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

Kline, A.D., Moss, Joanna, Selicorni, A., Bisgaard, A.-M., Deardorff, M.A., Gillett, P.M., Ishman, S.L., Kerr, L.M., Levin, A.V., Mulder, P.A. , Ramos, F.J., Wierzba, J., Ajmone, P.F., Axtell, D., Blagowidow, N., Cereda, A., Costantino, A., Cormier-Daire, V., FitzPatrick, D., Grados, M., Groves, L., Guthrie, W., Huisman, S., Kaiser, F.J., Koekkoek, G., Levis, M., Mariani, M., McCleery, J.P., Menke, L.A., Metrena, A., O'Connor, J., Oliver, C., Pie, J., Piening, S., Potter, C.J., Quaglio, A.L., Redeker, E., Richman, D., Rigamonti, C., Shi, A., Tümer, Z., Van Balkom, I.D.C. and Hennekam, R.C. (2018) Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement Nature Reviews Genetics, 19 (10). pp. 649-666.

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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.

Item Type: Article
Divisions : Faculty of Health and Medical Sciences > School of Psychology
Authors :
Kline, A.D.
Selicorni, A.
Bisgaard, A.-M.
Deardorff, M.A.
Gillett, P.M.
Ishman, S.L.
Kerr, L.M.
Levin, A.V.
Mulder, P.A.
Ramos, F.J.
Wierzba, J.
Ajmone, P.F.
Axtell, D.
Blagowidow, N.
Cereda, A.
Costantino, A.
Cormier-Daire, V.
FitzPatrick, D.
Grados, M.
Groves, L.
Guthrie, W.
Huisman, S.
Kaiser, F.J.
Koekkoek, G.
Levis, M.
Mariani, M.
McCleery, J.P.
Menke, L.A.
Metrena, A.
O'Connor, J.
Oliver, C.
Pie, J.
Piening, S.
Potter, C.J.
Quaglio, A.L.
Redeker, E.
Richman, D.
Rigamonti, C.
Shi, A.
Tümer, Z.
Van Balkom, I.D.C.
Hennekam, R.C.
Date : October 2018
DOI : 10.1038/s41576-018-0031-0
Copyright Disclaimer : Copyright 2018 The Authors. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit
Uncontrolled Keywords : Clinical genetics; Disease genetics; Genetic counselling; Genetic testing; Medical genetics; Signs and symptoms
Additional Information : No funding was received from pharmaceutical companies. The authors gratefully acknowledge the participation of all the international families and individuals with Cornelia de Lange syndrome. The authors apologize to the many authors whose work they were unable to cite because of space limitations. This work was supported by the Spanish Ministry of Health – Fondo de Investigación Sanitaria (FIS) [# PI12/01318; PI15/0707], the Diputación General de Aragón (Grupo Consolidado B20), IIS Aragón, GCV02-CIBERER, the Germany Federal Ministry of Education and Research (BMBF) [CHROMATIN- Net] and the European Social Fund (Construyendo Europa desde Aragón) to F.J.R. and J.P.
Depositing User : Diane Maxfield
Date Deposited : 03 Mar 2020 16:11
Last Modified : 03 Mar 2020 16:11

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