FGFR3
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