A large number of causes of enamel defects, both environmental and genetic, have been described. However, many of these are derived from case histories and studies of individual conditions. What is needed now is a systematic investigation of the problem. The first requirement in exploring the aetiology further is the standardization of both the clinical diagnosis and the descriptive terminology. This has been provided by the Fédération Dentaire Internationale Developmental Defects of Enamel Index. Comparing studies using standardized methods, including this index, has highlighted areas for closer investigation. The total prevalence of enamel defects in a population needs to be established as a baseline for studies on aetiology. Sixty-eight per cent of 1518 school children in London have enamel defects in the permanent dentition, with 10.5% having 10 or more teeth affected and 14.6% having hypoplasia, i.e. missing enamel. These findings are in contrast to the 37% with hypoplasia found in a group of third to fifth century Romano-Britons from Dorset, England, suggesting further consideration of possible environmental and genetic differences between the two populations. An overall long-term study of dental development in low birth weight children has shown significantly more (P < 0.001) enamel defects related to major health problems during the neonatal period. By using standardized, reproducible criteria in prevalence studies to gain an overview of the problem and then studying specific groups or conditions, it is possible to identify general and specific factors in the aetiology of enamel defects and investigate further the varying role of genetic and environmental effects.