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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.

SUBMITTER: Kline AD 

PROVIDER: S-EPMC7136165 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature

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

Kline Antonie D AD   Moss Joanna F JF   Selicorni Angelo A   Bisgaard Anne-Marie AM   Deardorff Matthew A MA   Gillett Peter M PM   Ishman Stacey L SL   Kerr Lynne M LM   Levin Alex V AV   Mulder Paul A PA   Ramos Feliciano J FJ   Wierzba Jolanta J   Ajmone Paola Francesca PF   Axtell David D   Blagowidow Natalie N   Cereda Anna A   Costantino Antonella A   Cormier-Daire Valerie V   FitzPatrick David D   Grados Marco M   Groves Laura L   Guthrie Whitney W   Huisman Sylvia S   Kaiser Frank J FJ   Koekkoek Gerritjan G   Levis Mary M   Mariani Milena M   McCleery Joseph P JP   Menke Leonie A LA   Metrena Amy A   O'Connor Julia J   Oliver Chris C   Pie Juan J   Piening Sigrid S   Potter Carol J CJ   Quaglio Ana L AL   Redeker Egbert E   Richman David D   Rigamonti Claudia C   Shi Angell A   Tümer Zeynep Z   Van Balkom Ingrid D C IDC   Hennekam Raoul C RC  

Nature reviews. Genetics 20181001 10

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 m  ...[more]

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