Moonins/Moomins Disease/Syndrome? Help!

[Dinosauraddict]

Ok I am desperately hoping someone has heard of this/can tell me what it is? My DH has two cousins with this and it's apparently similar to Down's syndrome, and is an abnormality from birth. We mentioned it to the MW but she's never heard of it. I can't find anything about it online. Is it Scottish slang for Down's? (I also have Down's on my side of the family, so we want to make sure we can be prepared with tests etc...)

Don’t think it’s slang for Downs - could they mean Noonan syndrome?

Could DH ask his family more about it?

Sounds like you've misheard Noonan's Syndrome.

Noonan? That could very well be it!! What is it?! (Sorry my DH was brought up in care so can't just pick up the phone and ask them to explain to us!)

I've just googled it, you're all stars thank you!!

www.nhs.uk/conditions/noonan-syndrome/

Not good. Sorry, OP.

Thanks @Gingernaut scary but I would rather be informed.

Having Downs in the family only increases your risk if they have the (much much rarer) translocational Downs. I think it’s 95% of individuals with Downs have the ‘normal’ trisomy 21 variant which is just a genetic blip in the womb. It’s like 1/2% have translocational and 3/4% have mosaic. Happy to talk more about this one as is something we’ve looked into a lot as my nephew was born with Downs.

Noonans is another genetic condition which I believe can be hereditary if the gene is passed on. I don’t know as much about it as no personal experience on this one.