Suggest Ways To Detect Dwarfism In A Child

Posted on Mon, 5 Dec 2016

Question: My daughter is very small for her age her weight is 7% and height is 4% and her head is 97%. I asked the doctor about dwarfism because of the small size and head difference. I have a large head and my other children (boys) have larger heads theirs were all in the 90s as well but they werent as short as her they were short but not like this. the doctor does not seem concerned

Answered by Dr. Diptanshu Das (45 minutes later)

Brief Answer:
You have not mentioned her age.

Detailed Answer:
Thanks for asking on HealthcareMagic.

In achondroplasia (a form of drarfism) one's head usually larger although one's trunk is usually of average size, one's limbs being proportionately shorter. It is possible that your daughter has it. The family history of larger heads seems corroborative. However, it is hard to comment without a thorough clinical evaluation of both the child as well as the family members. Since the doctor does not seem concerned, it is indeed a bit of relief. Nevertheless, you should go for a genetic counselling and get her evaluated.

Let me know if I could help further.

Regards

Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar

Follow up: Dr. Diptanshu Das (40 minutes later)

My daughter is about to be two? For genetic testing wouldn't I need a referral ? Her arms and legs are not short though? She doesn't fall off the charts

Answered by Dr. Diptanshu Das (13 minutes later)

Brief Answer:
PCP can refer if felt needed

Detailed Answer:
Thanks for writing back.

That her limbs are fine, is reassuring but your primary care physician (PCP) can be a better judge of the situation. Yes, referral would be needed and your PCP would be able to write it for you.

Regards

Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar

Follow up: Dr. Diptanshu Das (20 minutes later)

Ok well she doesn't see the need but are there times when nothing can be wrong if the head is big not off charts but big the body be smaller I mean I'm 5'4 which is average and 5'7 which is average for a man

Answered by Dr. Diptanshu Das (8 hours later)

Brief Answer:
Genetics still likely to play a role.

Detailed Answer:
Thanks for writing back. One thing is clear that possibly there are certain genes in your family gene pool that predispose you to having some structural variations like the larger head. That might not really be a cause for concern. It could be that the combination of certain recessive genes is responsible for the smaller body. I have no way of clinically evaluating the child. Hence you would need to discuss about the decision for the need of getting a genetic counselling with your treating physician.

Regards

Above answer was peer-reviewed by : Dr. Chakravarthy Mazumdar

Follow up: Dr. Diptanshu Das (20 hours later)

But more than likely something is wrong? In this situation is something usually wrong?

Answered by Dr. Diptanshu Das (5 hours later)

Brief Answer:
The underlying facts need to be understood

Detailed Answer:
Thanks for writing back.

It is not a matter of right and wrong. It is a matter of genetics and the role it plays. The genes vary from person to person. There are certain genes in your family gene pool whose dynamics need to be kept in consideration and certain steps might ensure that two recessives do not combine to give a worse outcome. These dynamics can be analyzed and explained by a geneticist.

Regards

Above answer was peer-reviewed by : Dr. Nagamani Ng

Follow up: Dr. Diptanshu Das (10 minutes later)

Ok one more question could it be hormonal ?

Answered by Dr. Diptanshu Das (1 hour later)

Brief Answer:
Not directly.

Detailed Answer:
Thanks again for writing back.

Directly speaking, the answer is no. But you need to understand that growth is mediated by a hormone called growth hormone. Changes in growth pattern are therefore essentially related to levels of growth hormone. But that does not mean that you can do anything about it. It would not be advisable to try injecting growth hormone.

Regards

Above answer was peer-reviewed by : Dr. Nagamani Ng

Follow up: Dr. Diptanshu Das (8 hours later)

I don't know what it could be then? I mean because signs of achondroplasia are usually very obvious and they usually don't stay on the growth chart right

Answered by Dr. Diptanshu Das (2 minutes later)

Brief Answer:
That is the exact reason I am insisting you to go for a genetic counselling

Detailed Answer:
It is hard to comment definitively without considering the traits in your family. That is the exact reason I am insisting you to go in for a genetic counselling.

Regards

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Above answer was peer-reviewed by : Dr. Yogesh D