Official websites use. Share sensitive information only on official, secure websites. Cornelia de Lange syndrome CdLS is an archetypical genetic syndrome that is characterized by intellectual disability, well-defined facial features, upper limb anomalies and atypical growth, among numerous other signs and symptoms.
It is caused by variants in any one of seven genes, all of which have a structural or regulatory function in the cohesin complex. Although recent advances in next-generation sequencing have improved molecular diagnostics, marked heterogeneity exists in clinical and molecular diagnostic approaches and care practices worldwide. Here, we outline a series of recommendations that document the consensus of a group of international experts on clinical diagnostic criteria, both for classic CdLS and non-classic CdLS phenotypes, molecular investigations, long-term management and care planning.
Subject terms: Medical genetics, Clinical genetics, Disease genetics, Genetic counselling, Genetic testing, Signs and symptoms. Cornelia de Lange syndrome is a genetic disorder affecting multiple organ systems that exhibits great phenotypic heterogeneity. This Consensus Statement summarizes recommendations for the diagnosis and management of patients with Cornelia de Lange syndrome.
Cornelia de Lange syndrome CdLS Online Mendelian Inheritance in Man OMIM entries , , , and is a multisystem disorder with physical, cognitive and behavioural characteristics that is named after the Dutch paediatrician Cornelia de Lange, who first described the developmental disorder in two infants in ref. The prevalence is estimated to be between 1 in 10, and 1 in 30, live births 2. Classic or typical CdLS is easily recognized from birth by experienced paediatricians and clinical geneticists owing to a distinctive craniofacial appearance and growth pattern, as well as limb malformations Fig.
However, not all individuals with CdLS exhibit the classic phenotype , and presentation of the disorder can vary widely, from mild to severe and with different degrees of facial and limb involvement.
