FAQ - achondroplasia
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Is there a difference between achondroplasia and dwarfism?


Thanks. (any sources would be helpful)
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Achondroplasia is one of the causes of dwarfism -

http://en.wikipedia.org/wiki/Achondroplasia

There are a couple different types:

http://en.wikipedia.org/wiki/Dwarfism  (+ info)

When a normal couple has a child with Achondroplasia, how big is the baby at birth?


Also, how big are Achondroplasia babies born from mothers with Achondroplasia as opposed to normal babies born from mothers with Achondroplasia
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I would think that the children born to parents with the disorder would be of a normal (low range of same) birthweight.
It seems that the parents dont know (when they dont have it themselves) that the child has the disease for a few months!  (+ info)

What chromosomes is achondroplasia thought to affect?


I need a answer in 15mins please!
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The disorder is a result of an autosomal dominant mutation in the fibroblast growth factor receptor gene 3 (FGFR3), which causes an abnormality of cartilage formation. FGFR3 normally has a negative regulatory effect on bone growth. In achondroplasia, the mutated form of the receptor is constitutively active and this leads to severely shortened bones.

People with achondroplasia have one normal copy of the fibroblast growth factor receptor 3 gene and one mutant copy. Two copies of the mutant gene are invariably fatal before, or shortly after birth. Only one copy of the gene needs to be present for the disorder to occur. Therefore, a person with achondroplasia has a 50% chance of passing on the gene to their offspring, meaning that there will be a 50% chance that each child will have achondroplasia. Since two copies are fatal, if two people with achondroplasia have a child, there's a 25% chance of it dying shortly after birth, a 50% chance the child will have achondroplasia, and a 25% chance the child will have a normal phenotype. However, in 3 out of 4 cases, people with achondroplasia are born to parents who don't have the condition. This is the result of a new mutation.  (+ info)

What is achondroplasia and who discovered it ?


I need website and pictures please! :)
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Karen, it's the most common form of dwarfism, with shortened limbs and a normal-sized head and torso, with characteristic facial distortions. It's genetic.

I don't know that it was "discovered." It's pretty apparent.  (+ info)

I'd like to know more about Achondroplasia (a common type of Dwarfism). Is there a forum online?


I'd especially like to know more about the emotional aspects, as well as adjustments needed around the home.
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try www.webmd.com alot of answers are there. if that doesnt help go to your local hospital and ask where you may find info on it, and if there is support groups in your area for it. good luck  (+ info)

What is the treatment for Achondroplasia?


please give some details.
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Prescription drugs.

Coach  (+ info)

What limitations do you have when you have Achondroplasia(dwarfism)???


Only the ones you place on yourself!  (+ info)

how does achondroplasia affect everyday life?


such as do their parents have to dress them for an exmple
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They do things like everyone else except they may need adaptive equipment.  (+ info)

my son has achondroplasia. he is 2 months old. im asking for helpful hints?


one being what kind of stroller, i know not an umbrella. how do you hold him when walking around to give him the best support. what tests should i make sure he receives. he has been seen by the san diego childrens hospital his 1st week of life. he is healthy no major concerns as of yet. everything checked out. just want to know if i need to apply for anything or what to do.
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apply for social security disability for her if she has already been diagnosed. this will help with your bills.
please find a support group online or go to baby center.com to ask your questions. or find a really good nurse/practitioner who will be available to answer your questions . God bless you honey and your little one.  (+ info)

In achondroplasia, where is the mutation found?


FGFR3 gene

Diagnosis/testing. Achondroplasia can be diagnosed by characteristic clinical and radiographic findings in most affected individuals. In individuals who may be too young to diagnose with certainty or in individuals with atypical findings, molecular genetic testing can be used to detect a mutation in the FGFR3 gene. Such testing detects mutations in 99% of affected individuals and is available in clinical laboratories.  (+ info)

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