Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement
Research output: Contribution to journal › Review article › peer-review
Authors
Colleges, School and Institutes
External organisations
- Harvey Institute of Human Genetics, Greater Baltimore Medical Centre, Baltimore, MD, USA.
- University of Birmingham
- 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.
- University of Amsterdam
- 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 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.
- University of Amsterdam
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 language | English |
|---|---|
| Journal | Nature Reviews Genetics |
| Early online date | 11 Jul 2018 |
| Publication status | E-pub ahead of print - 11 Jul 2018 |