What is Down syndrome?
Down syndrome is a life-long condition causing physical defects, intellectual impairment, developmental delays and behavioural problems due to a genetic anomaly called trisomy. We usually have 23 pairs of chromosomes, i.e. 46 chromosomes. Each carries specific information about our traits and characteristics. Down syndrome comprises an extra copy of the 21 chromosomes. So, the total number of chromosomes becomes 47. This extra chromosome contributes to the defects. The syndrome affects vary from mild to severe.
What Are the Signs?
Children with Down syndrome have distinct physical features that help in identification. However, the features may not be prominent enough in mild Down syndrome. Some features you may notice are:
Physical Areas
- Flat nasal bridge
- Small head
- Short neck
- Protruding tongue and broad palate
- Short stocky physique with small fingers
- Hyper flexibility
- Muscular hypertonia
- Ring of iris speckles – Brush field’s spots.
Intellectual
- Cognitive disability
- Language delay
- Impaired memory