Descriptive epidemiology of Cornelia de Lange syndrome in Europe

Abstract

Cornelia de Lange syndrome (CdLS) is a multiple congenital anomaly/mental retardation syndrome consisting of characteristic dysmorphic features, microcephaly, hypertrichosis, upper limb defects, growth retardation, developmental delay, and a variety of associated malformations. We present a population-based epidemiological study of the classical form of CdLS. The data were extracted from the database of European Surveillance of Congenital Anomalies (EUROCAT) database, a European network of birth defect registries which follow a standard methodology. Based on 23 years of epidemiologic monitoring (8,558,346 births in the 1980-2002 period), we found the prevalence of the classical form of CdLS to be 1.24/100,000 births or 1:81,000 births and estimated the overall CdLS prevalence at 1.6-2.2/100,000. Live born children accounted for 91.5% (97/106) of cases, fetal deaths 2.8% (3/106), and terminations of pregnancy following prenatal diagnosis 5.7% (6/106). The most frequent associated congenital malformations were limb defects (73.1%), congenital heart defects (45.6%), central nervous system malformations (40.2%), and cleft palate (21.7%). In the last 11 years, as much as 68% of cases with major malformations were not detected by routine prenatal US. Live born infants with CdLS have a high first week survival (91.4%). All patients were sporadic. Maternal and paternal age did not seem to be risk factors for CdLS. Almost 70% of patients, born after the 37th week of gestation, weighed <or=2,500 g. Low birth weight correlated with a more severe phenotype. Severe limb anomalies were significantly more often present in males.

Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction

“…5 As with many studies of rare disorders, one of the main shortcomings of this work is the paucity of identified human mutations in this region. However, these mutations were identified from the collective efforts of our groups and others who have published on CdLS, representing 8 CdLS research groups and nearly 900 patients (Bhuiyan et 47 this represents an evaluated population of nearly 70 million individuals. Without coordinated global efforts, it is unlikely that higher saturation of NIPBL will be obtained.…”

Assessment and treatment of stereotypy in an individual with Cornelia de Lange syndrome and deafblindness

“…Cornelia de Lange syndrome is a congenital disorder characterized by physical abnormalities and dysmorphology, which has been associated with varying levels of intellectual disability (Barisic et al, 2008;Oliver, Arron, Sloneem, & Hall, 2008). Individuals with Cornelia de Lange syndrome often engage in repetitive and invariant behaviours that serve no apparent social function, which are generally referred to as stereotypy in the research literature (e.g., body rocking, hand flapping, mouthing, tapping; Oliver, Sloneem, Hall, & Arron, 2009;Moss, Oliver, Arron, Burbidge, & Berg, 2009).…”

Oral Manifestations in the Cornelia De Lange Syndrome: A Systematic Review of the Dental Literature.

“…The syndrome has also been called Brachmann de Lange, as was Dr. Brachmann in 1916 who described similar symptoms in one patient [4]. The estimated incidence varies from 1/10.000 to 1/100.000 live births [5]. Virtually all cases are sporadic but may occur following an autosomal dominant pattern [6].…”