DOWN SYNDROME

Down syndrome, also known as Trisomy 21, is a genetic condition that occurs when there is an extra copy of chromosome 21. This extra genetic material affects physical growth, intellectual development, and various health concerns.

Key Characteristics

1. Physical Features:

   • Distinctive facial features such as a flat facial profile, slanted eyes, and a short neck.
   • Smaller stature and shorter limbs compared to peers.
   • A single deep crease across the palm (simian line).

2. Cognitive Abilities:

   • Intellectual disability varies widely, typically ranging from mild to moderate.
   • Delays in speech and language development are common.

3. Developmental Milestones:

   • Delayed motor skills, including sitting, walking, and fine motor tasks.
   • Individual progress can vary significantly, with many achieving important milestones.

Health Concerns

Children with Down syndrome may face a variety of health issues, including:

1. Heart Defects: Congenital heart problems are common, requiring medical monitoring and possible surgical intervention.
2. Gastrointestinal Issues: Conditions such as duodenal atresia or Hirschsprung disease may occur.
3. Hearing and Vision Problems: Frequent ear infections and vision issues (like cataracts) are common.
4. Thyroid Problems: Hypothyroidism can occur, necessitating regular screening.
5. Increased Risk for Certain Conditions: Higher risk for conditions such as Alzheimer’s disease as they age.

Diagnosis

• Down syndrome can be diagnosed prenatally through screening tests (like blood tests and ultrasounds) and diagnostic tests (like amniocentesis or chorionic villus sampling).
• Postnatally, diagnosis is often based on physical features, confirmed through genetic testing.