Review article
Electronic databases of human genetic disorders: the fundamentals of differential diagnosis in clinical genetics
Nina Pereza
; Department of biology and medical genetics, School of medicine, University of Rijeka, Rijeka, Croatia
Ljiljana Zergollern-Čupak
; University of Zagreb, Zagreb, Croatia
Saša Ostojić
; Department of biology and medical genetics, School of medicine, University of Rijeka, Rijeka, Croatia
Abstract
Congenital anomalies occur in 3-5 % of all newborn children and represent a significant part of prenatal and infant mortality and morbidity. Although patients with multiple congenital anomalies represent a diagnostic challenge for pediatricians and clinical geneticists, it is necessary to recognize specific combinations of clinical signs, simptoms and behaviour patterns which leads to the diagnosis of a genetic disorder. The constantly increasing number of genetic disorders (over 6.000 described) with an even larger number of specific combinations of clinical features has led to an attempt of systematization of all known genetic disorders into several genetic databases. The comprehensiveness and simple organization of electronic genetic databases makes them an exceptional educational media for the training of clinical genetics and an inevitable part of everyday work in clinical genetics where they are used in the evaluation of patients and establishment of proper differential diagnosis of malformation syndromes and genetic diseases in general. Clinical genetics is a combination of art and skills in visual recognition and comparison of features, and the diagnosis of a genetic disorder is always a demanding and sometimes a time-consuming process where genetic databases can be of significant help. However, although all genetic databases can be searched according to clinical features and their specific combinations which will provide a list of the most likely syndromes, the obtained list of disorders is only a first step in the diagnostic process and demands further investigation of medically relevant literature, as well as repeated examinations of the patient when specific features and additional analyses are sought.
Keywords
congenital anomalies; dysmorphology; genetic disorders; medical genetics; OMIM; Orphanet
Hrčak ID:
34683
URI
Publication date:
2.3.2009.
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