Down Syndrome Symptoms

Doctor Langdon Down after whom the disorder was named after, was the first to describe this syndrome as a problematic disorder. He wasn't able to trace what caused Down syndrome, although it was later discovered in 1959 that it was linked to one's genes. Down syndrome is also known as trisomy 21 which takes place among 1 of about 800 births. It impairs one's cognitive abilities and brings on other problems like low muscle tone, learning disabilities and changes in one's physical features, to name a few

In the human body there are 23 pairs of chromosomes in each cell, where the genes are situated, maintaining the body along with keeping track of proper functioning and development. When one is born, he/she inherits one chromosome 21 from the mother and father individually. In an abnormal exchange during one's birth, one inherits two copies of chromosome 21s from the mother, and one from the father. That is how the disorder gets its other name of trisomy 21.

Down Syndrome Causes

We now look extensively into how the signs of Down syndrome in newborns take place, which can come about due to one of three types of cell divisions that are unnatural. Due to that extra chromosome 21, which was mentioned earlier, these can lead to three distinct reasons why Down syndrome occurs.

Mosaic
In this type of disorder, children are born with cells that have only a certain number of them containing the extra chromosome 21, which takes places during cell division abnormalities after fertilization.

Trisomy 21
This involves all cells having an extra copy of chromosome 21, as opposed to the previous disorder's number of limited cells having the chromosome. This can take place due to unnatural cell division when the egg or sperm cell doesn't develop normally.

Translocation
Before or during conception, one part of the chromosome 21 can hook onto another chromosome, so that later on children when born, have in their cell structure some chromosome 21s that are attached to the 'translocated' chromosome. This is a rare case, although very much likely a disorder to take place. It can be inherited, depending upon the sex of the parent carrying the chromosome 21 that is impaired. The chances of showcasing the symptoms of Down syndrome are higher when a woman is the carrier.

Down Syndrome Symptoms During Pregnancy

The symptoms in babies are noticeable when the fetus is inspected by carrying out certain tests. These tests include the AFP test (alpha-fetoprotein), ultrasound screen tests and a nuchal translucency test. These tests are carried out when the mother is 15 - 20 weeks into her pregnancy. Certain changes and features of the fetus determine whether he/she is likely to develop this disorder. The features that are examined are.

• Heart has small bright spots from within which are inspected.
• Nasal bridge is checked for abnormalities.
• Large gaps between the first and second toes are also examined.
• The space between the finger's midsection is small indicating certain results.
• The size of the renal pelvis is evaluated.
• Angle of the pelvic bone is screened.
• Bowel has an increased brightness indicating certain factors.
• Leg bone and arm length are determined as abnormal or not.

The following are the symptoms in infants that take place after they're born, showcasing features and signs of having this disorder.

• Hands are broad and shortened, where the fingers are short with creased palms.
• Ears are small.
• Growth is delayed.
• Short neck.
• Tongue sticks out awkwardly.
• The iris has small white spots crowding its insides, known as Brushfield spots.
• Ligaments are loose.
• Mouth is either small or large in some cases.
• Poor muscle tone.
• Nose and face has a flattened look.
• Upward slanting eyes.
• Ears are shaped irregularly.
• Flexibility is hampered.
• Small head.

Those who suffer from this disorder live well into their fifties due to advanced treatment methods and help given to them upon immediate consultation with a doctor. I wish you luck.