Achondroplasia - Is it always diagnosed at birth or are some children diagnosed later?

[BonnieBumble]

I have often wondered if ds2 has this condition but too scared to say anything to anyone. I haven't even voiced my concerns with dh.

Ds2 is fairly short for his age but that is to be expected as both dh and I are short. Ds is 2.5 and needs to wear age 2-3 tops and coats because they ride up his back as he has quite a long body but for trousers I find that even aged 12-18 months are too long in the length as he has short legs. He has a fairly prominent forehead, in some photos it is very prominent. He has been fairly slow to talk, he is improving more lately but I struggle to understand him as he seems to form words from the back of his throat.

Developmentally wise he is doing well in other areas, knows some letters and numbers and has fantastic memory recall. He didn't crawl but was a very early walker, walking by 10 months.

If I look at photos of children with this condition, I can see similarities with ds. However looking at photos of dh as a baby he looked similar.

He is utterly gorgeous but I just have this nagging at the back of my mind and don't want to talk to anyone in rl about it.

As far as I know it is noted at birth and also on prebirth scans with an obvious underdevelopment of the long bones in the arms and legs. I am just aware of this and there may be other forms/milder forms so if you are worried get him seen by your GP or discuss it with your HV. By all means talk to your DH. Sometimes we have fears that grow out of control and it just takes someone to say 'don't be silly, such and such...' before you see your fears are groundless! Small stature is common in shorter (I am one) people. I think if the HV is happy with DSs growth on their charts I would stop worrying.

where is he on the charts in his red book?

so long as he is on the chart and continues to grow then dont worry.

if he is off the bottom of the charts and/or is falling off the centiles then ask gp for a referral to growth clinic . growth clinic looks at rate of growth. if you do get referred then they would have one appt taking measurements, then another in six months to check rate of growth (overall and for eg legs, arms etc) .

it would only be on the second appt when they ahve a clear picture (red book figures recorded by hv etc are not always consistent) that they would follow up eg blood tests etc.

you could also try measuring yourself now - measure legs arms height etc. then do so again in six months and check what is and isnt growing.

www.fpnotebook.com/endo/exam/MdprntlHght.htm tells you how to work out predicted height based on parental height

or www.calculator.net/height-calculator.html

Thanks. Dh and I are both on the 25th centile and I just looked in the red book and ds is also on the 25th centile.

I think I was being a bit silly. I just worry about things unnecessarily some times. I took ds1 to the GP when he was a toddler because I thought he had spina bifida when he quite clearly hasn't.

Thanks for the reassurance everyone.