Clinical Manifestations of Down Syndrome Series: Introduction


If one was to conduct an internet search to find out what are the clinical manifestations of Down Syndrome, it would turn up many sites describing the physical features of Down Syndrome. Typically, you would see the features that are characteristic of a diagnosis of Down Syndrome.

People assume that just because a person is physically different than the typical or normal person, that the difference seen, is abnormal in nature. Further, that this abnormal feature in nature must be incompatible with life or cause difficulty in life. So much so, that when individuals hear that their child has a diagnosis of Down Syndrome, little thought is given to what does that difference actually mean because people are still grasping with the diagnosis itself.

The thing is, just because an individual with Down Syndrome has a physical feature that is different compared to the normal population, it does not mean that the physical feature will cause the person to have a difficult life, to be suffering, to be detrimental that it will cause physical and/or emotional trauma to the person, to be incompatible with life, to be depressed, to be ostracized, or to be marginalized. A lot of these listed worries are social constructs that people and society hold over individuals that look physically different from themselves and others.

What one must realize is that the difference seen is not abnormal because they are common features of Down Syndrome. What would be abnormal is if someone that has Down Syndrome has a feature that no other person with Down Syndrome has. This may be seen as a slight difference and some may see it as “splitting hairs” but what it does signify is a difference in perception. If you can see that difference in perception, then you will not see Down Syndrome as “abnormal” and “different”. What you will see is the person behind the physical features. What you will see is a person with similar health issues that some people of the normotypical population have. The only thing that sets apart the person with Down Syndrome from the rest of the human population are their physical features.

This clinical series about Down Syndrome will look at the following physical features of Down Syndrome. Each feature will be discussed in a separate post. All posts as a part of this series will be found under the New Parent Guide. This blog series will take a while to complete as the amount of information that will be discussed is great.

The following features will be discussed:

  • Head
  • Face
  • Eyes
  • Nose
  • Ears
  • Mouth
  • Teeth
  • Chest
  • Neck
  • Abdomen
  • Genitalia
  • Hands
  • Feet
  • Musculoskeleton
  • Skin
  • Other