of lysosomal disease. It is characterized by mental retardation, coarse facial features, multiple bone dysplasia, vacuolation within lymphocytes in the peripheral blood, and absence of mucopolysaccharidosis. Most patients develop in early childhood, presenting with upper respiratory tract infections, skin infections and intestinal infections, and causing diarrhea. Intellectual and motor development is impaired, resulting in short stature, motor clumsiness, speech impairment, mental retardation, and a coarse, clumsy face with mucopolysaccharidosis type I-like features, manifested by markedly sunken cheeks, a collapsed nose, and a short neck. The wasting is usually progressive in the short term, with weight values measured before and after weight loss, and there is obvious circumstantial evidence of looser clothes, looser belts, larger shoes, and reduced subcutaneous fat, thin muscles, loose skin, and prominent bones. Marriage and fertility guidance can be carried out to improve the quality of the population and to try to reduce the incidence of genetic diseases in the population. The usual measures to avoid the birth of offspring with genetic diseases (i.e., practicing eugenics) and the occurrence of genetic mutations include premarital screening, genetic counseling, prenatal testing and early treatment of genetic diseases.