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Nat Rev Genet. 2018 Oct;19(10):649-666. doi: 10.1038/s41576-018-0031-0.

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

Author information

1
Harvey Institute of Human Genetics, Greater Baltimore Medical Centre, Baltimore, MD, USA.
2
Cerebra Centre for Neurodevelopmental Disorders, School of Psychology, University of Birmingham, Birmingham, UK.
3
Department of Paediatrics, Presidio S. Femro, ASST Lariana, Como, Italy.
4
Kennedy Centre, Department of Paediatrics and Adolescent Medicine, Rigshospitalet, Glostrup, Denmark.
5
Division of Human Genetics, Children's Hospital of Philadelphia, and Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
6
GI Department, Royal Hospital for Sick Children, Edinburgh, Scotland, UK.
7
Departments of Otolaryngology and Pulmonary Medicine, Cincinnati Children's Hospital Medical Centre, University of Cincinnati, Cincinnati, OH, USA.
8
Division of Pediatric Neurology, Department of Paediatrics, University of Utah Medical Centre, Salt Lake City, UT, USA.
9
Paediatric Ophthalmology and Ocular Genetics, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, PA, USA.
10
Jonx Department of Youth Mental Health and Autism, Lentis Psychiatric Institute, Groningen, Netherlands.
11
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.
12
Department of Paediatrics, Haematology and Oncology, Department of General Nursery, Medical University of Gdansk, Gdansk, Poland.
13
Child and Adolescent Neuropsychiatric Unit, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, Italy.
14
CdLS Foundation UK and Ireland, The Tower, North Stifford, Grays, Essex, UK.
15
Harvey Institute of Human Genetics, Greater Baltimore Medical Center, Baltimore, MD, USA.
16
Department of Paediatrics, ASST Papa Giovanni XXIII, Bergamo, Italy.
17
Department of Genetics, INSERM UMR1163, Université Paris Descartes-Sorbonne Paris Cité, Hôpital Necker-Enfants Malades, Paris, France.
18
Human Genetics Unit, Medical and Developmental Genetics, University of Edinburgh Western General Hospital, Edinburgh, Scotland, UK.
19
Division of Child and Adolescent Psychiatry, John Hopkins University School of Medicine, Baltimore, MD, USA.
20
Centre for Autism Research, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
21
Department of Paediatrics, Academic Medical Centre, University of Amsterdam, Amsterdam, Netherlands.
22
Section for Functional Genetics, Institute for Human Genetics, University of Lübeck, Lübeck, Germany.
23
CdLS World Federation's, Hertogenbosch, Netherlands.
24
Wicomico County Board of Education, Salisbury, MD, USA.
25
Clinical Paediatric Genetics Unit, Paediatrics Clinics, MBBM Foundation, S. Gerardo Hospital, Monza, Italy.
26
Danbury Public Schools, Danbury, CT, USA.
27
Kennedy Krieger Institute, Johns Hopkins School of Medicine, Baltimore, MD, USA.
28
Department of Gastroenterology, Nationwide Children's, Columbus, OH, USA.
29
Genética Médica, Hospital del Este, Eva Perón, Tucumán, Argentina.
30
Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, Netherlands.
31
Department of Educational Psychology and Leadership, Texas Tech University, Lubbock, TX, USA.
32
The Sidney Kimmel Medical College of Thomas Jefferson University, Philadelphia, PA, USA.
33
Rob Giel Research Centre, Department of Psychiatry, University Medical Centre Groningen, Groningen, Netherlands.
34
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.

PMID:
29995837
DOI:
10.1038/s41576-018-0031-0

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