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Cited by 85dental development and anomaliesCleft Lip and Palate ResearchBone and Dental Protein Studies

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

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de La Dure‐Molla, Muriel, Fournier, Benjamin Philippe, Manzanares, Maria Cristina, Acevedo, Ana Carolina, Hennekam, Raoul C., Friedlander, Lisa, Boy‐Lefèvre, Marie‐Laure, Kerner, Stephane +17 more·2019·American Journal of Medical Genetics Part A
DOI 10.1002/ajmg.a.61316
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Abstract

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.

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  • There are currently more than 400 known GDDs, with the exact genetic changes known for ~79% of these diseases.

    “There are currently more than 400 known GDDs, with the exact genetic changes known for ~79% of these diseases (de La Dure-Molla et al. 2019).”

    From Dental Management of Genetic Dental Disorders: A Critical Review (2025) · cites this paper as de La Dure-Molla et al. 2019

    Section 5 reports a nosology of 408 genetically determined dental disorders and says a gene is identified in 322 of them (79%). That supports the count and percentage, but identifying a gene is not the same as knowing the exact genetic changes for each disease. (LLM, conf=0.88)

    Experimental — accuracy not yet measured

  • GDDs either occur as isolated dental diseases or can be part of a symptom complex in syndromic diseases.

    “Genetic dental disorders (GDDs) either occur as isolated dental diseases or can be part of a symptom complex in syndromic diseases (de La Dure-Molla et al. 2019).”

    From Dental Management of Genetic Dental Disorders: A Critical Review (2025) · cites this paper as de La Dure-Molla et al. 2019

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Authors
de La Dure‐Molla, M., Fournier, B. P., Manzanares, M. C., Acevedo, A. C., Hennekam, R. C., Friedlander, L., Boy‐Lefèvre, M., Kerner, S., Toupenay, S., Garrec, P., Vi‐Fane, B., Felizardo, R., Berteretche, M., Jordan, L., Ferré, F., Clauss, F., Jung, S., de Chalendar, M., Troester, S., Kawczynski, M., Chaloyard, J., International Group of Dental Nomenclature, Manière, M. C., Berdal, A., & Bloch‐Zupan, A.
Affiliations
  • Centre de Référence des Maladies rares Orales et Dentaires Hôpital Rothschild, AP‐HP, Faculté Odontologie Garancière, Université de Paris France
  • Hôpital Necker-Enfants Malades (FR)
  • 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
  • Universidade de Brasília (BR)
  • Amsterdam UMC Location University of Amsterdam (NL)
  • Inserm (FR)
  • Filière de santé Maladies Rares TETECOU: Malformations rares de la tête, du cou et des dents Hôpital Necker‐Enfants Malades Paris France
ORCID
Venue
American Journal of Medical Genetics Part A
Publisher
Wiley
Published
2019-08-29
Volume
179
Issue
10
Pages
1913-1981
ISSN
  • 1552-4825 (ISSN-L)
  • 1552-4833
DOI
10.1002/ajmg.a.61316
OpenAlex
W2970680088
Cited by
85
References
1
Citations by year
2026: 14 · 2025: 13 · 2024: 18 · 2023: 14 · 2022: 14 · 2021: 6 · 2020: 5 · 2019: 1
FWCI
2.13
Type
journal article
Language
en
Open access
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Locations
  • American Journal of Medical Genetics Part A (publishedVersion, cc-by-nc)
  • PubMed (publishedVersion)
  • Pure Amsterdam UMC (publishedVersion, other-oa)
  • Data Archiving and Networked Services (DANS) (submittedVersion)
  • HAL (submittedVersion, other-oa)
  • Dipòsit Digital de la Universitat de Barcelona (Universitat de Barcelona) (submittedVersion, cc-by-nc)
  • Lirias (submittedVersion, cc-by-nc)
Funders
  • European Regional Development Fund
  • Institut National de la Santé et de la Recherche Médicale (ANR‐10‐LABX‐0030‐INRT)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › dental development and anomalies
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Cleft Lip and Palate Research
  • Health Sciences › Medicine › Rheumatology › Bone and Dental Protein Studies
Keywords
dental anomalies, dental terminology, tooth agenesis, supernumerary teeth, syndromic disorders, causal genes
MeSH terms
Humans, International Cooperation, Mouth Mucosa, Terminology as Topic, Radiography, Panoramic, Tooth, Tooth Abnormalities, Tooth, Supernumerary, Genetic Predisposition to Disease, Anatomic Landmarks

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

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