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Am J Med Genet A. 2017 Jan;173(1):42-53. doi: 10.1002/ajmg.a.38043.

Down syndrome in diverse populations.

Author information

Medical Genetics Branch, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.
Sheikh Zayed Institute for Pediatric Surgical Innovation, Children's National Health System, Washington DC.
Department of Biochemistry, St. George's University, St. George's, Grenada, West Indies.
Faculty of Medicine, Department of Pediatrics, Center of Excellence for Medical Genetics, Chulalongkorn University, Bangkok, Thailand.
Department of Paediatrics and Adolescent Medicine, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, Hong kong, China.
Center of Human Genetics/ School of Medicine and Pharmacy, College of Medicine and Health Sciences, University of Rwanda, Kigali, Rwanda.
Servicio de Genética Hospital de Pediatría Garrahan, Buenos Aires, Argentina.
Department of Paediatrics College of Medicine, University of Lagos, Lagos University Teaching Hospital Idi-Araba, Lagos, Nigeria.
Department of Pediatrics and Medical Genetics, National Taiwan University Hospital, Taiwan.
Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.
Mazumdar Shaw Medical Center, Narayana Health City, Bangalore, India.
Department of Paediatrics, KK Women's and Children's Hospital, Singapore.
Dr. Shroff Charity Eye Hospital, New Delhi, India.
Faculty of Medicine, Human Genetics Unit, University of Colombo, Sri Lanka.
Hospital for the Rehabilitation of Craniofacial Anomalies, São Paulo University, Brazil.
Faculty of Medicine, Department of Paediatrics, University of Malaya, Kuala Lumpur, Malaysia.
Division of Medical Genetics, Department of Pediatrics, University of Mississippi Medical Center, Jackson, Mississippi.
Center for Research on Genomics and Global Health, National Human Genome Research Institute, The National Institutes of Health, Bethesda, Maryland.
Division of Genetics and Metabolism, Children's National Health System, Washington DC.


Down syndrome is the most common cause of cognitive impairment and presents clinically with universally recognizable signs and symptoms. In this study, we focus on exam findings and digital facial analysis technology in individuals with Down syndrome in diverse populations. Photos and clinical information were collected on 65 individuals from 13 countries, 56.9% were male and the average age was 6.6 years (range 1 month to 26 years; SD = 6.6 years). Subjective findings showed that clinical features were different across ethnicities (Africans, Asians, and Latin Americans), including brachycephaly, ear anomalies, clinodactyly, sandal gap, and abundant neck skin, which were all significantly less frequent in Africans (P < 0.001, P < 0.001, P < 0.001, P < 0.05, and P < 0.05, respectively). Evaluation using a digital facial analysis technology of a larger diverse cohort of newborns to adults (n = 129 cases; n = 132 controls) was able to diagnose Down syndrome with a sensitivity of 0.961, specificity of 0.924, and accuracy of 0.943. Only the angles at medial canthus and ala of the nose were common significant findings amongst different ethnicities (Caucasians, Africans, and Asians) when compared to ethnically matched controls. The Asian group had the least number of significant digital facial biometrics at 4, compared to Caucasians at 8 and Africans at 7. In conclusion, this study displays the wide variety of findings across different geographic populations in Down syndrome and demonstrates the accuracy and promise of digital facial analysis technology in the diagnosis of Down syndrome internationally.


diverse populations; down syndrome; facial analysis technology; trisomy 21

[Indexed for MEDLINE]

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