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Down Syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of an extra copy of chromosome 21.This additional genetic material alters the course of development and results in the physical and intellectual characteristics associated with the condition.

Down Syndrome is one of the most common chromosomal abnormalities, affecting approximately 1 in every 700 babies born worldwide. Individuals with Down Syndrome often exhibit distinct facial features, such as a flat facial profile, upward-slanting eyes, small ears, and a protruding tongue.

Down syndrome

Down syndrome is a genetic disorder caused by the presence of an extra copy of chromosome 21, also known as trisomy 21. This condition leads to a range of developmental and physical characteristics.

  • Genetics:

    Down syndrome occurs when an individual has three copies of chromosome 21 instead of the usual two. This extra genetic material affects development.

  • Physical Characteristics:

    Common physical traits include a flat facial profile, upward-slanting eyes, a small nose, and a single deep crease across the center of the palm. These traits can vary in severity among individuals.

Symptoms of Down syndrome:

down syndrome symptoms and causes

Physical Symptoms:

Facial Features:
    • Flat facial profile.
    • It is upward slanting eyes with a fold of skin on the inner corner (epicanthal fold).
    • Small nose and flattened nasal bridge.
    • Smallmouth and tongue that may stick out.
Body Characteristics
    • Short neck.
    • Small ears that may be set lower on the head.
    • Broad, short hands with a single crease across the palm (simian crease).
    • Short fingers and a small pinky finger that curves inward.
    • Short stature and relatively poor muscle tone (hypotonia).
Skeletal and Dental Issues:
    • Small hands and feet.
    • Widely separated first and second toes and increased skin creases.
    • Dental problems, including delayed tooth development and crooked teeth.

Developmental Symptoms:

Cognitive Delays:

    • Mild to moderate intellectual disability
    • Delays in speech and language development
    • Delayed motor development, such as sitting, crawling, and walking

Behavioral Characteristics:

    • Short attention span
    • Impulsivity and poor judgment
    • Slow learning and difficulty understanding abstract concepts

Health-Related Symptoms:

Heart Defects:
Hearing and Vision Problems:
    • Increased risk of hearing loss due to frequent ear infections
    • Vision problems such as cataracts, near-sightedness, and crossed eyes (strabismus)
Thyroid Disorders:
    • Hypothyroidism is common and requires regular monitoring and treatment.
Immune System Issues:
    • Increased susceptibility to infections
Gastrointestinal Problems:
    • Conditions such as constipation, gastroesophageal reflux, and celiac disease
Sleep Apnea:
    • Obstructive sleep apnea due to airway obstruction
Leukemia:
    • Higher risk of certain types of leukemia in childhood
Alzheimer’s Disease:

Conclusion

Down Syndrome results from an extra copy of chromosome 21, causing a variety of physical and intellectual characteristics. While individuals with Down Syndrome may face developmental delays and health challenges, advancements in medical care, early intervention, and inclusive practices have greatly enhanced their quality of life.

By Mehfooz Ali

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