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 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 Tümer; Ingrid D C Van Balkom; Raoul C Hennekam

doi:10.1038/s41576-018-0031-0

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

Department of Clinical Medicine

72 Citations (Scopus)

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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 language	English
Journal	Nature Reviews. Genetics
Volume	19
Pages (from-to)	649-666
ISSN	1471-0056
DOIs	https://doi.org/10.1038/s41576-018-0031-0
Publication status	Published - 1 Oct 2018

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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., ... Hennekam, R. C. (2018). Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement. Nature Reviews. Genetics, 19, 649-666. https://doi.org/10.1038/s41576-018-0031-0

Kline, 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, PF, 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 2018, 'Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement', Nature Reviews. Genetics, vol. 19, pp. 649-666. https://doi.org/10.1038/s41576-018-0031-0

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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.",

author = "Kline, {Antonie D} and Moss, {Joanna F} and Angelo Selicorni and Anne-Marie Bisgaard and Deardorff, {Matthew A} and Gillett, {Peter M} and Ishman, {Stacey L} and Kerr, {Lynne M} and Levin, {Alex V} and Mulder, {Paul A} and Ramos, {Feliciano J} and Jolanta Wierzba and Ajmone, {Paola Francesca} and David Axtell and Natalie Blagowidow and Anna Cereda and Antonella Costantino and Valerie Cormier-Daire and David FitzPatrick and Marco Grados and Laura Groves and Whitney Guthrie and Sylvia Huisman and Kaiser, {Frank J} and Gerritjan Koekkoek and Mary Levis and Milena Mariani and McCleery, {Joseph P} and Menke, {Leonie A} and Amy Metrena and Julia O'Connor and Chris Oliver and Juan Pie and Sigrid Piening and Potter, {Carol J} and Quaglio, {Ana L} and Egbert Redeker and David Richman and Claudia Rigamonti and Angell Shi and Zeynep T{\"u}mer and {Van Balkom}, {Ingrid D C} and Hennekam, {Raoul C}",

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AU - Kline, Antonie D

AU - Moss, Joanna F

AU - Selicorni, Angelo

AU - Bisgaard, Anne-Marie

AU - Deardorff, Matthew A

AU - Gillett, Peter M

AU - Ishman, Stacey L

AU - Kerr, Lynne M

AU - Levin, Alex V

AU - Mulder, Paul A

AU - Ramos, Feliciano J

AU - Wierzba, Jolanta

AU - Ajmone, Paola Francesca

AU - Axtell, David

AU - Blagowidow, Natalie

AU - Cereda, Anna

AU - Costantino, Antonella

AU - Cormier-Daire, Valerie

AU - FitzPatrick, David

AU - Grados, Marco

AU - Groves, Laura

AU - Guthrie, Whitney

AU - Huisman, Sylvia

AU - Kaiser, Frank J

AU - Koekkoek, Gerritjan

AU - Levis, Mary

AU - Mariani, Milena

AU - McCleery, Joseph P

AU - Menke, Leonie A

AU - Metrena, Amy

AU - O'Connor, Julia

AU - Oliver, Chris

AU - Pie, Juan

AU - Piening, Sigrid

AU - Potter, Carol J

AU - Quaglio, Ana L

AU - Redeker, Egbert

AU - Richman, David

AU - Rigamonti, Claudia

AU - Shi, Angell

AU - Tümer, Zeynep

AU - Van Balkom, Ingrid D C

AU - Hennekam, Raoul C

PY - 2018/10/1

Y1 - 2018/10/1

N2 - 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.

AB - 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.

U2 - 10.1038/s41576-018-0031-0

DO - 10.1038/s41576-018-0031-0

M3 - Review

C2 - 29995837

SN - 1471-0056

VL - 19

SP - 649

EP - 666

JO - Nature Reviews. Genetics

JF - Nature Reviews. Genetics

ER -

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

Abstract

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