Daniela Rogoff, MD, PhD, Vice President of Clinical Development at QED Therapeutics, a BridgeBio Company, gives an overview of achondroplasia.
As Dr. Rogoff explains, achondroplasia is a skeletal dysplasia characterized by the failure of normal conversion of cartilage into bone, most notably in longer bones, which results in disproportionate short stature. Achondroplasia is caused by a mutation in the FGFR3 gene, which causes the FGFR3 protein to be overly active. People with achondroplasia can experience serious health complications, including foramen magnum compression, spinal stenosis, sleep apnea, bowed legs, mid-face hypoplasia, permanent sway of the lower back, recurrent ear infections, and long term chronic pain.
To learn more about achondroplasia and other rare musculoskeletal disorders, go to checkrare.com/diseases/musculoskeletal