Information Update on Achondroplasia

Last month guidelines for the care of children with Achondroplasia were published in Pediatrics (1995;95:443-451). They represent three years of work by the American Academy of Pediatrics (AAP) Committee on Genetics. They are already out of date!! The field of molecular genetics is moving at an amazing pace. While the guidelines were being developed, the gene for Achondroplasia was mapped and sequenced and the specific defect identified. Because the mutation is very specific and very consistent in Achondroplasia [most diseases have many different mutations in the responsible gene(s)], it has been possible to develop an exquisitely precise diagnostic test very rapidly.