What is Down syndrome
Down syndrome is a common chromosomal abnormality caused by the presence of three copies of chromosome 21 (or part of chromosome 21). Therefore, Down syndrome is also called trisomy 21 syndrome. Because the genetic mutation for the disease occurs during sperm or egg formation, Down syndrome is not caused by intermarriage between relatives.
Five characteristics
Down syndrome usually manifests itself in five main ways. Below is a detailed description of these aspects.
Mental retardation
Mental retardation is common in people with Down syndrome. This is because they have an extra copy of chromosome 21, which results in an excessive number of neurons in the brain, which affects their information processing and basic cognitive abilities.
Facial features
People with Down syndrome have distinct facial features. Their faces are flat, their eyes are turned in, their noses are short, their lips are thick, and their ears are small and located on the sides of their heads. These characteristics can sometimes help doctors diagnose the disease prenatally or at birth.
Short stature
People with Down syndrome have short stature, especially short bodies with bulging chests and relatively small hands and feet. This body feature is difficult to identify except with the help of a doctor using specific measuring tools.
Cardiovascular symptoms
People with Down syndrome often suffer from a variety of cardiovascular abnormalities. About half of patients have a missing heart septum. Blood vessels in the body may also develop abnormalities in shape, location, and structure, including artery narrowing or aneurysms.
Digestive problems and hearing impairment
People with Down syndrome may have problems with digestion, including intestinal or stomach problems such as indigestion or gastroesophageal reflux disease. They may also have hearing impairment, resulting in speech and developmental disabilities.
Treatment of Down syndrome
Down syndrome is currently incurable. However, patients can improve their quality of life and life expectancy with early intervention and treatment. This includes targeted physical exercise, lifestyle modifications, speech therapy, and appropriate diet and medication for digestive problems. Cardiovascular problems may require surgery.
Conclusion
Down syndrome is a common chromosomal abnormality caused by the presence of three copies of chromosome 21. The patient showed five characteristics including mental retardation, facial features, short stature, cardiovascular symptoms, digestive problems and hearing impairment. There is currently no cure for Down syndrome, but targeted intervention and treatment can help improve patients\’ quality of life and life expectancy.
