Understanding Down Syndrome: Symptoms, Causes, and Treatment

Understanding Syndrome

What is Down Syndrome?

Down syndrome is a genetic disorder that occurs when a person is born with an extra copy of chromosome 21, or a full or partial extra copy of this chromosome. It is the most common chromosomal disorder, affecting around 1 in every 700 babies born in the United States. People who have Down syndrome have physical and cognitive abilities that range from mild to moderate intellectual disabilities and often come with health and developmental delays.

Signs of Down Syndrome

The most common signs of Down syndrome include:

  • Low muscle tone
  • Short stature
  • Flattened facial features
  • Upward slanting eyes
  • Increased space between the first and second toes.

People with Down syndrome may also have hearing loss, vision problems, heart defects, and a higher risk of respiratory and digestive issues.

Causes of Down Syndrome

Down syndrome occurs when an extra copy of chromosome 21 or parts of it are present in every cell in a person’s body. This is known as trisomy 21. It’s caused by a random error in cell division, called nondisjunction, and is not related to anything a parent did or did not do. In rare cases, Down syndrome can result from a mutation in only some of the body’s cells.

Treatment and Health Care For People With Down Syndrome

People with Down syndrome may benefit from specialized therapies, treatments and health care. Early intervention can help children with Down syndrome reach their full potential. Appropriate treatments and care for people with Down syndrome can include:

  • Physical therapy to improve muscle strength, endurance and coordination.
  • Speech and language therapy to help communication and spoken language.
  • Occupational therapy to improve daily living skills.
  • Educational supports to maximize learning and development.
  • Medical care to manage associated conditions like vision and hearing impairment, heart defects, and digestive and respiratory issues.
  • Mental health evaluations to assess for any mood disorders and learning problems.
  • Nutrition planning to provide the best diet for development and optimal health.


Down syndrome is a disorder that affects every individual differently. Generally, people with Down syndrome have physical and cognitive disabilities and often experience some degree of developmental delays. The causes of Down syndrome are related to an extra copy of chromosome 21 or a partial or full extra copy of this chromosome. Treatment and care plans for Down syndrome can involve a variety of therapies, interventions, and medical careand may help individuals to reach their full potential.

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