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Achondroplasia
Home | All About Achondroplasia | Support | Age, Expected Outcome & Progression | Cause &Cure | Symptoms | Pictures | Sources | Famous Dwarfs | Interesting facts
Cause &Cure

Cause: Achondroplasia is caused by a mutation in a gene that helps develop and maintain the structure of bone and brain tissue. This is called the FGFR3 gene and is found on chromosome four. It is a autosomal dominant gene.

 

Treatment/ Cure: Limb-lengthening surgery is a surgery that some achondroplastics have used and many have been pleased with the results. There is also a hormone-growth treatment.  Even though the treatment make people with achondroplasia grow faster for the first year of treatment it does not make them grow taller.

gene & protein that is responsible for disease
ch11_1.jpg
fog.ccsf.cc.ca.us

this is a type of growth hormone
_38156566_growth300.jpg
http://news.bbc.co.uk/1/hi/health/2150953.stm

This is a pedigree for achondroplasia
ped-1.gif
http://bob.usuf2.usuhs.mil/biochem/problems/gencase/cases/node5.html

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