DOI: 10.36347/sjmcr.2015.v03i08.031

Pages: 748-753

Achondroplasia is the most common non lethal variant of chondrodysplasia with birth prevalence of 1 in 15,000 to 40,000 births. These results from autosomal dominant inheritance although de novo mutations in the Fibroblast growth factor 3 (FGFR3) genes are responsible in majority of the cases. There exists a strong correlation between the site of mutation and the clinical phenotype. The phenotypic features of achondroplasia are often evident at birth, and the diagnosis is unparalleled. Proximal (rhizomelic) shortening of the extremities, trident hand, and midfacial hypoplasia with large head are distinct phenotypic features.