What is Down syndrome?

Jul 09, 2025 Source: Cainiu Health
Dr. Zhou Xiaofeng
Introduction
Down syndrome is a congenital disorder caused by chromosomal abnormalities. It is caused by an extra copy of chromosome 21 and belongs to the category of chromosomal number abnormalities. Patients typically exhibit distinctive facial features, such as wide-set eyes and a flattened nasal bridge, along with intellectual developmental delays. Some individuals may also have malformations of organs such as the heart, and their ability to perform activities of daily living is affected to varying degrees.

Generally, Down syndrome is a congenital disease caused by chromosomal abnormalities. If abnormalities are detected, timely medical consultation is recommended. Detailed analysis is as follows:

Down syndrome is caused by an extra copy of chromosome 21, and belongs to chromosomal number abnormality disorders. Patients may display characteristic facial features such as wide-set eyes and a flattened nasal bridge, along with intellectual developmental delays. Some individuals may also have heart or other organ malformations, and their ability to perform daily living activities can be affected to varying degrees.

The causes of Down syndrome are related to factors such as heredity and maternal age. The older the pregnant woman, the higher the risk of the fetus being affected. In some cases, chromosomal abnormalities may result from hereditary factors, leading to the disorder. Such chromosomal abnormalities cannot be corrected by medication or other means and are considered congenital and irreversible.

Pregnant women should undergo Down syndrome screening during pregnancy. After a confirmed diagnosis, decisions can be made based on individual circumstances. Children born with the condition require long-term rehabilitation training to help improve their daily living abilities.