Causes: Achondroplasia:
Growth plate cartilage in the long bones is converted to bone too early in development.
Although this condition can be inherited in an autosomal dominant manner, 80% of cases are due to new, sporadic mutations. Mutations involve the gene encoding fibroblast growth factor receptor 3 (FGFR3), situated on chromosome 4. Most commonly, a point mutation causes the substitution of arginine for glycine (G380R) in the transmembrane region of the receptor.
(Source: Genes and Disease by the National Center for Biotechnology)
As with all medical conditions, there may be many causal factors. Further relevant information on causes of Achondroplasia may be found in:
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