Down Syndrome: Causes and Symptoms Pt 1

The genes of a person play a significant role when it comes to his or her physical and mental well-being. In fact, the type of your genes will decide the texture, color, and type of your hair, to the way you digest your food. Hence, any case of gene defect is obvious to result in a number of far-reaching issues. One of those genetic disorders is Down syndrome.

As a result of abnormal cell division, some people are born with an extra chromosome 21 and this condition is known as Down syndrome. Note that a chromosome is a collection of genes and human body is designed in a way to accommodate only the right number of chromosomes. Hence, this extra chromosome can lead to a number of physical as well as mental health issues per individual doctor diagnosis. Unfortunately, Down syndrome cannot be cured completely and is a life-long condition. However, medical science has developed much and hence, detecting the health condition in an earlier stage can control its impacts to a great extent. In fact, people with Down syndrome are likely to lead a meaningful and quality life if the disorder is detected in the initial stage.

There are mainly three types of Down syndrome:

Trisomy 21 – this condition is the most common one and is characterized by three chromosome 21 in all body cells of the patient.

Translocation Down syndrome – in this case, each body cell may have partial or complete extra chromosome 21. However, the extra chromosome will be attached to another one instead of being alone.

Mosaic Down syndrome – this is the rarest one. Here, only a few body cells will have the additional chromosome 21.

The Symptoms

Down syndrome poses a number of risks, ranging from trivial to severe. However, this will vary largely from people depending on their intellectual and developmental skills. Some people will be healthy and will be able to live their life without any support. On the other hand, some Down syndrome sufferers may face a number of serious health issues, including heart defects, vision and hearing impairments, etc. In addition, some Down syndrome patients are likely to depend on others even for their basic needs. Furthermore, adults and children with Down syndrome are mainly characterized by certain physical features, even though the features are not common to everyone. Some of the common physical traits seen in Down syndrome patients are listed below.

  • Flattened face
  • Short neck
  • Small face
  • Upward slanting eyelids
  • Protruding tongue
  • Poor muscle tone
  • Small or unusually shaped ears
  • Single crease in the palm
  • Short and broad hands
  • Excessive flexibility
  • Short stature
  • Tiny white spots on the iris known as the Brushfield’s spot
  • Small hands and feet with relatively small fingers