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Am J Med Genet A. 2019 Oct;179(10):1913-1981. doi: 10.1002/ajmg.a.61316. Epub 2019 Aug 29.

Elements of morphology: Standard terminology for the teeth and classifying genetic dental disorders.

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Centre de Référence des Maladies rares Orales et Dentaires, Hôpital Rothschild, AP-HP, Faculté Odontologie Garancière, Université de Paris, France.
INSERM UMR_S1163 Bases moléculaires et physiopathologiques des ostéochondrodysplasies, Institut Imagine, Necker, Paris, France.
Filière de santé Maladies Rares TETECOU: Malformations rares de la tête, du cou et des dents, Hôpital Necker-Enfants Malades, Paris, France.
Laboratoire de Physiopathologie Orale Moléculaire INSERM UMR S1138, Centre de Recherche des Cordeliers, Universités Paris-Diderot et Paris-Descartes, Paris, France.
Unitat d'Anatomia i Embriologia Humana, Departament de Patologia i Terapèutica Experimental, Facultat de Medicina i Ciències de la Salut, Universitat de Barcelona, Barcelona, Spain.
ral Care Center for Inherited Diseases, University Hospital of Brasilia, University of Brasilia, Brasilia, Brazil.
Department of Dentistry, Health Sciences School, University of Brasilia, Brasilia, Brazil.
Department of Pediatrics, Amsterdam UMC location AMC, University of Amsterdam, Amsterdam, The Netherlands.
INSERM UMR_S1123, ECEVE, Epidémiologie clinique, évaluation économique des populations vulnérables, Paris, France.
Faculté de Chirurgie Dentaire, Université de Strasbourg, Strasbourg, France.
Pôle de Médecine et Chirurgie Bucco-Dentaires, Centre de Référence des Maladies Rares Orales et Dentaires, CRMR O-Rares, ERN CRANIO, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
Institut de Génétique et de Biologie Moléculaire and Cellulaire, Centre Européen de Recherche en Biologie et en Médecine, Université de Strasbourg, CNRS UMR7104, INSERM U1258, Illkirch, France.
Institut d'Etudes Avancées, Université de Strasbourg, USIAS, Strasbourg, France.


Dental anomalies occur frequently in a number of genetic disorders and act as major signs in diagnosing these disorders. We present definitions of the most common dental signs and propose a classification usable as a diagnostic tool by dentists, clinical geneticists, and other health care providers. The definitions are part of the series Elements of Morphology and have been established after careful discussions within an international group of experienced dentists and geneticists. The classification system was elaborated in the French collaborative network "TÊTECOU" and the affiliated O-Rares reference/competence centers. The classification includes isolated and syndromic disorders with oral and dental anomalies, to which causative genes and main extraoral signs and symptoms are added. A systematic literature analysis yielded 408 entities of which a causal gene has been identified in 79%. We classified dental disorders in eight groups: dental agenesis, supernumerary teeth, dental size and/or shape, enamel, dentin, dental eruption, periodontal and gingival, and tumor-like anomalies. We aim the classification to act as a shared reference for clinical and epidemiological studies. We welcome critical evaluations of the definitions and classification and will regularly update the classification for newly recognized conditions.


Anatomy and Histology; Classification; Craniofacial abnormalities; Rare diseases; Terminology; Tooth abnormalities


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