What is Down Syndrome? Finding someone who has Down Syndrome is no longer uncommon. It is a condition with no definite 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. Here are the characteristics.

Down Syndrome defined
Down’s syndrome or Down syndrome is also known as trisomy 21. It is 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. A mixture of minor and major 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.

The 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, protruding tongue and bigger than usual space between the second and big toes.  Some of the other health risks for patients include a heightened risk for gastroesophageal reflux disease or GERD, thyroid dysfunctions, repetitive ear infections, obstructive sleep apnea and congenital heart defects. 

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

About the Chromosomes

A normal baby inherits genetic information from the parents during conception through 46 chromosomes. 23 comes from the mother, while 23 comes from the father. In several 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 or why Down syndrome occurs, and there are also no known ways to stop the chromosomal error that leads the condition.  The over all health for women generally deteriorates as they get older may have some effect on the unborn child, but there is no evidence to truly prove anything.  Although women 35 years old and older, however, have a higher risk of bearing kids with the condition. Women 30 years old have an estimated 1 in 900 chance of bearing a child with Down syndrome. Women 35 years old have an estimated 1 in 350 chance of bearing a Down syndrome baby. Those 40 years old have a higher risk of about 1 in every 100. 
Preparations

The risk for parents to have children born with Down Syndrome is always there. The more important thing is that they stay prepared just in case the inevitable occurs. Early screening and diagnosis can help and alleviate some of the problems. 

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