Genetic microarray, endocrinology, faltering growth or noonan syndrome? Anyone?

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I’ll keep this brief. DD is 26 months (for growth chart purposes) she’s v small. She was born 7th centile on my pregnancy growth charts but 2nd red book charts 2.3kg and 46cm, head 32.5. Our mid parental height is 50th, so the ‘normal range’ is between 9th and 91st centile for our kids. We saw MFM in pregnancy and all dopplers were normal, she tracked her centile and NIPT testing was negative across all major chromosomal abnormalities so they didn’t think an amnio necessary. Placenta looked normal at birth too so wasn’t tested.

By 10 months she’s got to between 9/25th for height and just under 25th for weight. HV weren’t happy, told us to force feed, as first time parents we didn’t go with our gut instincts and ignore this advice, we never forced her (thank god) but we definitely felt the pressure to get her to eat more. This resulted in her refusing food, she never lost weight but she fell down closer to the 9th for weight and despite eating well now she’s never recovered entirely (she’s between 9/25 for weight) but it looks like her height is falling, think she’s under 9th now.

So she meets the criteria for an endocrinologist referral. But I’ve also been advised to push for a genetics one as she might have noonan syndrome? I’ve had a google and she doesn’t have any heart conditions and is developmentally on track. But it’s got me worried. Some rarer forms of dwarfism have also been mentioned as part of a support group for small kids.

Has anyone had a genetic microarray done on the nhs?

Some crucial points, she’s proportionate head is around 25th weight 15th and height under 9th. She’s about 82.5/83cm (but it’s very difficult to measure her), 10.3/4 kg, not sure of her head. She’s developmentally spot on and comparing her to her peers she does look small but not excessively so. She’s had fbc with igf and coeliac screening and everything was normal.

Has anyone gone through this? Did you get a microarray on the nhs, how long did it take to get the results? I can’t shake the guilt, feel like I’ve let her down by her being born small

Hi OP,

I’m sorry to hear that you are so worried.
I’d advise you raise the concerns with your daughter’s GP and request genetic screening (you can get it on the NHS).
My daughter has a very rare form of Arthrogryposis and has had every possible genetic test (she was on the 100,000 genome project).
They found nothing genetic.
Try to remember that many children are small - she’s not off the chart (as my DD was when born and in utero - below the first centile).
She shot up to the 95th centile by the time she was two. She’s 4 now and outgrown age 5-6.
However I say all that with the caveat that she is severely disabled (she’s mentally disabled but hard to assess how much because she is non verbal but she shows she has an excellent memory).
I’m not medically qualified but I think you’d know if she had Noonan syndrome.
Remember the centile positions are ALL normal- someone has to be at the top and some at the bottom.
And she sounds like she’s developing normally but is just small. She’s still very young…
I’d strongly recommend speaking to a GP and if necessary ask for a referral to a paediatric consultant.

She might just be small? My DD was tiny at birth 1.6kg, HC 29.5cm (IUGR, born at 36 weeks). She’s 19 months now and was 9.8kg when I weighed her about a month ago and 78cm. She’s tiny compared to kids her age, 12-18 month clothes still big on her.

If she’s developing on track then I wouldn’t worry; some kids are just small!

Judging from the info you’ve given she is most likely just short. A child with two average sized parents is more likely to be between 9-50th centile than 50-99 for height. The children who push up to 50-99 for height tend to have one tall parent.

I thought they worked if a child reduced their percentile as they got older, not if they are small but remained the same? But yes i think if you are worried an endocrinologist would be the next step.

DS has a chromosomal condition. I think with only weight problems that would be highly unlikely to be honest. They would look at other problems including heart problems, dysmorphic facial features, palate problems, developmental delay etc - low weight is just one of hundreds of symptoms.

• worried not worked!

She's not very small! Just small. Tracking her centile line perfectly and within expected given your heights. No developmental concerns and no features commonly found in those with generic abnormalities. She sounds entirely normal don't worry.

For reference ds was 0.4 centile till he was 2.5 - now that's small! (Now 5'6 as an adult.)

@Asdawindowandglass I think it’s faltering growth and a child that’s not ‘caught up’ by 2. She’s fallen a centile basically height wise but not weight wise but she’s incredibly difficult to measure and easier to weigh lol.

I’m 5’3 and small In build, DH is 5’10 but also of small build. Would almost be ‘easier’ if we knew she was an fgr/ iugr baby. I had terrible anxiety in pregnancy due to basically a series of medical blunders and my manager threatening to sack me because I was pregnant and I can’t help but wonder if that contributed to her smallness, esp because DS born last week is a long and chunky boy

@Vicky1989x

She might just be small? My DD was tiny at birth 1.6kg, HC 29.5cm (IUGR, born at 36 weeks). She’s 19 months now and was 9.8kg when I weighed her about a month ago and 78cm. She’s tiny compared to kids her age, 12-18 month clothes still big on her.

If she’s developing on track then I wouldn’t worry; some kids are just small!

That’s similar to DD, she was weighed at 20 months and was 9.88kg and 80.5 cm length that’s when we’d noticed she’d fallen from her height curve.

Your daughter has caught up really well given how diddy she was xx

It’s measured in bands though - so as long as she is still between the 2nd and 9th she would be fine. Most kids waiver within bands. Also they don’t care about height these days only weight - I think DS has been measured once for his length and he is at doctors’ appointments constantly.

I honestly don’t think anxiety whilst pregnant will have affected her - women have babies in war zones after all. I think getting a referral would be a great idea to double check and to get some reassurance but maybe also some counselling would help you be less anxious about you andDD’s health?

She’s under a paediatrician anyway as the HVs just couldn’t wrap their heads around an SGA baby and gave us constant grief.

How the paed explained it to us is the normal range for her based on our mid parental height is from the 9th to 91st centile, if she falls below that she qualifies for an endo referral and maybe GHT (not sure on the second part, I’ve read conflicting info and the guidelines aren’t clear at all).

Her paed doesn’t think there is anything genetically wrong with her as she’s proportionate, symmetrical and has no delays, but then the support group mentioned there are 400 types of skeletal dysplasia and she could have one of those and then based on a pic of her someone mentioned noonan syndrome but the only thing she has from that is short stature and you could maybe say slightly heavy eyelids but tbh they look normal to me

I think it sounds like she's just small, tbh.

DD1 has some sort of unidentified genetic syndrome. She was in the DDD study, then 100,000 genomes. They still haven't found it. She has mild clinodactyly in her fingers, hammer toes (I think they call it), a brain malformation (cortical dysplasia), epicanthal folds, can only wrinkle one side of her nose and she has ASD.

You'd think they would be able to find something, but so far no.

Hi @Namechangetimes100

Both my DD's were small born and grew slowly, I was told to supplement breastmilk, increase calories etc but didn't because by chance I had a friend who was a midwife and nd (USA) who said it was just drs wanting fat kids. They grew slowly as toddlers too, as full grown adults they are shorter than me, one is only 5'1 the other 5'5 so not short. I resisted tests so I don't know if they have some reason they grew slowly, but they went into puberty late (15 & 16) so continued growing later than girls typically do (around 18!)

If your dc is on the charts and proportionate height and weight I wouldn't be too unduely concerned, but it wouldn't hurt to have some tests done

It’s that statistic that’s slightly concerning that 90% of sga kiddos catch up by 2 and then outstanding 10% never will without help. It’s the question if something pathological is hindering her growth?

@gogohm

Hi *@Namechangetimes100*

Both my DD's were small born and grew slowly, I was told to supplement breastmilk, increase calories etc but didn't because by chance I had a friend who was a midwife and nd (USA) who said it was just drs wanting fat kids. They grew slowly as toddlers too, as full grown adults they are shorter than me, one is only 5'1 the other 5'5 so not short. I resisted tests so I don't know if they have some reason they grew slowly, but they went into puberty late (15 & 16) so continued growing later than girls typically do (around 18!)

If your dc is on the charts and proportionate height and weight I wouldn't be too unduely concerned, but it wouldn't hurt to have some tests done

Hi @gogohm how big were they are birth? Did they have a growth spurt? What’s your mph? DDs paed said a growth spurt is unlikely, not sure what he’s basing it on. It’s not so much now I’m worried about but if she falls further away from her curve (she’s already dropped a centile) and her knowing she looks visibly different to her peers x

I'm a little confused by your post.
she was monitored thoroughly during pregnancy and although smaller than average grew at a normal weight and was 7th centile at birth since when she has hovered above and below the 9th centile line.She is now 26 months.You and your DH are average height. In other ways she is developing normally.
She is small but reasonably well in proportion .It is likely that when she starts school she won't be the smallest in the he class.
You are under the care of a paediatrician already.Are they aware of your worries?
They can refer her to a growth clinic if you are worried as indeed can your GP .
A tiny blip in height line is almost always related to the difficult with accurate measuring and the clinic might well suggest monitoring for longer eg measuring every 3 months for a year or so .
Whatever, I would discuss with your paed as to what they advise.
Anecdotally, in two parts of my family( not related) there are very small adults with normal sized parents , it's just a question of which genes they inherited.

Hi, my daughter is exactly the same age/height/weight as yours. Small but meeting all her milestones etc. The HV has never been concerned - someone has to be the small one or the charts wouldn't make sense. The margins are so small at that age, the difference between being 7th percentile (not ok) and 9th (just inside the "ok" bracket) must be a matter of a few ounces. Do you have any concerns yourself or just ideas put into your head by healthcare professionals who don't actually know your daughter?

@yikesanotherbooboo

I'm a little confused by your post. she was monitored thoroughly during pregnancy and although smaller than average grew at a normal weight and was 7th centile at birth since when she has hovered above and below the 9th centile line.She is now 26 months.You and your DH are average height. In other ways she is developing normally. She is small but reasonably well in proportion .It is likely that when she starts school she won't be the smallest in the he class. You are under the care of a paediatrician already.Are they aware of your worries? They can refer her to a growth clinic if you are worried as indeed can your GP . A tiny blip in height line is almost always related to the difficult with accurate measuring and the clinic might well suggest monitoring for longer eg measuring every 3 months for a year or so . Whatever, I would discuss with your paed as to what they advise. Anecdotally, in two parts of my family( not related) there are very small adults with normal sized parents , it's just a question of which genes they inherited.

Sorry it’s confusing. So on my pregnancy personalised growth charts she was 7th centile but at birth that translates to 2nd centile in the red book charts. Our HV team were never happy with her weight gain, she didn’t gain fast enough according to them. She climbed from 2nd to 9th centile by 6 months and then from 6-12 months just under 25th. They weren’t happy at all at her one year check, then despite being prime pandemic came to the house every 3 weeks to weigh her. It was then we paid to see a paed who referred us back to the nhs as she was sga.

The paed was the one who made us aware that she fits the NICE criteria for an endocrinology referral at her last check as she is now more than 2 standard deviations below MPH, which is considered ‘abnormal’. She’d fallen a centile at the last appointment so her follow up was moved closer to see if it was a blip or not, now it doesn’t look like a blip as she’s not gone back up.

@sadmad I do have concerns as we never really knew what caused her to be so small In utero and my son was quite large in comparison, so it’s not that I just have small babies.
We used to, not so much anymore, get a lot of comments from people on the street saying how small she was, someone even asked if she had dwarfism. That’s been compounded by a lot of HVs who’ve just arbitrarily put her height down to not eating enough, even though her weight is higher than her height now and their advice before led to a huge food aversion x

Is it the support group that suggested skeletal dysplasia, noonan syndrome and dwarfism? I honestly think push for the endocrine referral but stay away from google and Facebook groups, they have so much rubbish in them.

When I put in your heights I’m getting mid parental height as 162cm for a girl, which is between 25 and 50th centile - but closer to 25th. So I think your DD is still within normal limits. Plus measuring a 26 month old is super unreliable and they tend to be a little shorter when measured standing than when done by length. I might have got it wrong though. I think you need to start off by seeing GP and talking it through.

It’s not just your height and your husbands they will consider but your parents and grandparents too. Our son was v small and I was concerned. But they said likely due to grandparents etc who was small in the past...his growth hormones were fine and he’s now on the small side of his peers (age 5) but some are smaller and many taller

Yeah you’re right @Asdawindowandglass It was the support group that suggested noonan and dwarfism.

@chinateapot she’s the worst too, won’t actually stand up, stands on one leg, bends down and then has a tantrum. At least with weight I can jump on the scales and hold her, yeah you’re right at 2 the swap to height and they’re usually shorter height than length probably gravity lol. We’re under a paed anyway so we’d bypass the GP and go straight to them. The paed had agreed at our last appointment she’d fallen outside of her normal range but wasn’t sure why as her weight was still there so it’s unlikely to be nutrition related. So he ordered tests for igf and coeliac which all came back clear. She’s always Unwell too (fbc normal) but I wonder if that plays a role?