A friend of mine's 4th daughter had question makrs abotu her when she was born. It took a loooong time to get a diagnosis - and even then, it is not a definitive one, as they haven't yet identified the gene, so the disgnosis of "Kabuki" syndrom is done more on the bais of the accumulation of mearkers.
These are (from memory): a particular exaggerated eye shape (hence the name, after the Japanese dancers), poor muscle tone, a mssing part to a little finger, something to do with the apearance/location ears, feeding problems (she ended up having an NGT tube - not a probelm for them as they are both medics), possible hip problems, possible growth problems.
Having said that, this wee girl, who is now rising 8, is a lovely happy wee girl and is my god daughter. She is small, and has a some mobility problems (she had to have her hips doen, and has an artifical "turn-out" to minimuse wear on the joint) and does have an LSA at school. But she can read, has friends and is very much loved. She may never be able to live independenlty, as she doesn't have a concept of danger, but who knows? My friend never thought she'd be able to read and she can, fluently.
I know my friend did have problems with HVs making silly statements like "you should be feeding her cheese sandwiches by now" - this was at something like 5 months, to a child who still had a NGT tube. And to a mother who was a GP herslef! But it goes to show that even GPs can be pissed off by HVs - and even she had a crisis of confidience and double checked with the ditiecian at the hopsital that she wasn't being stupid!
All of that rambling is really jsut to say you may never get a definitive diagnosis - but you will work out a way though it all and work out what she needs whatever the lable attached. You do have an adorbale wee girl who is loved and cherieshed whatever the ultimate dx.