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The Human Malformation Atlas


There are reference books for pretty much everything nowadays, and a new and initially surprising reference tool is about to be added to the list. The National Human Genome Research Insititute (NHGRI) has entered a collaboration with physicians, researchers and medical geneticists to produce something called the Atlas of Human Malformation Syndromes in Diverse Populations.

Human malformation syndromes have been widely studied – though further research is always needed – and the more significant part of the atlas’ name is the term “diverse populations.” Until recently, there were only diagnostic reference manuals that portrayed pictures of northern European patients or those with northern European ancestry.


In this case, eurocentrism actually made the work of healthcare providers and physicians more challenging. For a layman, the easiest example are phenotypic -physical – traits in patients with Down syndrome.

In northern European patients with Down syndrome, an upper eyelid skin fold can be a telling sign for Down syndrome. This so called epicanthic fold led to the slur mongoloid being used to describe patients with Down syndrome. This skin fold, however, is a common phenotypic feature in healthy people of Asian descent (mongoloid is also an often used old slur for Asians). When only provided with a reference tool including pictures of northern European patients, it can become challenging for healthcare providers to diagnose a condition early on.

Not surprisingly, the atlas will begin cataloging pictures of patients with Down syndrome and velocardiofacial syndrome, also known as 22q11.2 deletion syndrome. Both of these congenital malformations are relatively common. Down syndrome occurs in about 1 out of 1000 babies, whereas 22q11.2 deletion syndrome occurs in roughly 1 out of 4000 babies.

The atlas will not only contain pictures but rather descriptions of the congenital malformation and its features. Information will be easily accessible through a search function that allows the search by many different aspects.

The idea for the atlas was born when three Western clinical geneticists worked in African clinics. Dr. Muenke, Paul Kurszka and Adebowale Adeyemo noticed that they were having difficulties diagnosing the African children, as they had no reference tool available to help them arrive at a clear diagnosis.

When they were approached by local doctors in Nigeria and were being presented by them with photographs of children that they could not diagnose, they realized that not only they had this issue. Despite seeing cases of congenital malfunction in non-northern European patients on a regular basis, the African doctors also only had the Western reference tool. They decided to build the atlas.

Simply adding pictures of affected patients to a database obviously raised some ethical concerns. In order to tackle these head on, the NHGRI Bioethics Core was asked to perform an ethics consultation. There are now a number of steps that need to be followed before a picture and description can be added to the database. Patients, and in some cases their caregivers, need to give informed consent before their picture will be published. Local translators aid in explaining the ramifications of the project to the subjects and the process is individually tailored to the different communities.

Another difficulty with a project of this kind is that many congenital malformations are still subject to stigma and stereotyping. The nationality of the grandparents of the patients’ are added to the atlas, hoping that this will help against wrong connections between the genetic disease and the ethnicity.

The atlas is up and running with entries for three conditions at this point, but many more conditions are expected to follow. It is now important that physicians and health care providers across the globe will be informed about its existence. In the year and a half since the conception of the atlas, the three geneticists have worked with experts from a host of countries, spanning Asia, the Middle East, South America and Africa. Hopefully news about the atlas will travel equally far and enable physicians to arrive at the correct diagnosis early on. With birth defects being the leading cause for infant deaths, this tool may help fight the problem.