ABSTRACT
The very term dysmorphology is disliked by some but has the advantage of clearly identifying the field as the study of disordered development, without specifying the causes or limiting the subject to genetic influences. While laboratory tests, in particular chromosome analysis, are often a vital part of this, the diagnostic skill of a clinical geneticist experienced in dysmorphology may be of even greater value in ensuring the appropriate management of many of these difficult problems. Although many aspects of the diagnostic approach to the dysmorphic child are similar to those already outlined more generally for genetic disorders, there are differences of emphasis. The accurate diagnosis of malformations is sometimes disparaged by clinicians as an exercise in classification that contributes little to the welfare of the affected child. The possibility of identifying the specific genes responsible for individual malformation syndromes has become one of the most important and rapidly evolving fields of medical genetics and has immediate practical consequences.
