Achondroplasia Study

Call for Collaboration

Achondroplasia is a rare genetic disorder that primarily affects bone growth, leading to dwarfism. It is the most common form of dwarfism, occurring in approximately 1 in every 15,000 to 40,000 live births. This condition is caused by a mutation in the FGFR3 gene, which plays a crucial role in regulating the growth of bones. Individuals with achondroplasia inherit the mutated gene from one or both of their parents, but most cases result from spontaneous mutations.

Assessing pediatric bone age is of paramount importance for individuals with achondroplasia. Since the condition primarily affects bone growth, tracking bone age through X-rays allows healthcare providers to monitor the child's growth rate and predict their final adult height. This information is vital for making informed decisions regarding treatment options such as growth hormone therapy. By closely monitoring bone age, healthcare professionals can tailor interventions to optimize the individual's growth potential and overall well-being, helping them lead a healthy and fulfilling life despite the challenges posed by achondroplasia.

Deeplasia for achondroplasia

In our first study, we assessed the performance of Deeplasia for measuring the bone age of children with achondroplasia (and seven other skeletal disorders). We found that Deeplasia's measurements are in very good agreement with the average of two expert clinicians with decades of experience in pediatric bone age assessment.

However, that study was limited to only 25 cases with achondroplasia and mainly from one hospital in Germany. In our next study, we aim to perform a large-scale extensive validation of Deeplasia for bone age assessment of children with achondroplasia.

We invite all the interested clinicians and researchers to join this study.

Coordinating scientists:

Dr. rer. nat. Behnam Javanmardi University Hospital Bonn, Germany Send E-mail
Prof. Dr. med. Klaus Mohnike University Hospital Magdeburg, Germany Send E-mail