Achondroplasia is the most common form of short stature skeletal dysplasia. It is caused by an overactive FGFR3 gene that sends a message to the growth plate through cell signaling to slow down growth. Eighty percent of people with achondroplasia are born to average stature parents.
Janet Legare, MD, professor, Divisions of Genetics and Metabolism and Developmental Pediatrics and Rehabilitation Medicine, is a leading expert in pediatric genetics and skeletal disorders. Legare sat down with DNA Today to discuss the nuances of achondroplasia.
When asked to share clinical pearls for pediatricians or physicians who have not worked with patients with achondroplasia before, Legare recommended reading credible sources like the American Academy of Pediatrics guidelines, using the proper growth charts, and utilizing or referring patients to skeletal dysplasia clinics if available in their area.
“I spend the majority of my time with new families evaluating the patient and giving a lot of educational information about achondroplasia as a whole,” Legare said. “I do think it’s important to talk about new treatments or clinical trials and the reason is, so that the parents get a full picture and they can use their own knowledge and desires to make the right decision for their child.”
The “Breaking Down Achondroplasia: A Pediatrician in Clinical Genetics Explains” episode aired on DNA Today on September 19, 2025. The episode is also available on YouTube.