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Dental Anomalies: Genetics

  1. Pekka Nieminen

Published Online: 15 MAR 2013

DOI: 10.1002/9780470015902.a0006088.pub2



How to Cite

Nieminen, P. 2013. Dental Anomalies: Genetics. eLS. .

Author Information

  1. University of Helsinki, Helsinki, Finland

Publication History

  1. Published Online: 15 MAR 2013


Development of teeth is under strict genetic control, which ensures the formation and renewal of a certain number of teeth with specific shapes and positions in a reproducible timetable. Gene mutations can disturb normal dental development and affect tooth number, shape, eruption or formation of the hard tissues, enamel, dentin or cementum. These anomalies are often observed as isolated, that is, only dentition is affected, and especially failure to develop all teeth, tooth agenesis or hypodontia is extremely common. Different dental anomalies are also observed in numerous rare developmental syndromes because the genes and genetic networks that regulate tooth morphogenesis and differentiation are also active in the development of other organs and tissues. Tooth anomalies are especially associated with other ectodermal defects and orofacial clefts. Many examples indicate that teeth are often most sensitive to a reduced activity of a specific genetic pathway which is related to the complexity and self-organising features of dental development.

Key Concepts:

  • Teeth are specialised ectodermal organs.

  • Development of dentition is regulated by cell interactions by same signalling pathways that are active in other organs and requires modulation of signalling by antagonist factors.

  • Tooth agenesis (failure to develop all teeth) is one of the most common developmental anomalies.

  • Most cases of tooth agenesis and supernumerary teeth are caused by reduced rather than complete inactivation of gene activity.

  • Dental anomalies are often diagnostic indications of a heritable syndrome or systemic disease.

  • Dental hard tissues do not regenerate after an injury and their development involve unique mechanisms.

  • Studies into congenital enamel defects are revealing functions for novel proteins that are involved in cellular regulation in ameloblasts and other cells.


  • tooth agenesis;
  • hypodontia;
  • oligodontia;
  • ectodermal dysplasia;
  • cleft lip;
  • cleft palate;
  • enamel;
  • dentin;
  • tooth eruption