NIH creates Atlas of Human Malformation Syndromes in Diverse Populations

NIH | MAY 1, 2016

Researchers with the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health, have collaborated with physicians and medical geneticists around the world to create the Atlas of Human Malformation Syndromes in Diverse Populations.

An eight-year-old boy with Down syndrome. Image credit: Vanellus Foto/Wikipedia (CC BY-SA 3.0)

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.

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.

When complete, the atlas will consist of photos of physical traits of people with many different inherited diseases around the world, including Asia, the Indian subcontinent, the Middle East, South America and sub-Saharan Africa.

In addition to the photos, the atlas will include written descriptions of affected people and will be searchable by phenotype (a person’s traits), syndrome, continental region of residence and genomic/molecular diagnosis.

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