Abstract
Cornelia de Lange syndrome (CdLS) is a genetic disease that exemplifies the evolution of knowledge in the field of rare genetic disorders. Originally described as a unique pattern of major and minor anomalies, over time this syndrome has been shown to be characterized by a significant variability of clinical expression. By increasing the number of patients described, knowledge of the natural history of the condition has been enriched with the demonstration of the relative frequency of various potential comorbidities. Since 2006, the discovery of CdLS’s molecular basis has shown an equally vast genetic heterogeneity linked to the presence of variants in genes encoding for the cohesin complex pathway. The most recent clinical-genetic data led to the classification of the “original syndrome” into a “clinical spectrum” that foresees the presence of classic patients, of non-classic forms, and of conditions that show a modest phenotypic overlapping with the original disease. Finally, the knowledge of the molecular basis of the disease has allowed the development of basic research projects that could lay the foundations for the development of possible innovative pharmacological treatments.
Highlights
Cornelia de Lange syndrome (CdLS) (OMIM #122470, #300590, #610759, #300882 and #614701) is a multisystem genetic disorder characterized by prenatal and postnatal growth retardation, microcephaly, distinctive facial feature, psychomotor retardation/intellectual disability, hirsutism, small hands and feet or limb malformations
Parenti et al recently described a patient with a severe phenotype and typical CdLS facial dysmorphism carrying a pathogenic variant in MAU2, interactor of nipped-B like protein (NIPBL)
Later (2013), Huisman et al described a high prevalence of somatic mosaicism (23%) in their cohort of CdLS patients, suggesting that somatic mosaicism could be more frequent than expected in CdLS
Summary
Cornelia de Lange syndrome (CdLS) (OMIM #122470, #300590, #610759, #300882 and #614701) is a multisystem genetic disorder characterized by prenatal and postnatal growth retardation, microcephaly, distinctive facial feature, psychomotor retardation/intellectual disability, hirsutism, small hands and feet or limb malformations. Two letters to the editor by and Meinecke and Hayek (1990) [3] reported that a similar clinical association had previously been described by Brachmann and Vrolik in 1916 and 1849, respectively [4,5]. For this reason, the syndrome has been named Brachmann de Lange. Further analysis of a more heterogeneous group of patients will provide even more accurate data on the effectiveness of this system
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