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Achondroplasia (Dwarfism)
Achondroplasia is the most common form of dwarfism, which occurs in about 1 of every 25,000 births (1). An individual with achondroplasia is very short in stature, averaging around 3 feet 8 inches, with very short stumpy limbs. Achondroplasia dwarfs also have a disproportionately large head with a bossing forehead. They have hyperextendibility in most of their joints, except their elbows, which cannot fully extend. Due to extensive fibular growth, the legs of achondroplasia dwarfs are very bowed. The hands of achodroplasia dwarfs are very broad with short metacarpals, referred to as trident hand (2).
The gene responsible for achndroplasia is Fibroblast Growth Factor Receptor 3, or FGFR3, and is located on at 4p16.3 (2). This is a coding gene with a linear mRNA transcript, which is 4,093 base pairs in length. The mutation coding for the achondroplasia allele is a point mutation at the 1,138th base pair of the gene (2). In most cases the guanine......

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