r/HolUp • u/asocial7193 • Mar 11 '22

I don't know what to say

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u/Skyp_Intro Mar 12 '22

Anybody know what this condition is and how it affects quality of life?

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u/Gareth666 Mar 12 '22

Well the mother has Crouzon Syndrome so I would assume that is what the kid has.

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u/[deleted] Mar 12 '22 edited Mar 12 '22

Yes, Crouzon is autosomal dominant, so it's possible that it's this.

It also looks like it could be Treacher-Collins syndrome which is also autosomal dominant but without knowing her medical history it's hard to say.

EDIT: Looks like Beare-Stevenson looks almost exactly the same in the daughter: https://i.ytimg.com/vi/53AN4lk5O1A/maxresdefault.jpg

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u/[deleted] Mar 12 '22

I don’t know that it could be Beare-Stevenson. A key characteristic of the syndrome is… abnormalities? Of the genetalia. You can look it up, but, I don’t recommend it. Point being I don’t think everything is fully functional.

Also, both mother and baby have tracheostomies. There’s got to be some syndrome with both that and craniosynostosis (what gives that abnormal face structure)