Facial recognition technology can effectively diagnose a rare genetic disease that causes multiple defects throughout the body in some cases, according to a new study published in the American Journal of Medical Genetics.
The disease is called 22q11.2 deletion syndrome. The condition is also known as DiGeorge syndrome and velocardiofacial syndrome. The genetic disease affects approximately 1 in 3,000 to 1 in 6,000 children and may lead to cleft palate, heart defects, a characteristic facial appearance and learning problems. The condition can be difficult to identify, especially among diverse populations.
For the study, researchers examined the clinical information of 106 patients suffering from the syndrome and 101 pictures of these patients. The patients were from 11 different countries across Africa, Asia and Latin America. Researchers found the appearance of individuals varied widely.
"Human malformation syndromes appear different in different parts of the world," said Paul Kruszka, MD, a medical geneticist with National Human Genome Research Institute, part of the National Institutes of Health, and one of the study's authors. "Even experienced clinicians have difficulty diagnosing genetic syndromes in non-European populations."
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Using facial recognition technology, researchers then compared 156 individuals with the disease to 156 individuals who did not have the disease. The ethnic groups represented in this phase of the study included Caucasians, Africans, Asians and Latin Americans. Using the facial recognition technology, researchers were able to diagnose the condition with an accuracy rate of 96.6 percent.
The study's authors concluded facial recognition technology "will assist in earlier detection and in increasing recognition of 22q11.2 DS throughout the world."
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