What does a person with Down syndrome look like?
Jul 09, 2025
Source: Cainiu Health
Dr. Zhou Xiaofeng
Introduction
Hypertelorism refers to an abnormally increased distance between the eyes, with small and slanting palpebral fissures giving the eyes a narrow, upward-slanting appearance; a low, flat nasal bridge makes the nose appear flattened and underdeveloped, while small external ears are characterized by ear size below the normal range for age; mouth opening with tongue protrusion often results from a relatively large tongue combined with insufficient oral cavity space, and brachycephaly (short head length前后径) along with microcephaly (small head circumference) contributes to an overall short and round head shape.
Under normal circumstances, individuals with Down syndrome typically exhibit facial features including wide spacing between the eyes, small eye openings slanting upward, a flattened nasal bridge, small outer ears, frequent mouth opening with tongue protrusion, a short head length from front to back, and a smaller-than-normal head circumference. If concerns arise, it is recommended to seek medical advice in advance. Detailed analysis is as follows:
Wide spacing between the eyes means the distance between the two eyes is significantly greater than normal; small and upward slanting eye openings result in an elongated and upward-slanting eye shape; a flattened nasal bridge makes the nose appear flat and sunken; small outer ears refer to ears smaller than typical for the age group; mouth opening with tongue protrusion is often due to a relatively large tongue and insufficient oral space; a short head length from front to back along with a smaller head circumference gives the head a short and round appearance.
These characteristics are caused by developmental abnormalities resulting from chromosome 21 anomalies, affecting the growth proportions of facial bones and soft tissues. These facial features are clearly visible at birth and remain stable as the individual grows. Different patients may exhibit a more pronounced expression of one particular feature, but overall, they encompass multiple aspects mentioned above, collectively forming the typical facial appearance.
If similar facial features are observed, timely chromosome testing is necessary. Avoid making judgments based solely on physical appearance. Early intervention after diagnosis can help improve the patient's ability to manage daily living activities.
