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The information on this page is for informational purposes only and does not constitute medical advice. Consult your genetic counselor or specialist physician for treatment decisions.
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Achondroplasia
Achondroplasia
Prevalence:
1/25000
skeletal
Official
·
OMIM:100800
Official
·
ORPHA15
Most common skeletal dysplasia due to gain-of-function mutations in FGFR3 gene.
Associated Genes
FGFR3
Fibroblast Growth Factor Receptor 3
Chromosome 4
Autosomal Dominant