Publication

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

Kline, A. D., Moss, J. F., 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., Tumer, Z., Van Balkom, I. D. C. & Hennekam, R. C. Oct-2018 In : Nature Reviews Genetics. 19, 10, p. 649-666 18 p.

Research output: Contribution to journalReview article

  • 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 Grados
  • Laura 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

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
StatePublished - 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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