Abbreviation for fibroblast growth factor receptor 3. Mutations
in the FGFR3 gene are known to cause three different syndromes -- hypochondroplasia,
achondroplasia, and thanatophoric dysplasia. These syndromes represent variations
in severity. Hypochondroplasia is the mildest and thanatophoric dysplasia (also
called thanatophoric dwarfism) is the most severe. In fact, thanatophoric dysplasia
is a type of dwarfism in which death usually occurs in the first hours of life.
FGF3 is an example of how different syndromes can result from mutations in a single
gene.
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