Today’s fact: Down syndrome was identified as being a trisomy of the 21st chromosome in 1959, by Dr. Jerome Lejeune.

After Daniel was born I had a few people tell me he didn’t look like he had Down syndrome. And truthfully, when he was asleep I couldn’t see it at all. He looked just like Will! So I discussed with the pediatrician who first diagnosed him the physical symptoms that led to the diagnosis. Here’s what they noticed:

~ Hypotonia, or low muscle tone. This was hard for me to notice at first because to me all brand new babies are a little floppy. I could tell easily by about 6 weeks old how different he felt from other babies that same age.

~ Extra fat pads on the back of his neck. When they measure the nuchal fold during an ultrasound this is what they’re looking for. A larger nuchal fold is a soft indicator for Down syndrome. (This one was easy to see when the nurse pointed it out.)

~ Lower set, rounded ears. This is not particularly pronounced on Daniel, but in combination with the other symptoms was another indicator.

~ An upward slant to his eyes.When he first opened his eyes at me I saw this. This feature is one of the things that makes Down syndrome so easily recognized.

That was really about it. The pediatrician who diagnosed him even went so far as to tell us that it wasn’t a clear cut case, that we’d have to wait for the chromosome test results, but that his gut told him Daniel did have Ds. (We were sure though, after the initial diagnosis.)

So what are some of the common physical traits that he doesn’t have?

~ A single crease in his palm. This results from not keeping tight fists in the womb, and isn’t exclusive to Down syndrome, but is common.

~ A large gap between the first and second toe.

~ Protruding tongue. A protruding tongue in people with Down syndrome is partly due to a small jaw creating a small mouth. Apparently Daniel inherited Brian’s huge mouth, just like our other kids.

~ A single joint in the pinkie fingers.

~ Flattened nose.

There you have it. Of course that’s not all the physical characteristics of Down syndrome, but some of them aren’t visible at birth (smaller teeth, for instance.) One thing I found interesting was that even though Daniel doesn’t have some of the more common characteristics he does have Brushfield spots which are less common. Brushfield spots are white spots around the iris, and I think they’re really pretty. That wasn’t one of the diagnosing features though (probably because Daniel had his eyes closed for like the first 4 weeks of his life.) Anyway, just some interesting stuff. Physical characteristics aren’t an indication of mental capacity in people with Down syndrome. And now a smiling face for your effort.

8 thoughts on “Physically

  1. I totally couldn’t tell the whole time I was at the hospital with him! But it’s interesting to hear the physical characteristics that he ended up with and the ones he didn’t.

  2. With all I’ve read about Ds, that’s the first time I’ve ever heard an explanation for the single palmar crease! Pacey has typical creases too…in fact, I don’t think any of our friends who have Ds have single creases.

    Pacey was 10 weeks premature and the neonatologists picked up on some VERY subtle characteristics that led to testing. Chris and I couldn’t see any of it at the time but now I look back and it’s SO obvious to me. 🙂

    • I can’t remember if it was the pediatrician who told me about the single crease, or his therapist. My uncle actually has a single crease, but not Down syndrome!

  3. Uncle who? And is “ridiculously cute” one of the physical characteristics? Because Ds kids always seem to be, and Daniel looks right on track for that!

    • Uncle Mark. We were discussing it when he and Jackie drove through, so of course everyone was looking at their hands. He said he’d never even paid attention.

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