General Information About Achondroplasia
Disease Details and Frequently Asked Questions
It is a genetic syndrome caused by a mutation in the FGFR3 gene, which leads to early closure of the cartilage plates that allow long bones in the arms and legs to lengthen, resulting in short stature.
Characteristic features include an average trunk length combined with short arms and legs, a large head circumference (macrocephaly), a prominent forehead, increased curvature of the lower back, and short fingers.
It is an autosomal dominant genetic condition. However, in about 80% of cases, the parents are of average height, and the mutation occurs completely by chance (de novo) during sperm or egg formation.
No, the cognitive (mental) development and intelligence levels of individuals with achondroplasia are completely normal. They can lead independent, productive, and successful lives in society.
Ear infections and sleep apnea may occur in the early period. In advanced ages, there is a high risk of developing spinal canal narrowing (spinal stenosis) and bowing of the legs (O-legs).
There is no cure to correct the genetic mutation. Surgical interventions (such as limb lengthening surgeries) can be applied for orthopedic deformities. Multidisciplinary medical follow-up keeps the quality of life at a maximum.
Our health library contents are prepared for informational purposes only and with scientific data available at the time of recording. For all your questions, concerns, diagnosis, or treatment regarding your health, please consult your doctor or a healthcare institution.
