Skip to main content

New Study Identifies Which Physical Features Are Best Indicators of Down Syndrome in Diverse Populations

Down syndrome study is first in a series for new atlas to diagnose inherited diseases in individuals from diverse populations

Washington, DC – Physical features vary in patients with Down syndrome across diverse populations, according to a large international study published in the January 2017 issue of the American Journal of Medical Genetics. The study, led by the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, used an objective digital facial analysis technology developed by the Sheikh Zayed Institute for Pediatric Surgical Innovation at Children’s National Health System to identify the most relevant facial features characteristic in Down syndrome in diverse populations from 12 countries. This NHGRI study is the first to compare and contrast Down syndrome across diverse populations.

This study will be used in the NIH’s Atlas of Human Malformation Syndromes in Diverse Populations, a free resource to help clinicians around the world diagnose birth defects and genetic diseases in people of diverse ancestry, and is the first in a series focused on different genetic syndromes.

“Previous literature mainly focused on Northern European populations, so the intention of this study was to look at Down syndrome characteristics in different ethnic groups to create a more applicable resource that clinicians around the world can utilize,” said Max Muenke, MD, chief and senior investigator in the Medical Genetics Branch at NHGRI. “Recognizing a child’s diagnosis at birth is of immense benefit to patients and their families.” Dr. Muenke added that an earlier diagnosis of Down syndrome allows for appropriate preventive measures for these patients at risk for complications, such as congenital heart disease.

Using the digital facial analysis technology, the investigators were able to identify patients with Down syndrome with 94 percent accuracy. The study further showed that the accuracy of diagnosis increased significantly when the technology was applied to distinct populations. The study also concluded that the number and type of significant digital facial biometrics (measurements and analysis of physiological facial characteristics) vary between ethnic groups, a finding that promises to guide clinicians to more accurately diagnose Down syndrome internationally.

 “Our automated facial analysis technology quantifies facial features to identify a variety of genetic conditions in children and adults,” said Marius George Linguraru, DPhil of the Sheikh Zayed Institute for Pediatric Surgical Innovation at Children’s National, who is an investigator in the study. “We were excited to participate in this project that will create unprecedented objective references on genetic syndromes for local clinicians around the world.”

Paul Kruszka, MD, MPH, lead author and staff clinician in NHGRI’s Medical Genetics Branch said, “Physicians have more difficulty identifying patients with genetic syndromes in non-European populations and we are hoping that these types of studies will close this diagnosis gap.”

The next two studies in the series will focus on 22q11.2 deletion syndrome (also called DiGeorge syndrome) and Noonan syndrome and will again utilize the digital facial analysis technology.

NHGRI is one of the 27 institutes and centers at the NIH, an agency of the Department of Health and Human Services. The NHGRI Division of Intramural Research develops and implements technology to understand, diagnose and treat genomic and genetic diseases. Additional information about NHGRI can be found at:

The Sheikh Zayed Institute is pursuing the goal of making pediatric surgery more precise, less invasive and pain-free. By combining research and clinical work in the areas of imaging, bioengineering, pain medicine, immunology and personalized medicine, the Institute’s physicians and scientists are developing knowledge, tools and procedures that will benefit children globally. Learn more at

Contact: Hani Ukayli at 202-476-4500

About the National Institutes of Health (NIH)
NIH, the nation's medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit

Media Contacts