DD’s face, is this normal?

[Kanfuzed123]

Dd is 2.5 and it’s been remarked that she has a mildly triangular face, prominent philtrum, slightly downturned almost eyes. I’d never noticed these things before but a referral to genetics has been recommended (obviously the wait is insane).

She has now delays, no hypotonia, it’s proportionate but small.

Anyone else had this?

Did you mean to add a pic?

What have they said they are investigating?

Are those markers of a specific condition?

There are some genetic conditions with these features that are common with short stature.

They don't come with learning difficulties as a common Co morbidity.

Did she have low birth weight?

They maybe trying to see if she has one of the known genes for this as she has features.

They should have explained why they are doing the tests. Who ordered them and how did it come about they wanted genetic testing?

My ds has a rare genetic missense gene. It's scary and hard during the waiting game (Genetics are still catching up from covid.) but remember a diagnosis is not a prognosis.

My ds is autistic with a rare physical disability and is a very good para swimmer nationally with potential to go further.

She was low birth weight yes, 5lb at 37 weeks… no proof of growth restriction though, measured 7% on my growth charts and growth scans were pretty accurate.

she saw an endo for her height and they said she didn’t have dysmorphic facial features so they didn’t believe that genetic testing was necessary and she’s around 15th centile for height and weight.

id add a pic but it’s very outing for obvious reasons lol.

If you aren't sure what they are thinking then I'd contact whoever made the referral. I, guessing you've been under paediatrics for a reason already?

We did a screening test from the magic foundation in the states, that’s where the question around facial features came up. Her paed referred her to endo because her height fell and her weight fell later, he said if she continues to genetics might be needed but she since rebounded

I'd ask for her to be tested sooner rather than later, @Kanfuzed123.

I had one baby who was suspected of having DS (went on to have a negative genetic study), and another who was seemingly 'normal' at birth who went on to have characteristics that were not normal - after testing it was clear that they have a genetic disorder.
I'm very sorry if that sounds brutal. I spent long moments looking at my beautiful babies, wondering if there was something wrong.
The only way to set your mind at rest (or to know what is coming - I really hope for you that all is well) is to get your little girl tested.
I really hope for you that the results are nothing you need to worry about.
I wouldn't usually say it, because the NHS should be able to help you out with this, but if the timeframes are too long for you, if you can afford it, go private. The agony of waiting for testing let alone results, on the NHS, might be too long for you.
I really hope it all turns out well for you and your girl.

The nhs won’t refer her to genetics at all. Her paediatrician wants to discharge her as her height and weight are normal and she has no delays, and the endo said she doesn’t have dysmorphic facial features so there is no grounds to refer her. It was just the magic screening that flagged up those things, and asked if she was delayed in her gross motor skills and had hypotonia ( no to both). I never thought that she looked abnormal prior to that, I suppose she has a mildly triangular face and curly 4th toes but I just tended to think it was a variation of normal. I was just hoping for a little perspective on it, I don’t want to be sending the message to her that she looks abnormal and to pathologise normal if that makes sense. Plus i think genetic testing is about £1k at least, don’t really have it to burn but could find it necessary I suppose.

@Kanfuzed123, in that case the only thing you can go by is if she's achieving her milestones within the usual range.
If your DD is, then maybe there is nothing to worry about. (I've been in both situations - where there's something not right and where things settled down and were ok.)

Take some time to think about what you want to do.

In the situation that you've described, I think I'd hold on for a few more months (I know that may well be difficult), and see what you think then.
I know it's not easy when you're wondering if your child is 'normal'. Neither of mine are, in the usual sense of the word. But, they've both gone on to make their mark on the world one way or another.