Today, it’s no longer uncommon to come across someone who has Down Syndrome. It’s a condition with no definitive cure, which is why individuals need to know more about the nature, risks and symptoms. Learning about the features and the syndrome itself can help you stay ahead and prevent complications.

Defining Down Syndrome
Down syndrome or Down’s syndrome is also known as trisomy 21. It’s a chromosomal disorder triggered by the presence of a portion or the entire extra 21st chromosome. The condition is named after John Langdon Down, a British doctor who described the syndrome back in 1866. The disorder was known as chromosome 21 trisomy by Jerome Lejeune in 1959.

Characteristics
A mixture of major and minor structural differences characterizes the condition. In most cases, Down syndrome is linked to problems with physical growth, facial appearance and cognitive ability.

Patients afflicted with Down syndrome usually have below average cognitive ability, ranging anywhere from mild to moderate developmental disabilities. There are also a few who have severe to profound mental disability. About 1 in every 800 to 1,000 births is found to have Down syndrome. Although the numbers are highly influenced by the mother’s age, other factors also have a role.

Physical Features
Several common physical features of the condition occur in individuals with a standard chromosome set too. Some of the inclusions may be a single transverse palmar crease, almond shape to the eyes due to the eyelid’s epicanthic fold, upslanting palpebral fissures, poor muscle tone, shorter limbs, bigger than usual space between the second and big toes and a protruding tongue. Some of the other health risks for patients include a heightened risk for gastroesophageal reflux disease or GERD, congenital heart defects, obstructive sleep apnea, thyroid dysfunctions and repetitive ear infections.

Early childhood intervention, vocational training, common problem screening, medical treatment and a conducive family environment can prevent the arrest of development of Down syndrome among children. Proper care and education that leads to an improvement in quality of life are invaluable, even though some of the features of the condition cannot be controlled.

About the Chromosomes
A non-down’s baby inherits genetic information from the parents during conception through 46 chromosomes. 23 come from the mother, while 23 come from the father. In cases of Down syndrome, a baby can inherit an extra chromosome 21. The total chromosome count then becomes 47 instead of the usual 46. The extra genetic material leads to the developmental delays and physical features linked with Down syndrome.

There is no true known reason why Down syndrome occurs, and there are also no known ways to stop the chromosomal error that leads the condition. Women 35 years old and older, however, have a higher risk of bearing kids with the condition. Women aged 30 years have an estimated 1 in 900 chance of bearing a child with Down syndrome. Women aged 35 years have an estimated 1 in 350 chance of bearing a Down syndrome baby. Those aged 40 have a higher risk of about 1 in every 100.

Preparation
There is always a risk for parents to bear children with Down syndrome. The most important thing is that they stay prepared just in case the inevitable occurs. Early screening and diagnosis is key.