r/tophiachutiktok
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What’s wrong with Tophia?

r/tophiachutiktok • by perfect_fifths •

My guess is KBG syndrome.

I have seen Cantù, Turners, Williams and acromegaloid facial appearance syndrome brought up before.

Cantù has only 50 recorded cases in the world and comes with cardiomegaly, hypertrichosis and osteochondrodysplasia. She would be covered in hair if this were the case, everywhere, and it would be quite thick. it also includes distinctive skeletal abnormalities, a large body size (macrosomia) at birth, a reduced amount of fat under the skin (subcutaneous fat) beginning in childhood, deep horizontal creases in the palms of the hands and soles of the feet, and an increased susceptibility to respiratory infections

So I don’t think this is it. It’s not Williams. Kids with Williams have large mouths and a starry pattern of the eyes.

I don’t think it’s AFAS as that causes high arched feet, hypertrichosis, and prominent rugae and frenula inside the mouth. I don’t think Tophia has that in her mouth, we would have seen it.

Also she has short stature, and AFAS causes normal growth. Her mom is even shorter, so whatever disorder she does have causes short stature.

That leads us to KBG.

A characteristic feature of KBG syndrome is unusually large upper front teeth (macrodontia). Other distinctive facial features include a wide, short skull (brachycephaly), a triangular face shape, widely spaced eyes (hypertelorism), wide eyebrows that may grow together in the middle (synophrys), a prominent nasal bridge, a long space between the nose and upper lip (long philtrum), and a thin upper lip. But because of something called variable expressivity, not everyone is going to have every single symptom of the disease.

Furthermore, I put Tophias baby and adult picture into face2gene and it came back as a high match for KBG.

When I put in a photo of someone with Cantù in to the app, it recognized it. I did not see any match at all for Cantù regarding Tophia.

Proof: https://postimg.cc/D8kDHRdg

104 Archived Comments

Archived Comments

  1. perfect_fifths • Share • 208

    This is what face2gene shows, in case you didn’t want to go to a link

    1. hellokippy9k • Share • 105

      LMAO PWS. i mean the bitch can eat, but idk about no prader willi 😒🤣🤣 she really does look like she has FAS or cushings syndrome tho

      1. perfect_fifths • Share • 47

        It’s not pws. When face2gene says low it means it’s not likely to be that disorder. When it’s high, it’s usually correct. face2gene has a 97-100 percent accuracy of predicting syndromes. I don’t thank it’s fas

    2. AirFryerEnjoyer • Share • 19

      She also has a curved pinky which is a characteristic of KBG syndrome. Checks out.

    3. RentsaiX • Share • 18

      it looks like she definitely needs a karyotype

      1. perfect_fifths • Share • 38

        Ideally, momachu, Tophiachu and brotherchu should all be tested. The fact that they all have short statue is sus. And there’s nothing wrong with being small, but the disorder does cause that.

        1. RentsaiX • Share • 11

          especially tophia and momachu they do need some testing

          1. perfect_fifths • Share • 7

            Karyotype is low resolution and misses stuff that isn’t a deletion of less than 5 mega bases. Some of it is caused by a gene mutation, some of it causes by a deletion of 16q24. If she does not have a deletion then a karyotype will miss it. Sequencing of the ANKRD11 should be done.

    4. heliaaa17 • Share • 7

      how can i use this app?

      1. perfect_fifths • Share • 49

        You can’t unless you’re a provider, have a license or work in the field as the app requires individual verification. It is not for general public use.

        1. PhoniChilds • Share • 59

          Ok medical chu💅🏾

          1. perfect_fifths • Share • 32

            Thanks for the user flair idea haha

        2. Comfortable_Yard3097 • Share • 6

          did you try with mamachu’s picture?

          1. perfect_fifths • Share • 23

            I did. It came up as the first condition though to a lesser degree (although still in the med range) but the heat map still shows a lot of similarities

            1. CheesecakeWild7941 • Share • 42

              the side by side image of the stock image of someone with KBG and that specific pic of mamachu has me weak

              1. perfect_fifths • Share • 5

                🤣🤣🤣

            2. mysisisamilfdotcom • Share • 5

              I ain t sleeping tonight 💀

              This pic gonna cause me nightmares 😭

            3. Outrageous_Cake7241 • Share • 5

              Incredible Hulk

      2. heliaaa17 • Share • 4

        seems like i can’t use it because im not a healthcare professional

        1. perfect_fifths • Share • 6

          Correct

    5. Program_Mental • Share • 1

      Ayoo what is this?? I need to try it lmao

      1. perfect_fifths • Share • 2

        A clinician/provider app to help doctors and medical professionals diagnose people with syndromes. You need to have a license or a legit medical need to use it and the account has to be verified by the makers, which is FDNA. It’s not for general public use.

        1. Program_Mental • Share • 1

          Ahhhh okay okay

          1. perfect_fifths • Share • 1

            Yeah, they don’t want people to be using it because genetic disorders have a lot of overlap and it can be complicated.

  2. J3DE • Share • 167

    what if she's just ugly

    1. perfect_fifths • Share • 164

      Chances are it’s an actual condition.

      1. mysisisamilfdotcom • Share • 61

        Tbh I do also think she might have a disorder combined with bad health habits because ain t no way someone is just naturally this ugly without a medical reason 😭

        1. perfect_fifths • Share • 14

          Idk why but this comment took me out, hahaha

      2. J3DE • Share • 14

        that's true. since I'm not a doctor i can't tell if they look similar enough to indicate the presence of a condition. and tbh her face doesn't really seem like it fits into the characteristic features of KBG syndrome but what do I know 🤷
        I think the chances of her having a disorder that has ~100 recorded cases is really unlikely and it might just be that she just looks that way.

        1. perfect_fifths • Share • 26

          This is the heat map. It highlights all the similarities between Tophia and the composite photo of someone with KBG, indicating a high match

        2. perfect_fifths • Share • 21

          Face2gene is pretty accurate. Look at the picture again. If you take Ls eyes, Ms nose and Rs mouth, you get Tophia. I also didn’t think I had a disorder of 250 worldwide, but I did and also used face2gene to help. It was correct for me

        3. alonemisfit • Share • 9

          it definitely does. you not looking hard enough

          1. perfect_fifths • Share • 16

            Face2gene has a very high accuracy rate of 97-100 and gets the type 3 conditions correct nearly all the time. The chances of it not being this are very slim to none

      3. BigBirdBeyotch • Share • 6

        Younger pictures of mamachu are not a carbon copy of Tophiachu though. I mean they look similiar enough now, but I would not go as far to say that they are carbon copies. Furthermore, people say I’m an exact carbon copy of my mother and I have no syndromes. I will say that the symptoms of KBG are all facial features that we do see in Tophia, however people can actually just be ugly and we wouldn’t know with certainty a persons genetic makeup without genetic testing. I really don’t believe that this facial recognition software is meant to diagnose, it’s only meant to give people a starting point of what to test for.

        1. perfect_fifths • Share • 17

          Sure, but Tophia also has clinidactyly, heart problems, and both her, momachu and brotherchu are all short stature. It isn’t just the face. It’s also not normal to have such a low and short forehead

          This app is used to help diagnose people. Thera why you have to be a provider etc to use it

          1. AnaAmethyst • Share • 6

            TIL That I, a female, am taller than brotherchu lmaooo wow

            1. perfect_fifths • Share • 8

              Yeah me too. By half a foot at least

      4. SentientSandwiches • Share • 2

        Fetal alcohol syndrome, it’s usually generational and she has all the text book features as does mamachu

        1. perfect_fifths • Share • 29

          To me it doesn’t look like fas.

        2. redactedhere • Share • 12

          FAS is **not** usually generational and 100% avoidable.

      5. thequeens_exit • Share • 1

        I look absolutely identical to my father and aunt and we don’t have any genetic disorders just strong genes 😭

        1. perfect_fifths • Share • 4

          Sure, but in the context of Tophia, they all have short stature (Brotherchu is 5’2 fully grown), Tophia had heart problems, and there is facial dysmorphia going on plus many other symptoms.

    2. Apprehensive-Leg-118 • Share • 47

      The family def got beat the shit out of with the ugly stick but they clearly have something else going on too lol

  3. Defiant-Art • Share • 74

    *what's not wrong with Tophia?

    1. perfect_fifths • Share • 10

      Fair 🤣🤣🤣

  4. vampyrewaifu • Share • 45

    I wanna point out that kbg syndrome features a curved pinky which tophia has, she tends to stick them out when holding anything not sure if due to mobility issue tho.
    Also Marie and brotherchu were born with extra fingers

    1. perfect_fifths • Share • 24

      Clinodactyly. Also, Tophia, brotherchu and mamachu are all short statue.

      1. elder_elbow • Share • 5

        stature

        1. perfect_fifths • Share • 5

          Yeah, ipad autocorrected

    2. peachtits4me • Share • 1

      Wait what? They had extra fingers?

  5. alonemisfit • Share • 28

    nah i agree w you. it looks more like kbg syndrome than fetal alcohol syndrome. i just did more research and downloaded that app.

    1. perfect_fifths • Share • 6

      You need to be a provider to have access, just as an fyi

      1. alonemisfit • Share • -9

        i’m not tho. i said i was but i’m not doing anything illegal ..

        1. perfect_fifths • Share • 9

          Okay. I guess you’ll see. My account had to be verified by the makers.

          1. alonemisfit • Share • -6

            ik it says pending but i just ran on there for a quick look. i’m gonna delete it.

  6. Hungry_Armadillo1882 • Share • 23

    “In the report of Skjei et al. [4], 46 clinically diagnosed patients were described: 83% had a height below centile 10 (-1.28 SDS) and 68% had a height below centile 3. Brancati et al. [6] reported that the mean stature in 8 adults with clinical KBG syndrome was 149 cm for women and 153.6 cm for men.”

    Fascinating considering Tophia is 5’ 2.5” and Marie is 4 ft something

    “Notably, about 40 per cent of KBG syndrome patients display heart defects, including problems with heart valves and the walls between heart chambers.”

    Again, fascinating since Toph has had two heart surgeries.

    1. perfect_fifths • Share • 17

      Brotherchu is also quite short, he is around the same height as Tophia.

      1. Hungry_Armadillo1882 • Share • 20

        Yep, here’s an arrest photo from u/CursedDecals. Note the redline for 5 ft

        1. perfect_fifths • Share • 14

          So he’s about 5’2. The extra twp inches of height are from hair sticking up

        2. CursedDecals • Share • 1

          Lol, thank you for sending me the pic I released. 🤣

      2. mimtens • Share • 3

        They look like triplets 😐

        1. perfect_fifths • Share • 1

          That’s not a good thing

      3. [deleted] • Share • 1

        [removed]

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    2. perfect_fifths • Share • 9

      Hey, good job, I’m proud of you haha

  7. MeeMawsBigToe • Share • 16

    I really think she has fetal alcohol syndrome. Long philtrum, webbed neck with low set ears, thin top lip, plus her very obvious mental incompetence

    1. perfect_fifths • Share • 19

      That wouldn’t explain the way her mom looks. Tophia look exactly like her mom to a t. And FAS didn’t come up, FAS kids look like this:

      1. Unique_Hovercraft623 • Share • 10

        D looks like Marie a little bit, but I agree FAS is probably more unlikely

        1. perfect_fifths • Share • 7

          If you look at the picture I posted. Persons I and M look like Tophia when you combine them. It’s I’s eyes and M’s nose and mouth.

          1. Alone-Net8016 • Share • 2

            If she drank during pregnancy would that affect it? She seems like someone who doesn’t know they’re pregnant until doctors say it

            1. perfect_fifths • Share • 6

              It’s genetic and dominant so 50/50 chance each pregnancy a kid would develop it. Drinking would affect things to a degree in terms of developmental and cognitive issues.

      2. MeeMawsBigToe • Share • 7

        The philtrum and thin lip looks similar to tophia. I have a cousin who has FAS and he has the same webbed neck and low set ears as her too. I definitely think FAS is contributing to her appearance.

      3. strawscandybunni • Share • 1

        Can’t she also have FAS and KBG at the same time? Obv it’s not confirmed but since Marie was a party girl, we can assume she drank while pregnant.

        1. perfect_fifths • Share • 1

          She doesn’t look like she has fas. But yes it is possible.

  8. Melancholicism • Share • 15

    the way the middle section of this graphic is essentially a tophia checklist. lmfao

  9. No_Garden_9995 • Share • 15

    reading the comments and even *I* am frustrated at how some were doubting you lol💀 you’re probably the one who has made the most accurate analysis in this subreddit without the chus actually going to get tested or sumn

    1. perfect_fifths • Share • 6

      Thank you. Genetics is an interest of mine and I work with kids who use genetic disorders.

  10. __Medusa__ • Share • 5

    What about Noonan Syndrome?

    1. perfect_fifths • Share • 10

      Here is the heat map for Noonans. It is not a match at all really except for the highlighted portion around the eye

    2. perfect_fifths • Share • 9

      Good question. Here is a heat map within face2gene. When there is a hit, the areas light up to indicate a match Here is the heat map for KBG. All the areas march with a composite photo. Noonans is very very low on the list and only has a match for the eye, hold on

      1. __Medusa__ • Share • 3

        I think you might be right. Doesnt Marie have hearing aids?

        1. perfect_fifths • Share • 5

          Yes, although I think she lost them

          1. __Medusa__ • Share • 2

            I know when I was pregnant, my doctor sent me out to have blood work and genetic testing to see if my baby would have any genetic issues. I was wondering if Marie’s doctor would told her the same but I forget that Marie is ancient and that wouldn’t even cross a doctor’s mind back then. Unless I’m wrong

            1. perfect_fifths • Share • 3

              That is if she even had any ob care, who knows

  11. anonymousx97 • Share • 3

    I’m not sure what she has but it’s very similar to these pics wow… they all have the same features

  12. hellokippy9k • Share • 1

    LMAO PWS. i mean the bitch can eat, but idk about no prader willi 😒🤣🤣 she really does look like she has FAS or cushings syndrome tho

  13. Physical-Neck-2871 • Share • 1

    how long do you have for me to answer this question?!

  14. picklejuice17 • Share • 1

    You're definitely right that it's not Williams Syndrome. I'm not a medical professional, but I've met a couple people with Williams Syndrome so if I get anything wrong please correct me. It's not just characterized by certain facial features, but also by developmental delays. They typically are also very sweet, childlike, and happy. They are some of the most precious people I've ever met.

    Tophia is none of that. Not only does she not display the physical characteristics of Williams Syndrome, but she sure isn't sweet and happy like them. She's childlike, but not in a cute way

    1. perfect_fifths • Share • 1

      This I a typical person with WS. Notice the starry eyed pattern. Tophia looks nothing like this.

      1. picklejuice17 • Share • 1

        Exactly! Regarding the KBG Syndrome theory, all I can tell you is that it is pretty rare, or at severely underreported. Only about 100 people have currently been sufficiently diagnosed according to the research I've done on it so far. Tophia, Mamachu, and Brotherchu could be one of those unreported cases if they do have it. You know they're not gonna go to any doctor though

        1. perfect_fifths • Share • 1

          Correct.

          I personally live with a rare disorder myself of only 250 worldwide. But I’m not stupid and know I need specialized care.

  15. arealnineinchnailer • Share • -3

    you sir, have won the internet today

    ![gif](giphy|BoCGrhPGv4BHpGkPQl)

  16. PipedInFromIthaca • Share • -11

    I'm still leaning on FASD. It makes the most sense imo.

    1. perfect_fifths • Share • 12

      But she looks just like her mom and FAS isn’t inherited.

      1. PipedInFromIthaca • Share • 1

        She looks as much like her mother as most people do.

        1. perfect_fifths • Share • 10

          No. She is literal carbon copy of her mom. As soon as I saw her mom I said oh crap, it’s like Tophia in the mirror. It’s not normal to look identical to a parent to this degree, trust me. This happened in my family as well for five generations and it ended up being a rare genetic disorder

          1. PipedInFromIthaca • Share • -7

            I think you're overexaggerating how similar they look. Marie has strong genes but they're not like identical twins or anything. Marie's gums aren't as pronounced, for one thing, which is something you immediately notice with Toph. I think it's just a strong family resemblence.

            1. perfect_fifths • Share • 7

              To me they do look identical. But it’s not fas, face2gene has an extremely high accuracy rate with the top 3 disorders being the correct one nearly all the time. The chances of it being something else are slim to none

            2. perfect_fifths • Share • 6

              Maybe you I’ll change your mind with this heat map. It matches areas between a composite photo and a provided photo. Here, it’s saying the facial features are a very high match for KBG

            3. alonemisfit • Share • 2

              toohia does have a low antertior hairline tho & maybe ptosis.

              1. perfect_fifths • Share • 8

                Her face fat is also contributing to her looking a little more special then she would normally

  17. Enough_Bag2775 • Share • -12

    Who cares, to me age suffers of being a stupid twat syndrome.

  18. Exact-Sorbet-2292 • Share • -12

    kinda weird yall are guessing what disorder she has, not throwing shade just sayin

    1. perfect_fifths • Share • 15

      It’s not weird. I take care of kids with genetic conditions as part of my job. Wanting an answer to something that seems unusual is literally the whole point of the field of genetics, along with research, genetic counseling, prevention etc.

      1. Exact-Sorbet-2292 • Share • -10

        alrighty, just sayingg

    2. redactedhere • Share • 5

      I’m not sure why they downvoted you because it IS weird. Everyone tries to analyze her with no basic knowledge of anything. Just finding another way to deem her different. Tophia is just a disgusting person and we should focus on that

      1. Exact-Sorbet-2292 • Share • 5

        🙏🏻🙏🏻🙏🏻💯

      2. perfect_fifths • Share • 4

        Basic knowledge? Genetics is my special interest and I work with kids who have genetic disorders for a living.

        1. redactedhere • Share • -1

          ..? Then I wasn’t talking about you. You’re not the first person on this sub to try to diagnose Tophia.

          1. perfect_fifths • Share • 2

            I know. That’s why I stated that it’s unlikely she has other disorders previously mentioned.

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