engleski

Descriptive epidemiology of Cornelia de Lange syndrome

CdLS is a multiple congenital anomaly/metal retardation syndrome consisting of characteristic dysmorphic features, microcephaly, hypertrichosis, upper limb defects, growth retardation, developmental delay and a variety of associated major malformations. We present results of the population-based epidemiological study of the classical form of Cornelia de Lange Syndrome (CdLS). The data were provided by 33 registries from 16 European countries. Registries participate in the large European network of birth defect registries – EUROCAT, using the same epidemiological methodologies. 106 cases of CdLS have been identified in the total of 8 604 049 births, which corresponds to a prevalence of 1.23/100000 births. There were 96 live births, 3 still births, and 6 terminations of pregnancy. Prenatal diagnosis by ultrasound examination accounts for 23.5 % of all diagnosed cases. Live born infants with CdLS have a high first week survival rate (81%). The most frequent major congenital malformations associated with CdLS are limb defects (73.1%), congenital heart defects (45.6%), central nervous system malformations (49.2%) and cleft palate (21.7%). In the majority of cases the karyotype is normal. Identified abnormal karyotypes (46, XYdel83)(q12q21), inv(5)(p13q13) and 46, XX t(X ; 22)(p11 ; qter)) presumably disrupt genes identified to be responsible for CdLS. Maternal age and paternal age do not seem to be the risk factors for CdLS. Almost 80% of the cases born after the 37th week of gestation weight less than 2500 g ; low birth weight correlates with a more severe phenotype, including severe limb anomalies. We found no evidence of exposure to consistent teratogenes.

Cornelia de Lange Syndrome; descriptive epidemiology; prevalence; associated anomalies; prenatal diagnosis; karyotype; risk factors

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