ArticleAmerican journal of medical genetics. Part A2019
Cornelia de Lange syndrome in diverse populations.
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Article in American journal of medical genetics. Part A, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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21citing papers in PubMed
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Who cites it
21 citing papers in PubMed, 53 citations in OpenAlex.
- Unlocking 3D baby face photogrammetry: Multi-view BabyMorph reconstruction from uncalibrated photographs.Expert systems with applications · 2026Article
- Ophthalmological findings in Brazilian Cornelia de Lange syndrome patients with NIPBL variants.BMC ophthalmology · 2025Article
- Clinical and genetic characteristics of Cornelia de Lange syndrome in pediatric patients.Pediatric investigation · 2025Article
- Identification of two novel heterozygous variants of SMC3 with Cornelia de Lange syndrome.Molecular genetics & genomic medicine · 2024Article
- Advancing the Clinical and Molecular Understanding of Cornelia de Lange Syndrome: A Multidisciplinary Pediatric Case Series and Review of the Literature.Journal of clinical medicine · 2024Review
- Mutation profiling in South African patients with Cornelia de Lange syndrome phenotype.Molecular genetics & genomic medicine · 2024Article
- Article
- Population-specific facial traits and diagnosis accuracy of genetic and rare diseases in an admixed Colombian population.Scientific reports · 2023Article
- Delayed diagnosis and racial bias in children with genetic conditions.American journal of medical genetics. Part A · 2022Article
- X-Chromosome Inactivation and Related Diseases.Genetics research · 2022Review
- Facial analysis technology for the detection of Down syndrome in the Democratic Republic of the Congo.European journal of medical genetics · 2021Article
- Structural analysis of histone deacetylase 8 mutants associated with Cornelia de Lange Syndrome spectrum disorders.Journal of structural biology · 2021Article
- A Broader Perspective on the Prenatal Diagnosis of Cornelia de Lange Syndrome: Review of the Literature and Case Presentation.Diagnostics (Basel, Switzerland) · 2021Review
- A Chinese Case of Cornelia de Lange Syndrome Caused by a Pathogenic Variant inFrontiers in endocrinology · 2021Review
- Clinical and molecular analysis in a cohort of Chinese children with Cornelia de Lange syndrome.Scientific reports · 2020Article
- Abnormal Head Size in Children and Adolescents with Congenital Nervous System Disorders or Neurological Syndromes with One or More Neurodysfunction Visible since Infancy.Journal of clinical medicine · 2020Article
- Analysis of clinical and genetic characteristics in 10 Chinese individuals with Cornelia de Lange syndrome and literature review.Molecular genetics & genomic medicine · 2020Review
- Understanding the Landscape of X-linked Variants Causing Intellectual Disability in Females Through Extreme X Chromosome Inactivation Skewing.Molecular neurobiology · 2020Article
- Application of exome sequencing to diagnose a novel presentation of the Cornelia de Lange syndrome in an Afro-Caribbean family.Molecular genetics & genomic medicine · 2020Article
- De novoMedicina (Kaunas, Lithuania) · 2020Article
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Authors and funding
65 authors at 20 institutions in 15 countries.
Leah DowsettDivision of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.ORCID 0000-0002-8095-9793
Antonio R PorrasSheikh Zayed Institute for Pediatric Surgical Innovation, Children's National Health System, Washington, District of Columbia.
Paul KruszkaMedical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.ORCID 0000-0003-4949-0875
Brandon DavisMedical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.
Tommy HuMedical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.
Engela HoneyDepartment of Genetics, University of Pretoria, Pretoria, South Africa.
Eben BadoeSchool of Medicine and Dentistry, College of Health Sciences, University of Ghana, Accra, Ghana.
Meow-Keong ThongDepartment of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.
Eyby LeonDivision of Genetics and Metabolism, Children's National Health System, Washington, District of Columbia.
Katta M GirishaDepartment of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.ORCID 0000-0002-0139-8239
Anju ShuklaDepartment of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.ORCID 0000-0003-2471-4094
Shalini S NayakDepartment of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.
Vorasuk ShotelersukCenter of Excellence for Medical Genetics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
Andre MegarbaneResearch Institut, Institut Jérôme Lejeune, Paris, France.
Shubha PhadkeDepartment of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.ORCID 0000-0002-6624-082X
Nirmala D SirisenaHuman Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.
Vajira H W DissanayakeHuman Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka.
Carlos R FerreiraDivision of Genetics and Metabolism, Children's National Health System, Washington, District of Columbia.
Monisha S KislingDivision of Genetics and Metabolism, Children's National Health System, Washington, District of Columbia.
Pranoot TanpaiboonDivision of Genetics and Metabolism, Children's National Health System, Washington, District of Columbia.
Annette UwinezaCenter for Human Genetics, University of Rwanda, College of Medicine and Health Sciences, School of Medicine and Pharmacy, Kigali, Rwanda.
Leon MutesaCenter for Human Genetics, University of Rwanda, College of Medicine and Health Sciences, School of Medicine and Pharmacy, Kigali, Rwanda.
Cedrik Tekendo-NgongangDivision of Human Genetics, University of Cape Town, Cape Town, South Africa.
Ambroise WonkamDivision of Human Genetics, University of Cape Town, Cape Town, South Africa.
Karen FieggenDivision of Human Genetics, University of Cape Town, Cape Town, South Africa.
Leticia Cassimiro BatistaDepartment of Genetics, Institute of Biosciences, São Paulo State University-UNESP, São Paulo, Brazil.
Danilo Moretti-FerreiraDepartment of Genetics, Institute of Biosciences, São Paulo State University-UNESP, São Paulo, Brazil.
Roger E StevensonGreenwood Genetic Center, Greenwood, South Carolina.ORCID 0000-0002-1806-6345
Eloise J PrijolesGreenwood Genetic Center, Greenwood, South Carolina.
David EvermanGreenwood Genetic Center, Greenwood, South Carolina.ORCID 0000-0001-8331-992X
Kate ClarksonGreenwood Genetic Center, Greenwood, South Carolina.
Jessica WorthingtonGreenwood Genetic Center, Greenwood, South Carolina.
Virginia KimonisDepartment of Pediatrics, Division of Genetics and Genomic Medicine, University of California, Irvine, California.ORCID 0000-0003-1567-4449
Fuki HisamaDepartment of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington.
Carol CroweMetroHealth Medical Center, Case Western Reserve University School of Medicine, Cleveland, Ohio.
Paul WongDepartment of Pediatrics, Rush University Medical College, Chicago, Illinois.
Kisha JohnsonDepartment of Pediatrics, Rush University Medical College, Chicago, Illinois.
Robin D ClarkDivision of Medical Genetics, Department of Pediatrics, Loma Linda University School of Medicine, Loma Linda, California.
Lynne BirdDepartment of Pediatrics, University of California Sand Diego, San Diego, California.
Diane Masser-FryeDepartment of Genetics, Rady Children's Hospital, San Diego, California.
Marie McDonaldDivision of Medical Genetics, Department of Pediatrics, Duke Health, Durham, North Carolina.
Patrick WillemsGENDIA, GENetic DIAgnostic Network, Antwerp, Belgium.
Elizabeth RoederDepartment of Pediatrics and Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Sulgana SaittaDivision of Genetics, Department of Pediatrics, Cedars-Sinai Medical Center, Medical Genetics Institute, Los Angeles, California.
Kwame Anyane-YeobaDivision of Clinical Genetics, Columbia University Medical College, New York, New York.
Laurie DemmerDepartment of Pediatrics, Carolinas Medical Center, Charlotte, North Carolina.
Naoki HamajimaDepartment of Pediatrics, Nagoya City Jouhoku Hospital, Nagoya, Japan.
Zornitza StarkMurdoch Children's Research Institute, Victorian Clinical Genetics Services, Melbourne, Australia.
Greta GilliesBruce Lefroy Centre for Genetic Health Research, Murdoch Children's Research Institute, Melbourne, Australia.
Louanne HudginsDepartment of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Palo Alto, California.
Usha DaveHaffkine Institute, MILS International India, Mumbai, India.
Stavit ShalevHa'emek Medical Center, The Genetic Institute, Hafia, Israel.
Victoria SiuMedical Genetics Program, London Health Sciences Centre, Ontario, Canada.
Ann AdesThe Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania.
Holly DubbsDivision of Neurology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Sarah RaibleDivision of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Maninder KaurDivision of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Emanuela SalzanoDivision of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Laird JacksonDivision of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Matthew DeardorffDivision of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Antonie KlineDepartment of Pediatrics, Greater Baltimore Medical Center, Harvey Institute for Human Genetics, Baltimore, Maryland.ORCID 0000-0002-7863-2994
Marshall SummarDivision of Genetics and Metabolism, Children's National Health System, Washington, District of Columbia.
Maximilian MuenkeMedical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.
Marius George LinguraruSheikh Zayed Institute for Pediatric Surgical Innovation, Children's National Health System, Washington, District of Columbia.
Ian D KrantzDivision of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Children's Hospital of Philadelphia · USChildren's National · USGreenwood Genetic Center · USNational Institutes of Health · USManipal Academy of Higher Education · INUniversity of Cape Town · ZAAll India Institute of Medical Sciences · INRush University Medical Center · USUniversidade Estadual Paulista (Unesp) · BRUniversity of Colombo · LKUniversity of Kigali · RWBaylor College of Medicine · USCarolinas Medical Center · USCedars-Sinai Medical Center · USChulalongkorn University · THColumbia University Irving Medical Center · USDuke Medical Center · USEmek Medical Center · ILFondation Jérôme-Lejeune · FRGreater Baltimore Medical Center · US
Funding
VERTEBRATE ANIMAL MODELS OF CORNELIA DE LANGE SYNDROMEP01HD052860 · NICHD · CHILDREN'S HOSP OF PHILADELPHIA · PI KRANTZ, IAN D. · 2006 to 2015
$11.2MMEDICAL GENETICS RESEARCH TRAINING GRANTT32GM008638 · NIGMS · UNIVERSITY OF PENNSYLVANIA · PI Rebecca Ganetzky · 1997 to 2026
$8.7MSickle Africa Data Coordinating CenterU24HL135600 · NHLBI · UNIVERSITY OF CAPE TOWN · PI MULDER, NICOLA, WONKAM, AMBROISE · 2017 to 2025
$8.6MHearing Impairment Genetics Studies in Africa (HI-GENES Africa)U01HG009716 · NHGRI · UNIVERSITY OF CAPE TOWN · PI WONKAM, AMBROISE · 2017 to 2021
$1.2MCdLS Center Endowed Funds, Children's Hospital of PhiladelphiaChulalongkorn Academic Advancement Into Its 2nd Century ProjectDivision of Intramural Research, National Human Genome Research, NIHGovernment of Abu DhabiIntramural NIH HHS Z99 HG999999NHGRI NIH HHS U01 HG009716NHLBI NIH HHS U24 HL135600NICHD NIH HHS P01 HD052860NIGMS NIH HHS T32 GM008638PKS ItaliaPKSKids USAThailand Research Fund
Abstract
Cornelia de Lange syndrome (CdLS) is a dominant multisystemic malformation syndrome due to mutations in five genes-NIPBL, SMC1A, HDAC8, SMC3, and RAD21. The characteristic facial dysmorphisms include microcephaly, arched eyebrows, synophrys, short nose with depressed bridge and anteverted nares, long philtrum, thin lips, micrognathia, and hypertrichosis. Most affected individuals have intellectual disability, growth deficiency, and upper limb anomalies. This study looked at individuals from diverse populations with both clinical and molecularly confirmed diagnoses of CdLS by facial analysis technology. Clinical data and images from 246 individuals with CdLS were obtained from 15 countries. This cohort included 49% female patients and ages ranged from infancy to 37 years. Individuals were grouped into ancestry categories of African descent, Asian, Latin American, Middle Eastern, and Caucasian. Across these populations, 14 features showed a statistically significant difference. The most common facial features found in all ancestry groups included synophrys, short nose with anteverted nares, and a long philtrum with thin vermillion of the upper lip. Using facial analysis technology we compared 246 individuals with CdLS to 246 gender/age matched controls and found that sensitivity was equal or greater than 95% for all groups. Specificity was equal or greater than 91%. In conclusion, we present consistent clinical findings from global populations with CdLS while demonstrating how facial analysis technology can be a tool to support accurate diagnoses in the clinical setting. This work, along with prior studies in this arena, will assist in earlier detection, recognition, and treatment of CdLS worldwide.
Indexed as
Abnormalities, MultipleAdolescentAdultCell Cycle ProteinsChildChild, PreschoolChondroitin Sulfate ProteoglycansChromosomal Proteins, Non-HistoneDe Lange SyndromeFaceFemaleHumansImage Processing, Computer-AssistedInfantInfant, NewbornIntellectual DisabilityCell Cycle ProteinsChondroitin Sulfate ProteoglycansChromosomal Proteins, Non-HistoneNIPBL protein, humanSMC3 protein, humanCdLSCornelia de Lange syndromediverse populationsfacial analysis technologyNIPBLunderrepresented minorities
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