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General Information about Achondroplasia

Achondroplasia is a disorder of bone growth. Achondroplasia literally means "without cartilage formation". The problem in this condition is converting the cartilage into bones, particularly the long bones. Achondroplasia is a genetic (inherited) condition that results in abnormally short stature. All persons with achondroplasia are little people. The average height of an adult with achondroplasia is 131 cm (52 inches, or 4 foot 4) in males and 124 cm (49 inches, or 4 foot 1) in females.


Achondroplasia is one of the oldest known birth defects. An average figure worldwide is approximately 1 in 25,000 births.

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Member Comments (13)
Posted by: alaka56 Posted on: 10/25/2009
hey i am a student of unilorin in nigeria and i am researching on achondroplasia. i need to know something about its history and discovery but it seems like am not finding answers... i need sombody on this pls...

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Posted by: laureen Posted on: 10/12/2009
hey all, so im doing my project on achondroplasia. i have found all i need for it. although i cannot seem to find the history, like who discovered it and if the disorder is increasing or decreasing. if any of all know the history or something that could help me find something on it other than it was discovered on chromosome 4 in 1994, that would be great. thanks.
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Zully Lopez

10/13/2009

Hi Laureen, I know Dr Jesus Pintor in Spain he probably know everything you need, he is very friendly and english speaker. Look for him at Complutense University, he will answer, tell him that I give you his name, and tell him that I am working on the project we have, he will know. I bet he can answer you a lot of questions, fast and with a lot of humor, he is in charge of the research for the treatment for achondroplasia. Please go for it and help us to find a treatment for this kids
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Lindsey

11/11/2009

Zully, do you know how I could contact Dr Jesus Pintor?
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Posted by: zully Posted on: 7/15/2009
Do you know that achondroplasia is now on a very good research to find a pharmaceutical treatment that will improve growth specially in large bones?, this will make the bones growth normally. Since 2003 in Spain (Dr Jesus Pintor Just/Complutense University) and in Japan (Dr Ueda K / Okayama Japan), very good results so far, but still in a research. I had a Baby girl with achondroplasia, and nobody told me about this, no matter if is still on research but its a hope, I already ask little people of America but I dont have any answer, does somebody knows about this research and how they are going?
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Phil Pablo

10/12/2009

Dear Zully I have the same problem, my Baby girl born with achondroplasia,if you know some new treatment,please let me know.

ps: if you want change some impressions please write me.
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Posted by: s.abiram Posted on: 6/18/2009
My son s.abiram. We are from srilanka. My son is now nearly 4 years old, but his height is small. We show colombo general hospital there report is suspecting accondraplasia. His reports are annexture please inform me weather his growth is can improve or not.
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Posted by: mrs. walton Posted on: 3/29/2009
hi im a ihs student in ca and i cant find where achondroplasia was first discovered and when. i was hoping someone could help me
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Posted by: Phil Posted on: 11/22/2008
Hi, Would GHG help achondroplasia?
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Posted by: Andrew Posted on: 3/20/2008
Hi iam a High School Stundent conduction research and was wondering if i could have free information on the History and discovery of achondroplasia
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Posted by: Claire jones Posted on: 3/7/2008
I am doing some research on Achondroplasia i need some pictures and infromation about it.
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Posted by: Banana Posted on: 2/26/2008
I'm doing a project on achondroplasia and need to know how you find out if you have achondroplasia and what age do the symptoms start. Thanks!
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Posted by: nikki Posted on: 4/4/2007
i have to do a project on achondroplasia and i need to find the autosomal sex-liked and chromosomal abnormalities and how the disease is passed from one generation to the next...thanks
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marisa

2/9/2009

i hae to do this reseach on the dawftism will u help me
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