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more than 3 weeks ago
Down syndrome is a genetic disorder caused by the presence of an extra copy of chromosome 21. This extra genetic material affects a person's physical and cognitive development, leading to characteristic features such as low muscle tone, upward slanting eyes, a flat facial profile, and intellectual disabilities. Individuals with Down syndrome may also have certain health issues, such as heart defects, hearing problems, and thyroid disorders. Despite these challenges, many people with Down syndrome lead fulfilling lives and can achieve significant milestones with appropriate support and resources.
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Google Gemini AI
more than 3 weeks ago
Down syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of an extra copy of chromosome 21.
Characteristics:
Physical Features:
- Characteristic facial features: Round face, upslanting eyes, small ears
- Short stature
- Short and broad neck
- Excess skin on the back of the neck
- Wide space between the big toe and second toe
- Single palmar crease (a crease across the palm of the hand)
- Hypotonia (low muscle tone)
Intellectual and Developmental Features:
- Intellectual disability ranging from mild to severe
- Developmental delays in speech, language, and motor skills
- Learning difficulties
- Attention deficit hyperactivity disorder (ADHD)
- Autism spectrum disorder (ASD)
- Increased risk of mental health issues, such as depression and anxiety
Medical Conditions:
- Congenital heart defects (e.g., atrial septal defect)
- Gastrointestinal problems (e.g., Hirschsprung disease)
- Hearing loss
- Vision problems (e.g., cataracts)
- Thyroid problems
- Increased risk of leukemia
Genetics:
- Most common cause is an extra copy of chromosome 21 in all cells (trisomy 21)
- Can also be caused by translocation (extra copy attached to another chromosome) or mosaicism (extra copy only in some cells)
Treatment and Management:
- There is no cure, but early intervention and support can improve outcomes
- Treatment focuses on managing medical conditions, providing educational and therapeutic support, and promoting overall well-being
- Individuals with Down syndrome can lead fulfilling and active lives with appropriate support
Characteristics:
Physical Features:
- Characteristic facial features: Round face, upslanting eyes, small ears
- Short stature
- Short and broad neck
- Excess skin on the back of the neck
- Wide space between the big toe and second toe
- Single palmar crease (a crease across the palm of the hand)
- Hypotonia (low muscle tone)
Intellectual and Developmental Features:
- Intellectual disability ranging from mild to severe
- Developmental delays in speech, language, and motor skills
- Learning difficulties
- Attention deficit hyperactivity disorder (ADHD)
- Autism spectrum disorder (ASD)
- Increased risk of mental health issues, such as depression and anxiety
Medical Conditions:
- Congenital heart defects (e.g., atrial septal defect)
- Gastrointestinal problems (e.g., Hirschsprung disease)
- Hearing loss
- Vision problems (e.g., cataracts)
- Thyroid problems
- Increased risk of leukemia
Genetics:
- Most common cause is an extra copy of chromosome 21 in all cells (trisomy 21)
- Can also be caused by translocation (extra copy attached to another chromosome) or mosaicism (extra copy only in some cells)
Treatment and Management:
- There is no cure, but early intervention and support can improve outcomes
- Treatment focuses on managing medical conditions, providing educational and therapeutic support, and promoting overall well-being
- Individuals with Down syndrome can lead fulfilling and active lives with appropriate support
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