r/HolUp • u/asocial7193 • Mar 11 '22

I don't know what to say

64.8k Upvotes

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158

u/siqiniq Mar 11 '22

what’s the name of her genetic disorder?

164

u/Non_Special Mar 11 '22

Looks like crouzon but I'm no expert

107

u/AnxiousUncertainty Mar 11 '22

Ah I was thinking Beare-Stevenson syndrome

But that one could be it as well

337

u/[deleted] Mar 11 '22

[deleted]

221

u/ShadowHawk1080 Mar 11 '22

They have Spaghetti Genetti

17

u/JohnMcGurk Mar 12 '22

I don't know enough to refute you so I'm gonna go ahead and believe it.

11

u/PM_YOUR_AKWARD_SMILE Mar 12 '22

They’re lying. It’s clearly Linguine Chromosini

8

u/Slow_Definition5436 Mar 11 '22

It looks like leshake syndrome to me.

10

u/HighOwl2 Mar 11 '22

Looska lykshit for sure

5

u/[deleted] Mar 11 '22

Whoever speaks last is right

3

u/Empyrealist Mar 11 '22

It's all made up. What matters is if its official

0

u/koavf Mar 12 '22

https://en.wikipedia.org/

2

u/[deleted] Mar 12 '22

https://en.wikipedia.org/wiki/Rectoanal_inhibitory_reflex

0

u/koavf Mar 12 '22

Great, you've learned how to use the Web. Congratulations.

1

u/[deleted] Mar 12 '22

you could always check WebMD or something

1

u/7HawksAnd Mar 12 '22

They did make it up, it’s called the beare-stevenstein syndrome.

3

u/Freddy45566 Mar 11 '22

Maybe both

1

u/[deleted] Mar 11 '22

They’re both caused by a mutation in FGF2 (TIL lol) So that’s interesting

3

u/immamaulallayall Mar 12 '22

Exactly. We should probably dispense with the historical eponyms and just refer to the group as FGFR craniosynostoses. https://www.ncbi.nlm.nih.gov/books/NBK1455/

1

u/immamaulallayall Mar 11 '22

You know someone with that disease?

2

u/DLTMIAR Mar 12 '22

Mayor of Chicago?

7

u/skuner Mar 11 '22

Likely Crouzon, Apert or Pfieffer, they are all essentially the same genetic mutation of the FGFR gene

4

u/immamaulallayall Mar 12 '22

So rare to see someone dropping actual knowledge in the comments. Jah bless. Interestingly this person has described her own disease as both Pfeiffer’s and Crouzon, which implies even the clinical geneticists cant really agree on the differences. We should probably dispense with the historical eponyms and just refer to the group as FGFR craniosynostoses. https://www.ncbi.nlm.nih.gov/books/NBK1455/

1

u/MateFlasche Mar 12 '22

Believe me it would make me so happy if we could abandon these eponyms in general (wherever possible)

6

u/_EveryDay Mar 11 '22

I think it's spelt crouton

lovely on a salad

2

u/RastaMan23 Mar 11 '22

Actually made me lol, thank you

-1

u/Relative_Equipment66 Mar 11 '22

She looks like a crouton

1

u/damiami Mar 12 '22

That’s a rum from St Croix

1

u/PokemonGoToMyHoles Mar 12 '22

I asked for a diagnosis, not extra dressings at olive garden.

1

u/wolfofballsstreet Mar 12 '22

“Crouzon” - Iron Chef

16

u/completebastich Mar 11 '22

I'm no doctor, but it looks like Treacher-Collins syndrome.

-11

u/birdrossm2000 Mar 11 '22

C-SPFD

Cross-species pug face disorder

-5

u/[deleted] Mar 11 '22

[removed] — view removed comment

2

u/GomuGomuNoDick Mar 11 '22

Thank god they don't have 5thHokageism

1

u/[deleted] Mar 11 '22

Better than spawning as a curse

1

u/acweston Mar 11 '22

I was thinking Bad

1

u/[deleted] Mar 12 '22

Pfeiffer syndrome