Down syndrome is a genetic condition. A partial copy of chromosome 21 is produced due to faulty cell division; this excess genetic material brings down the syndrome’s physical characteristics and developmental abnormalities.
Individuals with down syndrome may have varying intellectual disabilities and developmental delays. It is the most prevalent genetic chromosomal defect and the root of children’s learning problems. It frequently results in other medical issues, such as cardiac and gastrointestinal problems.
Down syndrome symptoms
Individuals with Down syndrome can have mild, moderate, or severe intellectual and developmental issues. While some people have serious health issues, like intense heart defects, others generally have good health.
Both Down syndrome children and adults have distinctive facial characteristics. Although not all individuals with Down syndrome share the same features,
Some of the more typical ones are as follows:
- Flattened face
- Little head
- Brief neck
- Erupting tongue
- Eyelids that are inclined upward (palpebral fissures)
- Tiny or unusually shaped ears
- Muscle tone issues
- Hands that are short and broad with just one crease in the palm
- Fingers that are relatively short and small hands and feet
- Too much flexibility
- Brushfield’s spots are little white dots on the iris, the colored part of the eye.
- Short height
When to seek a doctor?
Down syndrome is typically detected before or at delivery in children. However, consult your doctor if you have concerns about your pregnancy or the health and development of your child.
Causes for down syndrome
Chromosome 21-related abnormal cell division leads to Down syndrome. These errors in cell division lead to an additional whole or partial copy of chromosome 21. This additional genetic material brings down Down syndrome’s distinctive traits and developmental issues.
Complications of down syndrome
Numerous issues can affect people with Down syndrome, some of which worsen as they age.
Down syndrome complications include:
- Heart defeats
- Alzheimer’s disease
- Immune disorders
- Gastrointestinal defeats
- Spinal problems
Preventing a down syndrome
There is no prevention for down syndrome. The considered parent should consult a genetic counselor before becoming pregnant if you are highly likely to birth offspring with Down syndrome or if you currently have a child with the condition.
You can learn more about your likelihood of becoming pregnant with a Down syndrome child from a genetic counselor. Additionally, they can discuss the available prenatal tests and the advantages and disadvantages of testing.
Reviewed by – Dr. Priyanka, MBBS MD Microbiology
Page last reviewed: 16 JULY 2022