I think that most people can pick out an individual with Down syndrome- but what is it that makes their appearance so identifiable? Here’s a short list of some of the characteristics that individuals with Ds can exhibit. No one has all of them. What’s important to remember is that the number of characteristics that a person DOES have has no bearing on their level of cognitive, physical, or social ability (in other words, just because someone is “more obvious” doesn’t mean that they’re more severely delayed!)
Muscles: I think that one of the most noticeable, easily recognized, and first identified characteristics is low muscle tone. Low tone doesn’t mean that the muscles are weak- it happens when the brain doesn’t receive signals as well as it should (this is overly simplified, of course). Babies with Ds are described as being “floppy” babies. If a newborn is unusually floppy, doctors start looking for more markers. The low tone affects every muscle in the body- most people think of only large muscle groups, like arms and legs, but if you think about it, it affects tongues, intestinal tracks and eyes as well. It’s the muscle tone issue that, when not helped by physical therapy, cause that stereotypical gait when individuals walk.
Piper has been described as having normal, albeit low normal, muscle tone. Her tone is a little sporadic, though- her arms are more affected than her legs, for example.
Head: Heads of kids with Ds have a few commonalities. They tend to be slightly smaller and be characterized as brachycephalic (which means that the back is flat).
This is one place that Piper doesn’t really follow the norm. Her head circumference is the only thing that’s even remotely CLOSE to the typical growth chart (she’s actually ON it!) and she doesn’t have a brachycephalic back.
Nose: Kids with Ds have a flattened nasal bridge (and are sometimes even missing the nasal bone itself)- it gives them the appearance of having that cute little button nose. (Side note: this is one of those really “unfortunate” outcomes of Ds, donchya think? My black-side joke is that it took Ds to take away the giant shnozz that I gifted to our gene pool…)
Mouth: Probably the most stereotypical Ds feature is a protruding tongue. It used to be thought that the tongue was larger than it should be. But now they know that the mouth cavity (along with sinuses) are smaller than they should be. The roof of the mouth is also higher and more narrow, giving the tongue less space to be. The tongue protrusion is also blamed on that low muscle tone.
We do see Piper’s tongue on occasion, but she’s usually really good at keeping it “in.” When she was teeny, she’d go through phases where we wouldn’t see it at all, and then phases when we’d see it a bit more often. Nowadays, we don’t so much see her tongue as we see an “open mouth posture” when she’s “at rest.”
We still sometimes see it when she’s smiling enthusiastically. Although I’m 95% certain that’s because she thinks it’s funny…
Neck: One of the “soft” markers they look for on ultrasound to screen for Down syndrome is a thick nuchal fold. The nuchal fold is just the fat pad and skin found at the back of the neck. It’s one of the standard measurements at the 20 week ultrasound that most pregnant women get. If you remember, we had a Nuchal Translucency Screening done with Addy a year ago- that test focuses on this measurement.
Eyes: Eyes are often almond-shaped and upward-slanted. And kids with Ds can have the most beautiful eyes because of something Brushfield spots. Brushfield spots are raised, white dots on the outside of the iris that reflect the light. The really cool thing about them is that they make the eyes sparkle- how cool is that? They also often have epicanthal folds. This is where there’s a wrinkle of skin that covers part of the inside corner of the eye. None of these features hurt or damage the eyesight.
Piper’s eyes do slant up a tad, but they’re not almond shaped. She also has epicanthal folds, but, alas, no Brushfield spots. Bummer.
Hands and Feet: Individuals with Ds often have small hands with short, almost stubby, little fingers. And the same goes for feet. Because of the low muscle tone, hands tend to be “splayed” in a starfish shape. They can also have little curved pinkie fingers. One of the most notable features, though, is a single palmar crease across the palm of the hand (most people have two lines across their palms that don’t intersect.) They also have a large gap between their first and second toes, called a sandal gap.
Piper definitely has short fingers and toes, and pretty dinky little hands. And she’s currently (almost) two and a half and wears a size 4 shoe with plenty of space. I can’t say much, though, because I also have short, stubby fingers and toes. And I wore a size 1 shoe on my first birthday and a size two on my second birthday… After she was born, I had no idea why they identified her “spade-shaped hands,” but now I know that it was a “well, she doesn’t have that” statement. She DOES have the palmar crease (and so does her uncle, at least on one hand!) but no sandal gap. This picture isn’t great, but you can see her palmar crease. She was sleeping before I thought about grabbing a picture… Poor kid was manhandled for this, lol.
Limbs: One of the markers that can be noted on ultrasound are short long bones in the arms and legs. A little bit of a side note: one reason, they say, that kids with Ds are late sitters is that, because their arms are shorter, it’s difficult, and not really helpful, to learn to tripod sit with the help of their arms. Piper NEVER used her arms to prop with.
Piper’s arms are, and always have been, shorter, comparatively, than her leg bones. In utero, her arms always measured about 2-3 weeks behind the rest of her. Her legs always measured 1-2 weeks behind the rest of her. Now that she’s big, I don’t really notice her legs being short. Her arms, however, are a bit more obvious.
Ears: Ears tend to be smaller, lower set, and can be “folded”. The canal itself is substantially smaller than similarly sized, typical peers. The small and lower-set ear canal is part of what makes ear infections more prominent in kiddos with Ds.
Piper’s ears are positioned and shaped correctly, but she definitely has small canals. And, oddly enough, one is smaller than the other. Bizarre???
Short stature: Kids with Ds have their own growth chart because their height tends to be very different than their typical peers. (Another funny fact: European boys with Ds are taller than their American counterparts, but girls are similar- how weird is that?) Last year, I was curious what the Ds chart looked like ON the typical chart- you can find that here.
This is, I think, Piper’s most obvious trait. The kid is a shrimp. She’s about 31 inches tall and weighs 20 1/2 pounds. She’s small even by Ds standards, holding up between the fifth and tenth percentiles (although height may be a little higher now.) This is a picture of Piper and her buddy who’s a week older than she is…
People with Ds have a bunch of characteristics that make them look like each other. These are a few of them. But they’re all individuals- and they all look like their families first! Sure, they may have 47 chromosomes, but they STILL get all 47 chromosomes from their parents!