Question

When parents suspect their child may have Down Syndrome, how should they proceed with diagnosis?

Answer

Down Syndrome, also known as Trisomy 21, is characterized by special facial features such as wide eye spacing, low nasal bridge, small eye slits, upward slanting eyes, epicanthal folds, small ears, a thick tongue often sticking out of the mouth, and excessive drooling. Additionally, short stature, a smaller head circumference than normal, and a short forehead to back circumference are common. Hand characteristics and intellectual disability are also typical of the condition. Chromosome karyotyping is usually required for diagnosing Down Syndrome and is the most reliable method. It is recommended that parents take their child to a regular hospital for a detailed examination to obtain an accurate diagnosis.