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

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
Volume19
Issue10
Pagination649-666
Date Published2018 10
ISSN1471-0064
KeywordsConsensus, De Lange Syndrome, Genetic Association Studies, High-Throughput Nucleotide Sequencing, Humans, Mutation
Abstract

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.

DOI10.1038/s41576-018-0031-0
Alternate JournalNat. Rev. Genet.
PubMed ID29995837