Achondroplasia and periodontal disease

Achondroplasia is a non-lethal form of chondrodysplasia. It is a disturbance of endochondral bone formation which results in characteristic dwarfism. It is transmitted as an autosomal dominant trait, with complete penetrance. De novo mutations cause up to 90% of cases. The mutation rate is estimated to be 0.000014 per gamete per generation. It is a rare disorder with a prevalence of 1:10,000 to 1:50,000 births worldwide. A young female patient suffering from achondroplasia reported with oral manifestations showing features of periodontitis, hypoplasia of the mid-face, deep periodontal pockets, and mobility of teeth. This case report highlights this rare anomaly and its oral manifestations.