Kabuki syndrome

[Blue12]

Has anyone heard of this diagnosis before and have any insight or experience?

I know someone who is trying to decide if they should do genetic testing or not but they have come across this syndrome (as a result of googling) and wonder if this could be the diagnosis and avoid having genetic testing done. Their child is developmentally delayed, was born with an extra type finger, hypermobility, low set ears and some distinctive features. Do you have a child or know a child with this.

Thank you

 

[RachA]

A child who attended preschool at the same time as my children has this.
I'm not sure what the trade mark signs of it are though.
The child I know couldn't walk but I think she can now with help. She also goes to a mainstream school and is getting on ok.
Personally I'd go for the genetic testing to be 100% sure.

 

[MainelyMaine]

I have a child with kabuki syndrome. There is an extremely active international facebook group with nearly 900 parents that I recommend your friend look for, even though she's uncertain about the diagnosis. They give great advice about the practitioners, testing options, etc.

It's a closed group, so she'll need to click on the Request to Join and an admin will add her.

Momtastic won't let me post the link b/c I have less than 10 posts (your post came up in my google alert and I joined just to reply), but go to facebook and search for the group.