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 Tümer, Ingrid D C Van Balkom, Raoul C Hennekam

209 Citationer (Scopus)

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.

OriginalsprogEngelsk
TidsskriftNature Reviews. Genetics
Vol/bind19
Udgave nummer10
Sider (fra-til)649-666
Antal sider18
ISSN1471-0056
DOI
StatusUdgivet - okt. 2018

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