In most genetic and birth defects centers, a definitive syndrome diagnosis is frequently not made. This situation is understandable because the origin may be a biochemical or chromosomal abnormality that is still unknown or a dysmorphologic syndrome that has not yet been identified. Also, because of the many advances being made in syndromology, the number of newly discovered syndromes exceeds the recall abilities of even the most astute dysmorphologists and syndromologists.1,2 As we identify more syndromes (and this is happening at a rapid pace with gene identification), it is to be hoped that the number of patients for whom no diagnosis of their condition can be given will decrease steadily.
However, until such time, clinicians will continue to seek help in making syndrome diagnoses. Some of the presently available diagnostic aids include diagnostic computer databases, journals that present undiagnosed syndromes, and "curbstone" consultations at genetic and birth defects meetings.
Feingold M, Frias J, Lin AE, Schaefer GB, Horwitz M. Telediagnostic Conferencing. Am J Dis Child. 1993;147(11):1196. doi:10.1001/archpedi.1993.02160350070010
Coronavirus Resource Center
Customize your JAMA Network experience by selecting one or more topics from the list below.
Create a personal account or sign in to: