| Institution: | 1. https://orcid.org/0000-0001-5583-7535;2. Department of Pediatric Dentistry, Bauer Hall CB#7450, School of Dentistry, University of North Carolina, Chapel Hill, North Carolina;3. Timothy Wright, Department of Pediatric Dentistry, Bauer Hall CB#7450, School of Dentistry, University of North Carolina, Chapel Hill, NC 27599‐7450.;4. National Foundation for Ectodermal Dysplasias, Fairview Heights, Illinois;5. Department of Pediatrics, University Hospital Erlangen, Erlangen, Germany;6. NFED Scientific Advisory Council, Fairview Heights, Illinois;7. Dermatology and Ophthalmology, University of Colorado Anschutz Medical Campus, Aurora, Colorado;8. Cancer & Genetics, School of Medicine, Cardiff University, Wales, United Kingdom;9. Department of Dermatology, Reference Center for Genodermatoses and Rare Skin Diseases (MAGEC), INSERM U1163, Descartes ‐ Sorbonne Paris Cité University, Imagine Institute, Necker‐Enfants Malades Universitary Hospital, Paris, France;10. Center for Inherited Cutaneous Diseases, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Foundation IRCCS Ca’ Granda, Ospedale Maggiore Policlinico, Milan, Italy;11. Department of Genetics, Federal University of Parana, Curitiba, Brazil;12. Positivo University, Curitiba, Brazil;13. National Oral Disability Center for Rare Disorders, The Institute for Postgraduate Dental Education, J?nk?ping, Sweden;14. NFED for Treatment & Research, Fairview Heights, Illinois;15. Department of Child Health, University of Missouri, Columbia, Missouri;16. University of Illinois at Chicago College of Dentistry, Chicago, Illinois;17. Departments of Medicine and Child Health, University of Missouri School of Medicine, Columbia, Missouri;18. Academic Affairs and Education, Health Sciences, The University of Utah, Salt Lake City, Utah;19. Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, Washington;20. Laboratory of Skin Biology, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD |
| Abstract: | An international advisory group met at the National Institutes of Health in Bethesda, Maryland in 2017, to discuss a new classification system for the ectodermal dysplasias (EDs) that would integrate both clinical and molecular information. We propose the following, a working definition of the EDs building on previous classification systems and incorporating current approaches to diagnosis: EDs are genetic conditions affecting the development and/or homeostasis of two or more ectodermal derivatives, including hair, teeth, nails, and certain glands. Genetic variations in genes known to be associated with EDs that affect only one derivative of the ectoderm (attenuated phenotype) will be grouped as non‐syndromic traits of the causative gene (e.g., non‐syndromic hypodontia or missing teeth associated with pathogenic variants of EDA “ectodysplasin”). Information for categorization and cataloging includes the phenotypic features, Online Mendelian Inheritance in Man number, mode of inheritance, genetic alteration, major developmental pathways involved (e.g., EDA, WNT “wingless‐type,” TP63 “tumor protein p63”) or the components of complex molecular structures (e.g., connexins, keratins, cadherins). |
