Pediatr. praxi. 2008;9(5):305-308

MINOR ANOMALIES ARE CLUES TOWARD THE RECOGNITION OF GENETIC SYNDROMES

prof. MUDr. Eva Seemanová DrSc

Oddělení klinické genetiky ústavu biologie a lékařské genetiky 2. LF UK Praha

Minor anomalies of phenotype are clue to more serious problems and toward the recognition of genetic syndromes. These unusual morphologic features represent no serious medical consequence, they are detectable by somatoscopic examination and are indicators of altered morphogenesis and valuable features in diagnosis of specific pattern of disorders. Occurrence of single minor anomalies in population is common (around 10–15 %) and therefore is necessary to look in other family members. Single anomalies show no increased frequency of major malformations, but in about 1 % children are found 2 and more minor anomalies and the frequency of major malformations in this group is 90 % as sign a more serious problem in morphogenesis. These minor external anomalies are most common in areas of face, auricles, hand, feet, genital. For pediatricians can be important features of genetic disorder which etiology should be eluciated in cooperation with geneticist for evaluation of clinical prognosis of patients as well as genetic prognosis of their families.

Keywords: Key words: genetic disorders, dysmorphology, syndromology, minor external anomalies.

Published: November 1, 2008  Show citation