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Background <p>The Spina Bifida and other Dysraphisms working group (SBoD WG) is an interdisciplinary group, comprising experts on spinal dysraphism from 11 European countries. In 2022, the SBoD WG was tasked by 2 European Rare Disease Networks (ERN ITHACA and ERN eUROGEN) to revise the Orphanet classification of spinal dysraphism. Over the past two decades numerous subcategories of spinal dysraphism have been described in the medical literature resulting in a proliferation of terms, numerous synonyms and variously applied definitions. In the light of this, a revision of all terms and definitions was conducted by a Delphi approach in 3 steps by neurosurgeons (fetal/paediatric/adult), urologists (paediatric/adult), rehabilitation medicine specialists, fetal medicine and perinatal imaging specialists, geneticists, pathologists, nephrologists and patient representatives, all members of the International Federation for Spina Bifida and Hydrocephalus (IFSBH).</p> Results <p>In the first instance, 39 experts reviewed and refined the terminology that could be used to describe the anatomical characteristics of all forms of SBoD. At the second stage, 24 experts established terms and unambiguous definitions for 16 skin findings, 7 bone findings and 33 spinal cord findings that were considered essential features capable of describing all forms of spinal dysraphism. In the third stage, 29 experts validated 24 spinal dysraphic anomalies using these pre-agreed findings. All terms and definitions were validated by vote with a threshold of 80% approval (abstention was permitted). No terms with disagreement were retained in the subsequent classification.</p> <p>The revised SBoD classification was transferred to the Orphanet nomenclature (<Emphasis Type="Underline">ORPHA:823</Emphasis>). 16 existing ORPHAcodes were deemed obsolete, 10 ORPHAcodes were updated (terms and/or textual definitions) and 25 new ORPHAcodes were created. The SBoD working group also developed a ‘decision tree’ for new users, to assist them in the practical aspects of applying the revised classification and designating appropriate ORPHAcodes.</p> Conclusions <p>An update of the Orphanet Classification of spinal dysraphism was conducted by a European interdisciplinary group of experts encompassing all aspects of healthcare for patients with these disorders. This new classification, based on essential skin, bone and spinal cord findings offers a more logical and reproducible means to categorise SBoD. It is hoped that this will permit more precise disease delineation, consistent diagnostic accuracy and better prognostication.</p>

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Revised Orphanet nomenclature and classification for spina bifida and other spinal dysraphisms (SBoD)

  • 期刊论文

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  • 发表日期：

    2025年7月8日

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  • Ferdinand Dhombres,
  • Timothée de Saint-Denis,
  • Dominic Thompson,
  • Julie Tahraoui-Bories,
  • Caterina Lucano,
  • Ana Rath,
  • Giovanni Mosiello,
  • Jean-Marie Jouannic,
  • Iris Arsenakis,
  • Maria Paola Bonasoni,
  • Charlène Brochard,
  • Diletta Bruno,
  • Leonardo Caforio,
  • Valeria Capra,
  • Elena Carreras,
  • Matei Claudiu,
  • Darach Crimmins,
  • Sandrine Denoual,
  • Christele Dubourg,
  • Valérie Dupé,
  • Giacomo Esposito,
  • Isabella Fabietti,
  • Marie Faoucher,
  • Wout Feitz,
  • Benoit Fourcroy,
  • Romy Gander,
  • Tamara Geppert,
  • Carlos Giné,
  • Mathilde Gouesse,
  • Lucie Guilbaud,
  • Jacques Kerdraon,
  • Mark Koen,
  • Kolja Kvist,
  • Jane Leonard,
  • Manuel Lopez,
  • Nerea Maiz Elizaran,
  • Rafik Mansouri,
  • Andréa Manunta,
  • Michal Maternik,
  • Luca Mazzone,
  • Mar Melendez,
  • Dario Guido Minoli,
  • Giovanni Montini,
  • Tobias Nientiedt,
  • Sylvie Odent,
  • Matthieu Peycelon,
  • Benoit Peyronnet,
  • Carlota Rodo Rodriguez,
  • Sylvia Roozen,
  • Gloria Fatou Royo Gomes,
  • Roumaisah Saidi,
  • Martin Salö,
  • Emmanuelle Samson,
  • Ammi Sundqvist,
  • Ellen Vandamme,
  • Alain Verloes,
  • Eleonore Blondiaux,
  • Elena Carreras,
  • Enrico Castelli,
  • Gessica Dellabella,
  • Jan Deprest,
  • Roland Devilieger,
  • Giacomo Esposito,
  • Lucie Guilbaud,
  • Nerea Maiz Elizaran,
  • Barbara Daniela Iacobelli,
  • Carloefisio Marrass,
  • Luca Massimi,
  • Luca Mazzone,
  • Nicole Ochsenbein,
  • Paolo Palma,
  • Agnieszka Pastuszka,
  • Claudia Rendeli,
  • Dominic Thompson,
  • Kate Abrahmson,
  • Petra Aden,
  • Papatya Alkan,
  • Giulia Blasetti,
  • Elena Carreras,
  • Gessica Dellabella,
  • Michaela Dellenmark Bloom,
  • Jan Deprest,
  • Giacomo Esposito,
  • Benoit Fourcroy,
  • Carlos Giné,
  • Lucie Guilbaud,
  • Mirthe Klein Haneveld,
  • Manuel Lopez,
  • Nerea Maiz Elizaran,
  • Mar Meléndez,
  • Ueli Moehrlen,
  • Rien Nijman,
  • Agnieszka Pastuszka,
  • Christian Radmayr,
  • Carlota Rodo Rodriguez,
  • Sylvia Roozen,
  • Gloria Royo,
  • Federico Scorletti,
  • Ammi Sundqvist-Andersson,
  • Dominic Thompson,
  • Élida Vazquez,
  • Alain Verloes,
  • Anne Hugon,
  • Michelle Battye

摘要

Background

The Spina Bifida and other Dysraphisms working group (SBoD WG) is an interdisciplinary group, comprising experts on spinal dysraphism from 11 European countries. In 2022, the SBoD WG was tasked by 2 European Rare Disease Networks (ERN ITHACA and ERN eUROGEN) to revise the Orphanet classification of spinal dysraphism. Over the past two decades numerous subcategories of spinal dysraphism have been described in the medical literature resulting in a proliferation of terms, numerous synonyms and variously applied definitions. In the light of this, a revision of all terms and definitions was conducted by a Delphi approach in 3 steps by neurosurgeons (fetal/paediatric/adult), urologists (paediatric/adult), rehabilitation medicine specialists, fetal medicine and perinatal imaging specialists, geneticists, pathologists, nephrologists and patient representatives, all members of the International Federation for Spina Bifida and Hydrocephalus (IFSBH).

Results

In the first instance, 39 experts reviewed and refined the terminology that could be used to describe the anatomical characteristics of all forms of SBoD. At the second stage, 24 experts established terms and unambiguous definitions for 16 skin findings, 7 bone findings and 33 spinal cord findings that were considered essential features capable of describing all forms of spinal dysraphism. In the third stage, 29 experts validated 24 spinal dysraphic anomalies using these pre-agreed findings. All terms and definitions were validated by vote with a threshold of 80% approval (abstention was permitted). No terms with disagreement were retained in the subsequent classification.

The revised SBoD classification was transferred to the Orphanet nomenclature (ORPHA:823). 16 existing ORPHAcodes were deemed obsolete, 10 ORPHAcodes were updated (terms and/or textual definitions) and 25 new ORPHAcodes were created. The SBoD working group also developed a ‘decision tree’ for new users, to assist them in the practical aspects of applying the revised classification and designating appropriate ORPHAcodes.

Conclusions

An update of the Orphanet Classification of spinal dysraphism was conducted by a European interdisciplinary group of experts encompassing all aspects of healthcare for patients with these disorders. This new classification, based on essential skin, bone and spinal cord findings offers a more logical and reproducible means to categorise SBoD. It is hoped that this will permit more precise disease delineation, consistent diagnostic accuracy and better prognostication.