Genetic Syndromology –an Introduction to a Series of Papers

Overview

Syndromology belongs to diagnostic methods based on the analysis of phenotypic (clinical or anatomical –dysmorphics)features,which occur very often together and have a common etiology (e.g.teratogenic embryopathy,numerical and structural chromosomal aberrations or gene mutations).In the phenotype analysis important appearso-called signal features,which enable to narrow the range of possible disorders for the differential diagnosis of theassumptive diseases.

Key words:
syndromology,dysmorphology,signal features,etiology of syndromes.