Distribution of associated component abnormalities in cases with unclassified multiple (“syndromic”) anota/microtia

ObjectiveTo evaluate cases with unclassified multiple congenital abnormalities (CAs) including anotia/microtia (UMAM) in order to reveal the characteristic pattern of associated other component CAs and to attempt the so-called “registry diagnosis” on the pattern of associated CAs and to stimulate the establishment of an international registry of cases with UMAM.MethodThe large population-based dataset of the Hungarian Congenital Abnormality Registry, 1980–1996, but component CAs of UMAM were based on medical records.ResultsFinally 156 cases with UMAM were analyzed according to the number of 2–9 component CAs. There was a higher rate of bilateral anotia/microtia and anotia in UMAM cases parallel with the number of component CAs. Of 156 cases, 48 (30.8%) had registry diagnosis. The distribution of most component CAs is not random in UMAM cases, however, most CA-syndromes including anotia/microtia have not been delineated.ConclusionsThe evaluation of available dataset of cases with UMAM may help the identification of recognizable CA-syndromes and the delineation of new syndromes/associations with better prognosis and recurrence risk estimation, in addition to a better chance for their prevention.