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

Antonie D. Kline, Joanna F. Moss, Angelo Selicorni, Anne-Marie Bisgaard, Matthew A. Deardorff, Peter M. Gillett, Stacey L. Ishman, Lynne M. Kerr, Alex V. Levin, Paul A. Mulder, Feliciano J. Ramos, Jolanta Wierzba, Paola Francesca Ajmone, David Axtell, Natalie Blagowidow, Anna Cereda, Antonella Costantino, Valerie Cormier-Daire, David FitzPatrick, Marco GradosLaura Groves, Whitney Guthrie, Sylvia Huisman, Frank J. Kaiser, Gerritjan Koekkoek, Mary Levis, Milena Mariani, Joseph P. McCleery, Leonie A. Menke, Amy Metrena, Julia O'Connor, Chris Oliver, Juan Pie, Sigrid Piening, Carol J. Potter, Ana L. Quaglio, Egbert Redeker, David Richman, Claudia Rigamonti, Angell Shi, Zeynep Tumer, Ingrid D. C. Van Balkom, Raoul C. Hennekam*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

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.

Original languageEnglish
Pages (from-to)649-666
Number of pages18
JournalNature Reviews Genetics
Volume19
Issue number10
Early online date11 Jul 2018
DOIs
Publication statusPublished - Oct 2018

Keywords

  • BRACHMANN-DELANGE-SYNDROME
  • AUTISM SPECTRUM DISORDER
  • OF-THE-LITERATURE
  • GENOTYPE-PHENOTYPE CORRELATIONS
  • SELF-INJURIOUS-BEHAVIOR
  • DU-CHAT-SYNDROMES
  • CONGENITAL DIAPHRAGMATIC-HERNIA
  • AUTOSOMAL-DOMINANT INHERITANCE
  • RUBINSTEIN-TAYBI SYNDROMES
  • TO-MALE TRANSMISSION

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