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 Tumer; 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 Tumer, Ingrid D. C. Van Balkom, Raoul C. Hennekam^*

^*Corresponding author for this work

Research output: Contribution to journal › Review article › Academic › peer-review

58 Citations (Scopus)

708 Downloads (Pure)

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
Pages (from-to)	649-666
Number of pages	18
Journal	Nature Reviews Genetics
Volume	19
Issue number	10
DOIs	https://doi.org/10.1038/s41576-018-0031-0
Publication status	Published - 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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Diagnosis and management of Cornelia de Lange syndrome first international consensus statementFinal publisher's version, 1.97 MBLicence: CC BY

Cite this

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(10), 649-666. https://doi.org/10.1038/s41576-018-0031-0

Kline, Antonie D. ; Moss, Joanna F. ; Selicorni, Angelo ; Bisgaard, Anne-Marie ; Deardorff, Matthew A. ; Gillett, Peter M. ; Ishman, Stacey L. ; Kerr, Lynne M. ; Levin, Alex V. ; Mulder, Paul A. ; Ramos, Feliciano J. ; Wierzba, Jolanta ; Ajmone, Paola Francesca ; Axtell, David ; Blagowidow, Natalie ; Cereda, Anna ; Costantino, Antonella ; Cormier-Daire, Valerie ; FitzPatrick, David ; Grados, Marco ; Groves, Laura ; Guthrie, Whitney ; Huisman, Sylvia ; Kaiser, Frank J. ; Koekkoek, Gerritjan ; Levis, Mary ; Mariani, Milena ; McCleery, Joseph P. ; Menke, Leonie A. ; Metrena, Amy ; O'Connor, Julia ; Oliver, Chris ; Pie, Juan ; Piening, Sigrid ; Potter, Carol J. ; Quaglio, Ana L. ; Redeker, Egbert ; Richman, David ; Rigamonti, Claudia ; Shi, Angell ; Tumer, Zeynep ; Van Balkom, Ingrid D. C. ; Hennekam, Raoul C. / Diagnosis and management of Cornelia de Lange syndrome : first international consensus statement. In: Nature Reviews Genetics. 2018 ; Vol. 19, No. 10. pp. 649-666.

@article{0e1f3509214944069fecd56c4df784fd,

title = "Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement",

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.",

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",

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 Tumer and {Van Balkom}, {Ingrid D. C.} and Hennekam, {Raoul C.}",

year = "2018",

month = oct,

doi = "10.1038/s41576-018-0031-0",

language = "English",

volume = "19",

pages = "649--666",

journal = "Nature Reviews Genetics",

issn = "1471-0056",

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number = "10",

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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, Tumer, Z, Van Balkom, IDC & Hennekam, RC 2018, 'Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement', Nature Reviews Genetics, vol. 19, no. 10, pp. 649-666. https://doi.org/10.1038/s41576-018-0031-0

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

In: Nature Reviews Genetics, Vol. 19, No. 10, 10.2018, p. 649-666.

Research output: Contribution to journal › Review article › Academic › peer-review

TY - JOUR

T1 - Diagnosis and management of Cornelia de Lange syndrome

T2 - first international consensus statement

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 - Tumer, Zeynep

AU - Van Balkom, Ingrid D. C.

AU - Hennekam, Raoul C.

PY - 2018/10

Y1 - 2018/10

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.

KW - BRACHMANN-DELANGE-SYNDROME

KW - AUTISM SPECTRUM DISORDER

KW - OF-THE-LITERATURE

KW - GENOTYPE-PHENOTYPE CORRELATIONS

KW - SELF-INJURIOUS-BEHAVIOR

KW - DU-CHAT-SYNDROMES

KW - CONGENITAL DIAPHRAGMATIC-HERNIA

KW - AUTOSOMAL-DOMINANT INHERITANCE

KW - RUBINSTEIN-TAYBI SYNDROMES

KW - TO-MALE TRANSMISSION

U2 - 10.1038/s41576-018-0031-0

DO - 10.1038/s41576-018-0031-0

M3 - Review article

VL - 19

SP - 649

EP - 666

JO - Nature Reviews Genetics

JF - Nature Reviews Genetics

SN - 1471-0056

IS - 10

ER -