anyone know ? achondroplasia

[Mawma]

i'm posting this for a very good friend of mine who has recently had a baby.

when the baby was born a midwife said his arms were too short, so after a week of scans and x-rays and blood tests nothing has shown

but on the midwifery notes it states short limbs and low set ears, my friend is now convinced her baby has a type of dwarfism and doesn't know where to turn, also the baby doesn't cry but makes sounds but not proper crying but baby is very content, they said they will review the baby in a few months

i was wondering if anyone on here has any knowledge of achondroplasia signs/symptoms to look out for

There are over 200 types of dwarfism, achondroplasia is the most common type, but it can be quite reliably ruled out via blood test and x-rays. Other types are much harder to diagnose/rule out. If at this point they can't come up with a diagnosis there is probably not much else that can be done other than to wait. I have gone through this with my ds who is now 16 months. He has a type of dwarfism but we still don't know which type. A lot of patience is required! I know it is hard. The crying is quite possibly a separate issue, is he feeding okay?

You/your friend are welcome to e/mail me

emkana at gmx dot net

Another thing: This is a very good place to turn to with questions about dwarfism

groups.yahoo.com/group/parentsoflittlepeople2/

What emkana's forgotten to say is that her DS is TOTALLY gorgeous and has a large MN fan club...

thanks thats great emkana, i think i will pass on your email add to my friend but obviously it might take her a while to email as baby is only 2 weeks old and she is recovering from em c/section,

just now i think she is more worried that they can't tell her anymore, i also think the doctors don't know either but obviously as you said ruled out achondroplasia because he had all the blood tests and x-rays, he really is perfect but his tiny features and short limbs are noticable but we think he looks in proportion if that makes sense

also emkana did you have a problem when pregnant with your little boy with having too much fluid, my friend had far too much and doctors induced her 2weeks early, my friend was wondering if too much fluid is associated with dwarfism but doctor said they didn't know!

Yes I'm afraid too much fluid is one of the prenatal indicators for dwarfism, I had too much fluid as well.

There are some types of dwarfism where the baby is in proportion, but just small. And the proportions can change over time as well. Unfortunately a lot of patience is required in the wait for a diagnosis.

Tell your friend she's welcome to e/mail me any time she likes.