What is Down syndrome?
Disease description:
I am a 28-year-old woman planning to have a baby. I would like to know, what is Down syndrome?
Doctor's answer (1)
Dr. Zhou Xiaofeng
Down syndrome, also known as trisomy 21, is a common chromosomal abnormality caused by the presence of an extra copy of chromosome 21. Normally, humans have 46 chromosomes, while individuals with Down syndrome have 47, due to the additional full or partial copy of chromosome 21. This leads to abnormalities in physical and intellectual development. The main clinical features of this condition include:
1. Characteristic facial features: Newborns typically exhibit distinctive facial characteristics at birth, such as widely spaced eyes and a flattened nasal bridge.
2. Intellectual disability: This is the most prominent and severe manifestation of the condition, becoming increasingly apparent with age.
3. Growth and developmental delays: Short stature, delayed bone age compared to chronological age, and delayed and abnormally sequenced tooth eruption are commonly observed.
4. Associated malformations: Approximately 50% of affected children have congenital heart defects, and gastrointestinal malformations may also occur.
Currently, there is no specific treatment for Down syndrome. Management primarily involves long-term education and training to improve the patient's quality of life. Preventive measures include pre-pregnancy checkups, avoiding exposure to harmful substances, and taking folic acid supplements.
