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Down syndrome is a genetic condition caused by an extra copy of chromosome 21, also called trisomy 21. It affects physical development, cognitive abilities, and overall health, occurring in about 1 in 700 births.
Key Features:
Physical Traits: Flattened face, upward-slanting eyes, small ears, short neck, low muscle tone, and a single deep palm crease.
Cognitive Impact: Mild to moderate intellectual disability, delayed speech, and motor skills.
Health Concerns: Heart defects, hearing/vision issues, thyroid disorders, and increased risk of infections and Alzheimer’s disease.
Causes:
It’s primarily due to a cell division error called nondisjunction, leading to an extra chromosome 21. Less commonly, it results from mosaicism or translocation.
Diagnosis:
Prenatal: Blood tests, ultrasounds, CVS, or amniocentesis.
Postnatal: Physical signs and chromosome analysis.
Management:
Early intervention with therapies (speech, physical, occupational), medical care, and inclusive education can help individuals thrive. Many lead fulfilling lives, participating in work and community activities with the right support