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NIH Record - 75th Anniversary - National Institutes of Health

NIH Creates Atlas of Human Malformation Syndromes

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The Atlas of Human Malformation Syndromes in Diverse Populations is online at

Researchers with NHGRI have collaborated with physicians and medical geneticists around the world to create the Atlas of Human Malformation Syndromes in Diverse Populations. Health care providers can use the new atlas to diagnose diverse patients with inherited diseases by comparing physical traits (called phenotypes) and written descriptions of their symptoms with photos and descriptions of people with the same condition and ancestry. Previously, the only available diagnostic atlas featured photos of patients with northern European ancestry, which often does not represent the characteristics of these diseases in patients from other parts of the world. The free electronic atlas was announced online in Genetics in Medicine.

“This atlas is long overdue and much needed,” said Dr. Daniel Kastner, NHGRI scientific director. “The impact of such a resource will be immediate and profound for all health care providers who are diagnosing and treating birth defects and genetic diseases in people of diverse ancestry.”

Congenital malformations, also known as birth defects, are the leading cause of infant deaths and diseases worldwide. Examples include heart defects, such as missing or misshaped valves; abnormal limbs, such as a clubfoot; neural tube defects, such as spina bifida; and problems related to the growth and development of the brain and spinal cord. Birth defects can be caused by genes not working properly, missing or extra chromosomes or mothers’ exposure to medications and chemicals during pregnancy. 

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