Saturday, October 16, 2010

Physical Characteristics of Down Syndrome: Taking a Closer Look

It was 1866 when an English Physician named John Langdon Down first described the similarities of the condition that came to be known as Down syndrome (Down, named after him.) This happened before we had any insight into the genetic makeup of individuals, so it was not known that the presence of the extra 21st chromosome is what causes Down syndrome. At the time, an individual would be diagnosed by noticing certain characteristic physical features. Let's take a closer look at what some of these physical characteristics are.

Nichole has many of the characteristic facial features of Down syndrome.
Eyes: The eyes of an individual with Down syndrome might slant upwards a little bit and are almond shaped. They might have small folds of skin at the inner corners, which are called Epicanthal Folds.
The outer part of the iris might have light spots that are called Brushfield spots as shown in the picture bellow.
Nose: The bridge of the nose is smaller than usual, giving the impression of a button nose. This sometimes gives the appearance of a slightly broader nose.
Ears: The ears in individuals with Down syndrome can be smaller and the tops may slightly fold over. The ears set slightly lower on the head.
In the picture below, you will notice Nichole's smaller bridge of the nose (appears as if she did not have a bridge of the nose) and her small ears that do sit very slightly lower.

Neck: Some individuals with Down syndrome (and you can see in Nichole's previous picture to some extent) have a "thicker" neck, or what appears to be an excess of skin on the neck. This is one of the markers for Down syndrome that can be caught in an ultrasound.
Below is a picture of a stunning young lady where you can see her neck a little better.

Flat Profile: Individuals with Down syndrome tend to have a "flatter" profile. This is due in part to the small bridge of the nose, but also the forehead tends to be flatter.

Mouth: The mouth and tongue are made up of many muscles. Individuals with Down syndrome have low muscle tone, and therefore, the muscles in the mouth and tongue might be weaker. Contrary to what was believed before, the tongue is not bigger than normal. When the tongue is sticking out, it is a matter of low muscle tone and it can be worked on through oral exercises and speech therapy.
The muscles surrounding the mouth are also weaker and some individuals with Down syndrome, appear to have an upside down smile (a frown.) As you can see in Nichole's picture bellow, she seems to be sad, when in reality that is her "resting" pose.

Teeth: Teeth may come in late and in an unusual order. For example, Nichole got her bottom 2 teeth first, followed by a random order (her molars came in before her two top teeth.) For some individuals their teeth might be small, unusually shaped, or out of place.
Nichole, for example, has a tooth out of place, it sits way back behind the others. You can see that in the picture bellow, your left hand side between the front tooth and the canine tooth. (Forgive the messy face, it was the best picture I had of her teeth!)

Hands: Individuals with Down syndrome tend to have shorter and chubbier fingers. As you can see in the picture bellow, many individuals with Down syndrome have just one crease across their palm, called the transverse palmar crease. For some, like for Nichole and the baby from the picture bellow, the pinkie finger appears to be crooked.

Feet: There may be a gap between the big toe and the rest of the toes. There might also be a deep crease on the sole of the foot where the gap is.

You can see Nichole's toe gap in this picture. I absolutely love it! And it is great for flip flops!

Low Muscle Tone: One of the most significant characteristics of Down syndrome is low muscle tone (discussed briefly as we talked about the mouth and tongue) or Hypotonia. Low muscle tone affects all the muscles in the body. A baby may appear "floppy" as shown in the picture bellow. It affects movement, strength, speech, and development. It cannot be cured, however, there are many therapies available to help individuals with Down syndrome improve their muscle tone, such as Speech Therapy, Physical Therapy, and Occupational Therapy.

Hair: Some individuals have thin and straight hair. However, as you can see bellow, Nichole has a head full of beautiful curls.

Not all individuals with Down syndrome exhibit all of these characteristics. It is important to remember that individuals with Down syndrome resemble their families more than they resemble one another. After all, 46 of their chromosomes are perfectly normal.


  1. Great post! Nichole is so, so beautiful! I could look at pictures of her all day!

  2. Nicole is so gorgeous! What's interesting is that I know people who have maybe one of these characteristics that aren't downs. Something I will remember if my children ever need a discussion about physical appearance. For ex the little girl I used to nanny has crooked pinkies (she hates them). We are all built differently but still so beautiful :) Thanks Ellen!

  3. Ellen I have read MANY blogs this month about DS and this is by far my favorite. It was so informative and full of gorgeous pictures of Nichole. Thank you for sharing!

  4. Thanks Ellen! This was very interesting. I following your like to the information about single transverse palmar crease. I have this in my right hand. The Wikipedia article said it can run in families. My hands are shaped very similar to my Grandma Nicholson's. Does Andy have this?

  5. What a pretty girl Nichole is! Thanks for sharing!

  6. Anonymous10:48 PM

    Nicole has absolutly BEAUTIFUL eyes! Of course all of her is perfect and adorable but those eyes are just stunning.

  7. Wow this was a really fascinating exposition for someone who knows next to nothing about Ds. Thank you!
    It's simply incredible to me that that one extra chromosome can cause differences all over the body like that. I never would have imagined that.
    And, man, she is a cutie! Gosh, that picture of her eyes is just gorgeous.

  8. Both girls are beautiful. But it's hard to tell that either ones has downs.

  9. Beautiful children and well written!!

  10. Very informative and well written! Nicole is beautiful! My girls also have the toe gap but they are affected by some other illness which, although it looks like EDS hypermobility type is still a mystery because there are so many things going on.


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