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

Research output: Contribution to journalReview article

Authors

  • Antonie D Kline
  • 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
  • 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

Colleges, School and Institutes

External organisations

  • Harvey Institute of Human Genetics, Greater Baltimore Medical Centre, Baltimore, MD, USA.
  • Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Birmingham, United Kingdom.
  • Department of Paediatrics, Presidio S. Femro, ASST Lariana, Como, Italy.
  • Kennedy Centre, Department of Paediatrics and Adolescent Medicine, Rigshospitalet, Glostrup, Denmark.
  • Division of Human Genetics, Children's Hospital of Philadelphia, and Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
  • GI Department, Royal Hospital for Sick Children, Edinburgh, Scotland, UK.
  • Departments of Otolaryngology and Pulmonary Medicine, Cincinnati Children's Hospital Medical Centre, University of Cincinnati, Cincinnati, OH, USA.
  • Division of Pediatric Neurology, Department of Paediatrics, University of Utah Medical Centre, Salt Lake City, UT, USA.
  • Paediatric Ophthalmology and Ocular Genetics, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, PA, USA.
  • Autism Team Northern-Netherlands Jonx Department of Youth Mental Health and Autism Lentis Psychiatric Institute Groningen
  • Unit of Clinical Genetics, Paediatrics, University Clinic Hospital 'Lozano Blesa' CIBERER-GCV02 and ISS-Aragón, Department of Pharmacology-Physiology and Paediatrics, School of Medicine, University of Zaragoza, Zaragoza, Spain.
  • Department of Paediatrics, Haematology and Oncology, Department of General Nursery, Medical University of Gdansk, Gdansk, Poland.
  • Child and Adolescent Neuropsychiatric Unit, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, Italy.
  • CdLS Foundation UK and Ireland, The Tower, North Stifford, Grays, Essex, UK.
  • Harvey Institute of Human Genetics, Greater Baltimore Medical Center, Baltimore, MD, USA.
  • Department of Paediatrics, ASST Papa Giovanni XXIII, Bergamo, Italy.
  • Department of Genetics, INSERM UMR1163, Université Paris Descartes-Sorbonne Paris Cité, Hôpital Necker-Enfants Malades, Paris, France.
  • Human Genetics Unit, Medical and Developmental Genetics, University of Edinburgh Western General Hospital, Edinburgh, Scotland, UK.
  • Division of Child and Adolescent Psychiatry, John Hopkins University School of Medicine, Baltimore, MD, USA.
  • Centre for Autism Research, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Department of Paediatrics, Academic Medical Centre, University of Amsterdam, Amsterdam, Netherlands.
  • Section for Functional Genetics, Institute of Human Genetics, University of Lübeck, Lübeck, Germany.
  • CdLS World Federation's, Hertogenbosch, Netherlands.
  • Wicomico County Board of Education, Salisbury, MD, USA.
  • Clinical Paediatric Genetics Unit, Paediatrics Clinics, MBBM Foundation, S. Gerardo Hospital, Monza, Italy.
  • Danbury Public Schools, Danbury, CT, USA.
  • Kennedy Krieger Institute, Johns Hopkins School of Medicine, Baltimore, MD, USA.
  • Department of Gastroenterology, Nationwide Children's, Columbus, OH, USA.
  • Genética Médica, Hospital del Este, Eva Perón, Tucumán, Argentina.
  • Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, Netherlands.
  • Department of Educational Psychology and Leadership, Texas Tech University, Lubbock, TX, USA.
  • The Sidney Kimmel Medical College of Thomas Jefferson University, Philadelphia, PA, USA.
  • Rob Giel Research Centre, Department of Psychiatry, University Medical Centre Groningen, Groningen, Netherlands.
  • Department of Paediatrics, Academic Medical Centre, University of Amsterdam, Amsterdam, Netherlands. r.c.hennekam@amc.uva.nl.

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.

Details

Original languageEnglish
JournalNature Reviews Genetics
Early online date11 Jul 2018
Publication statusE-pub ahead of print - 11 Jul 2018