People with Down syndrome often have particular facial features. Could someone possibly inherit genes that, by coincidence, result in a look that resembles that of someone with Down syndrome?
People with Down syndrome often have particular facial features. Could someone possibly inherit genes that, by coincidence, result in a look that resembles that of someone with Down syndrome?
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Shane Gillis and Jack Black are two examples
People can have Down Syndrome mosaicism. This means that they have the extra chromosome in some cells, but not others. Such people usually have a degree of retardation, but are usually high functioning; however, while very rare, it is not unknown that a person with mosaicism has no mental retardation at all. Such people usually have mild expression of the syndrome otherwise as well, and may or may not obviously look as though they have Down Syndrome.
I have once or twice had the embarrassing experience of thinking someone was intellectually challenged when they were not. They were just plump in a particular way, had a smiley face and happy demeanour, and a speech impediment.
Luckily neither of them noticed my error.
It’s very plausible
Jack Doherty looks like he has light downs imo.
Barry Keoghan. Looks like something’s not right there.
This is gonna sound silly but it’s true: I mean anyone can look like anything.
Also-there are tons of things we don’t understand or haven’t discovered in terms of syndromes etc.
On top of that, most syndromes or neurodevelopmental disorders, have a range. And they all have some key characteristics typically associated with them. It just so happens that Down Syndrome tends to be less variable than let’s say Autism (hence why we call it a spectrum).
That being said: Someone could have a “touch” of something (something we psychologists may say to each other) but not meet diagnostic criteria. Or may have most characteristics but not all or may have mild versions of some of the characteristics and severe versions of others.
These conditions often present as a mosaic. Therefore, it’s best not to judge a book by its cover.
EDIT: TBH these diagnoses (diagnostic criteria) are just constructs we use to describe a co-occurring set of characteristics. The label is intended to help us understand how to treat better, do science…and of course insurance.
EDIT2: I feel that maybe I didn’t explain myself well. I’m not disagreeing about the clear genetic marker for Down syndrome. What I’m trying to say is that asking whether someone could “look” like they have Down syndrome but not flag genetically is a complex and frankly, loaded question. The short answer is: most likely yes. I also think it depends on what you mean by “look”. Like purely visually? Or they literally have the genes that make their face physically appear a certain way but they don’t have the extra chromosome? This is complex because it has to do with how the extra chromosome impacts facial development. But through random chance people could certainly appear similarly. Is that your question?
Yes.
Yes. There are coincidences. There are people with all sorts of shapes of eyes and proportion of neck and prominence of nasal bone, for example.
But if the look is very much a match and the disability isn’t, I would reckon a guess that T21 mosaicsm is present. That’s when only SOME, not all, of the cells in a developing embryo have three copies of chromosome 21. How this presents in a person will depend on which cells are affected and what those cells become downstream. Mosaic trisomy is usually a more mild presentation of the disorder than full trisomy.
Yes, I once had a patient that physically appeared to have Downs. He was completely normal intellectually and spoke just like anyone else. My guess is that he may have had mosaic Downs, where all of his cells weren’t affected with the extra chromosome.
I’ve come across families where a small child looked like that, and it made me feel a bit uncomfortable at first, because I wasn’t sure. But then it turned out that it was just their natural childlike appearance.
DS like many conditions has a wide range of impacts/severity on cognitive and health functioning. The issue becomes even more complex with the genetic mechanisms behind it and how there are a couple of subtypes due to that.
Like Ellie from TLOU?
Larry Drake got famous playing a character with Down syndrome on LA Law, and as far as I know had no diagnosis himself.
Mosaic Stndrome actually exists too.
Like comedian Shane Gillis?
He jokes about it.
Mosaic downs
observe Shane gillis
I went to high school with a girl whose face could confuse some people if they didn’t know her. She had the facial features common in people with down syndrome and even had that straight line across her palm (she was also a little over healthy weight at the time.)
That girl graduated in the top 10 in a class of almost 400. She was a sweet, smart girl who just happen to be born with those features.
New guy at work. Really easy, no skill job. I’m showing him one of his tasks. I’m inspired that we hired someone with special needs. He’s competent enough, but not especially nice. Not like you’d expect someone with Down Syndrome. At one point he stops me and says, “I’m not stupid, you know…” And I’m like, “No, of course not. You’re doing really well.” And I took note not to talk to him like such a child.
Not only did he not have Down Syndrome, he was one of the bosses closest friends. He was far more of an expert of what we did than I was lol. He was promoted up to a lead pretty quickly. We became work friends, and eventually he’d jokingly remind me how I treated him like he was an idiot on his first day. Never told him why. Told our boss though, who thought it was hilarious. Eventually he got demoted for being lazy, and fired for punching a guy.
Shane Gillis is a comedian who points out that he has some of the features of Downs, that is grazed him. I had people tell me when my son was very young that he had downs, he does not.
Jack Black comes to mind.
Depends on what you exactly mean.
There is fetal alcohol spectrum disorder.
https://en.m.wikipedia.org/wiki/Fetal_alcohol_spectrum_disorder
And defietly some genetics that can give the impression of down syndrome effects, without having any relation to it.
People with down syndrome were called mongols in earlier times for the similarity of the facial structures that they posses. (Not acceptable nowadays obviously)
My bf’s mom and sister have the physical characteristics of someone with down syndrome, but intellectually they’re normal (just that his sister is autistic, but is the high functioning type). It’s interesting because they have certain speech impediments and defects and they have the look of someone with down syndrome, but they are highly intelligent. His mom has an engineering degree and his sister is quite ahead of her peers mentality wise and is a very skilled artist.
My friends have a child who looks like she has it, but doesn’t. Her mother also has narrow eyes and a full face with no neck, prominent jaw and big tongue, just to a lesser degree. I also had a student who looked like he had Fetal Alcohol Syndrome, but no intellectual deficits. Then I saw his mom and she looks like that too.
Shane Gillis…
I mean, I have an entirely different birth defect so it’s not really just coincidental, but Treacher Collins Syndrome can mimic Down’s Syndrome. I’ve been mistaken for having it many times before, even though my syndrome is a purely physical defect and doesn’t cause any intellectual or learning disabilities.
sydney sweeney
It must be possible. I mean look at Chinese Alan from Gavin & Stacey.
Yea kinda. The actress Tori Spelling says she would be made fun of people saying she has Down syndrome
My son has a different chromosome disorder. He looks more like he has Down syndrome than not. Doesn’t really affect his life because he has an intellectual disability anyway, but people assume he has DS all the time.
Shane Gillis
Yes. In fact, there are certain places in the world where you can observe these traits in a large portion of the population because they run in families or tribes. Two regions that immediately come to mind are Yakuts in Northern Siberia and the Khoisan in Africa. Keep in mind that years ago down syndrome was referred to as mongoloidism, a name that came about as a result of individuals with the syndrome resembling peoples of Asian descent. But these facial features originated in Africa, with people migrating north to Asia.
When my sister was born some people thought she might have down syndrome. She does not. It was her eye shape.
Shane Gillis is a famous person with this
Ask a fat korean
Yes, I have a condition called cleidocranial dysplasia that features a lot of the same physical affectations such as wide set eyes and a bossed (sloped) forehead. It’s a bone condition, no affects on the brain or mental state. When I was in utero, doctors thought I had down syndrome but it turned out to not be the case, it was CCD instead.
In addition to some of the causes mentioned in other comments, there could also be other conditions that share similar physical traits. Fetal Alcohol Syndrome for example can cause a lot of similar characteristics physically and cognitively.
Shane Gillis
My friend who is Vietnamese/Chinese who had a kid with a Caucasian guy. Kid looks 100% white. But has Asian eyes. So looks like he has downs. Even a doctor said it shortly after he was born.
The first pictures I saw of my then-future-sister-in-law gave her the “typical” appearance of Down’s Syndrome. In person, the effect was much more subtle. As far as I know, she has zero cognitive disabilities.
A girl I grew up with looks so much like she has down syndrome that at 40 I’m still not convinced she doesn’t have it. At some point during the foetal stage she was for sure touched by a down angel and it left behind a little something something in the DNA.
But I think it’s more common for people to not look like they have downs when they actually do than the other way around.
It’s possible to have Down Syndrome without the intellectual disability that goes along with it, though it’s unusual. He could genetically have Down Syndrome but functions in the average range.
My sister has a Mongoloid look to her with broad features and epicanthal folds and she’s really freaking smart, a lawyer.
Yes. It’s called Faciatis Moderatus, meaning that you are predisposed to be a reddit mod.
Sure, nature has a quirky way of mixing things up
On the opposite side, I read about a woman who didn’t know she had down syndrome until a few of her kids were born with DS.
Woman has DS but doesn’t look like it.
Ashton Kutcher and Keira Knightly, maybe Jerry Lewis. Our features vary in so many ways that such similarities can occur randomly.
I present…… Shane gillis
There are a couple other syndromes that are somewhat similar in appearance that sometimes get confused.
I believe it’s more common to have Downs syndrome without the physical appearance than it is to have the appearance without actually having Down’s syndrome. For those folks, they often don’t realize it until they start having kids and realize they passed on the gene.
A kid who went to our high school had the distinctive features but not actually the syndrome. Everyone called him Corky because of the character with Down Syndrome on Life Goes On.
Yes! I have a nephew who we al quietly think looks like he has Downs Syndrome. He just seems to have drawn the short straw and inherited a few traits from both sides of his parentage (large, loose lips and mouth, small close together eyes). Poor kiddo, we certainly do love him though.
I knew a girl who I was convinced had downs due to her appearance. She didn’t have it, she just had the appearance.
Jaylen Clark.
Yes, I grew up with a guy whose nickname is downy. He deadest looks like he has Down syndrome, but clearly doesn’t, he’s super smart and works as a pharmacist.
yeah i kinda feel selena gomez looks a bit that way
Shane Gillis
Absolutely. Just look at that actress staring in the Last of Us show. She totally looks like she has downs but apparently doesn’t.
Yea ask Shane Gillis
Shane gillis
Catelynn Lowell
You ever seen Shane Gillis?
I knew of a wasian girl who people kept thinking had Down’s syndrome. She just happened to have a lot of the physical similarities lol
We had someone in the c suite of my current company who looked for all the world like a person with Down Syndrome.
sure! sometimes people with fetal alcohol syndrome look like they have downs as well.
I know a girl who looked very Down like but is not.
And it used to be called “mongoloid” so probably many people in Asia look like they might have it, at least to someone not from that group.
According to John Langdon Down, this applies to the average Mongolian. It’s why he called them mongoloid.
there’s a guy working at a supermarket that i go sometimes and he really… really… REALLY looks like he’s down, but he seems pretty ok, agile, talks normally, also used to the job and relaxed, does the cashier, the first time i saw him i was puzzled
personal note:: if you’re pregnant and the screening says that your fetus is down, please… do the right thing and abort
I see it in many faces
Not meant to be mean, but i think about this when I see that protagonist girl from The Last of Us 2. Am I the only one?
Idk what seems off about her face to me
I remember reading a post on Reddit a couple of years ago by a woman who had a daughter who had facial features commonly associated with intellectual disability, but was completely normal in her functioning levels.
It was a bit heartbreaking, it sounds like she got bullied and ostracized a lot by her peers and patronized by adults.
I saw someone like that recently, a person who was short and round and who had many of the other physical characteristics of Downs’ Syndrome, but who was working in a profession that requires higher education, and experience and advanced certifications within the profession.
A drywaller walked into my job the other day and was normal in every way except his appearance. I couldn’t get past it for some reason and felt terrible for a second