We are pleased to share the publication of the paper “Revised Orphanet Nomenclature and Classification for Spina Bifida and Other Spinal Dysraphisms (SBoD)” in the Orphanet Journal of Rare Diseases.
Led by Ferdinand Dhombres, Timothée de Saint‑Denis, Dominic Thompson, Giovanni Mosiello, and a multidisciplinary team of European experts—including ERN eUROGEN and ERN ITHACA network members—this landmark work delivers a comprehensive update to the Orphanet classification of spinal dysraphism.
Through a formal consensus process involving neurosurgeons, urologists, geneticists, fetal medicine specialists, rehabilitation experts, and patient representatives, the working group developed a clear and reproducible set of terms and definitions. This update addresses longstanding challenges posed by outdated terminology and inconsistent diagnostic criteria, ensuring the classification is clinically useful across various disciplines and settings.
Key outcomes include:
✔ A revised framework based on essential skin, bone, and spinal cord findings;
✔ 25 new ORPHAcodes and updates to 10 existing codes;
✔ A decision tree to guide clinical application;
✔ Incorporation of prenatal diagnosis and rare or newly described entities.
This achievement reflects the power of cross-ERN collaboration (ERN eUROGEN and ERN ITHACA) and provides clinicians, researchers, and patient communities with a shared language to enhance diagnosis, prognosis, care, and research in spinal dysraphism.
