Syndromology: An updated conceptual overview. III. Syndrome delineation

In Part III, the process of syndrome delineation is unfolded and its significance discussed. Unknown genesis syndrome categories include provisionally unique pattern syndromes and recurrent pattern syndromes. As more information becomes available, it is often possible to establish a Mendelian, chromosomal, teratogenic, or biochemical basis for the disorder in question. It has been estimated that newly recognized syndromes are being described at the rate of one or more per week. The process of syndrome delineation is not an academic exercise but actually fosters good patient care. As an unknown syndrome becomes delineated, its phenotypic spectrum, its natural history, and its recurrence risk become known, allowing for better patient care and family counseling.