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Causes of Achondroplasia

Causes of Achondroplasia

Achondroplasia is a birth defect caused by inherited or spontaneous mutation of the fibroblast growth factor receptor-3 gene, FGFR3.

Inheritance of Achondroplasia

Autosomal dominant diseases are usually inherited from the one parent who already has the disease. Rare cases of sporadic...more »

Achondroplasia: Related Medical Conditions

To research the causes of Achondroplasia, consider researching the causes of these these diseases that may be similar, or associated with Achondroplasia:

Achondroplasia: Causes and Types

Causes of Broader Categories of Achondroplasia: Review the causal information about the various more general categories of medical conditions:

What causes Achondroplasia?

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)

Related information on causes of Achondroplasia:

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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