
Characteristic clinical and radiographic findings can establish early suspicion for achondroplasia, while molecular and prenatal testing are helping clinicians confirm the diagnosis sooner.

Carlos Bacino, MD, is the medical director of the cytogenetics laboratory at Baylor Genetics.

Characteristic clinical and radiographic findings can establish early suspicion for achondroplasia, while molecular and prenatal testing are helping clinicians confirm the diagnosis sooner.

Achondroplasia is driven by overactive FGFR3 signaling that disrupts normal growth plate function. The panel explains how this molecular pathway affects endochondral bone growth and provides the foundation for understanding targeted treatment.

Bacino highlights the recently approved treatment’s safety data and emphasizes the likelihood of increased adherence due to longer intervals between administration.