Achondroplasia

The condition specific module was launched in February 2022 and is the work of the Achondroplasia Working Group.

Want to start using the module? Get access to the Core Registry and read the instructions (, 1 MB) on how to use the module.

After entering the patient in the Core Registry, the Achondroplasia module appears automatically and is ready to use.

The full data dictionary can be downloaded here.

If you have any questions or interest in joining the working group, please contact us on registries@lumc.nl.

The module collects information on

• Family history;
• Anthropometry;
• Clinical features (including the assessment of foramen magnum score and spinal stenosis);
• Medical and surgical treatment.

Do not forget for all bone conditions EQ-5D-5L and mobility should be assessed (either by clinician or patient with access) yearly. You will need to set those within the general bone dysplasia module.

Tools used in the module

• Brief Pain Inventory in adults and children
• Achondroplasia Foramen Magnum Score: screening infants for stenosis (, 843 KB)
• Achondroplasia Growth Charts for Girls (, 3 MB)
• Achondroplasia Growth Charts for Boys (, 3 MB)
• Achondroplasia Developmental Recording Form (, 281 KB)

Publications

• Meeting Report from 2nd ICCBH-ERN BOND Spinal Complications in Children and Adults with Achondroplasia Workshop, Dublin, Ireland, 2nd July 2022 (Cheung MS, & Mohnike K, 2022)

Please check out our study groups overview for current studies that include data from this module. If you are interested in working with data from this module, please fill out a Data Request.