Achondraplasia Peer Review Journals

Achondraplasia Peer Review Journals

Achondroplasia is one of the most common and recognized short-limbed skeletal dysplasias, with a prevalence of 1 in 26,000 to 28,000 live births. Although achondroplasia is inherited in an autosomal dominant manner, 80% of affected children have a de novo mutation. The FGFR3 gene is the only gene associated with achondroplasia. Two mutations in this gene account for 99% of cases; both result in an amino acid change (glycine to arginine), which results in continuous activation of the FGFR3 protein. Having a constantly active FGFR3 protein leads to the inhibition of chondrocyte proliferation, which, in turn, inhibits bone growth. The average adult height for patients with achondroplasia is 131 cm for a man and 124 cm for a woman


Last Updated on: Nov 27, 2024

Global Scientific Words in Medical Sciences