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Achondroplasia

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Achondroplasia

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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 (14)


Posted by: tanay Posted on: 12/29/2009 I know a very good achondroplasia service in Lucknow, India,. It is headed by Dr. Vipul Shah. I was recently in his clinic and witnessed an achondroplasic child being lengthened in both the legs by amazingly 10 cm each, and the child was happy, she wasnt crying one bit. He also liasons with the genetics department of SGPGI and does research for which he has been awarded the young research scientist award by the govt, and is amazing. In Delhi he is at Maharaja Agrasen Hospital, Ashok Vihar, where my son who suffers from cerebral palsy is, and he is really the best. Reply \| Forward zully 1/23/2010 Thanks very much for share this info. We will pray for your son, I hope everything will go find with him. We are from Mexico Reply \| Forward
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... Reply \| Forward
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. Reply \| Forward 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 Reply \| Forward Lindsey 11/11/2009 Zully, do you know how I could contact Dr Jesus Pintor? Reply \| Forward
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? Reply \| Forward 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. Reply \| Forward Zully M Lopez 1/23/2010 Hi Phil, sorry did not see the message until now. How old is your baby?. For this moment I did not contact yet the doctor in Spain, I will write to him today, to see whats new, I know that everything is running very good, but not as far as we wish.... but still a hope. My baby already walks, everything just like a normal kid, she walks at 13 months, and already says some words like mom, dad, etc. So For me is kind of normal, just her height.... we are happy know, much better, some time I am sad, but no much, most of the time, I am doing good, what about you?, do you have other kids?. Sorry if i have mistakes, I am from Mexico, and my English sometimes is not too good. :] Reply \| Forward Zully M Lopez 1/23/2010 Hi Phil, sure I will let you know, I will contact the doctor in Spain, I know everything is runnig good, but not as far as we want... my baby is now 14 months and she walks perfect and run for all the house, everything good, and no complications, thand God!, Only her height. What about your baby, how old is her? Reply \| Forward emily 12/14/2009 Hello Zully, I would also be intersted in news about a medical treatment [there is research on it in Portland as well], we are from Europe and Emily is 3 and a half now with achondroplasia. She will undergo her first limb lengthening next February (but it would be much better with medical treatment!!) she has got so much complications yet and she can`t walk alone by now , can`t speak like her friends.... it`not so easy for her, for us and for her sisters. IÂ´d wish any hope for her future. Best wishes Reply \| Forward zully Maribel 1/23/2010 Hi Emily, Sorry for my delay answer, did not see your message until today. I didnt know that the limb lengthening can be done at this age [3.5] I read about is beteween 7-12 years, is a new technique??, I will like to know and please I wish you that everything will run ok on the operation, We will pray for Emily, I know she will be just find, please let me know how is she doing. I will let you know everything about the treatment and all the researches, but still on investigation, nothing is aproved yet, And we need the treatment as fast as is possible... and all the research in the University Complutense of Madrid (Spain) is pay for the association of parents with childs with achondroplasia, is just private with funds... Emily for all is very hard to face this kind of situations, but we have to try and never give up... If is hard for us, imagine for her... May I ask why she can not walk, it is for the limb lengthening, or what is happening with her?, ...Keep in touch and SMILE!!!!, Reply \| Forward
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. Reply \| Forward
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 Reply \| Forward
Posted by: Phil Posted on: 11/22/2008 Hi, Would GHG help achondroplasia? Reply \| Forward
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 Reply \| Forward
Posted by: Claire jones Posted on: 3/7/2008 I am doing some research on Achondroplasia i need some pictures and infromation about it. Reply \| Forward
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! Reply \| Forward

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