Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement.

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TitleDiagnosis and management of Cornelia de Lange syndrome: first international consensus statement.
Publication TypeJournal Article
Year of Publication2018
AuthorsKline, AD, Moss, JF, Selicorni, A, Bisgaard, A-M, Deardorff, MA, Gillett, PM, Ishman, SL, Kerr, LM, Levin, AV, Mulder, PA, Ramos, FJ, Wierzba, J, Ajmone, PFrancesca, Axtell, D, Blagowidow, N, Cereda, A, Costantino, A, Cormier-Daire, V, FitzPatrick, D, Grados, M, Groves, L, Guthrie, W, Huisman, S, Kaiser, FJ, Koekkoek, G, Levis, M, Mariani, M, McCleery, JP, Menke, LA, Metrena, A, O'Connor, J, Oliver, C, Pie, J, Piening, S, Potter, CJ, Quaglio, AL, Redeker, E, Richman, D, Rigamonti, C, Shi, A, Tümer, Z, Van Balkom, IDC, Hennekam, RC
JournalNat Rev Genet
Date Published2018 10
KeywordsConsensus, De Lange Syndrome, Genetic Association Studies, High-Throughput Nucleotide Sequencing, Humans, Mutation

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.

Alternate JournalNat. Rev. Genet.
PubMed ID29995837