Facial screening project to assist with early diagnosis of Down syndrome in African children

Posted on March 18, 2016

Around 700 conditions have characteristic facial features associated with them. As a matter of fact, a baby’s facial features can often provide the first clues that they were born with a condition. Think for example of the flat nasal bridge and slanted eyes associated with Down syndrome, or the characteristic thin upper lip of a baby with foetal alcohol syndrome. These facial features can play an important role in the initial diagnosis of conditions, but they tend to vary by population group. Although a lot of research has been done on the subject in Europe and America to date, very little is actually known about the specific facial features associated with these conditions in African populations.

In terms of Down syndrome specifically, most Western infants with the condition are diagnosed before or shortly after birth, while their black African counterparts are often only diagnosed at around seven months or older. This is largely because doctors often struggle to see the link between the child’s facial features and a specific condition, owing to differences in how it presents in the facial features of different population groups. This presents a problem, as it is vitally important that these children are diagnosed as early as possible. Early detection not only makes it easier to successfully manage most conditions, but also helps doctors know which other associated conditions to look for and which developmental interventions to recommend to the child’s parents or care-takers. Children who are diagnosed late often miss out on crucial interventions and screenings that could have made an immense difference to their own, and their families’, quality of life.

Realising that this problem had to be addressed, a team of researchers from the University of Pretoria (UP), headed by Dr Vinet Coetzee from the Facial Morphology Research Group in the Department of Genetics, embarked on a project to identify the specific facial features associated with conditions in African infants and children.

As a starting point, the team needed accurate facial photographs of children with and without a condition. Dr Coetzee explains that 3D images are ideal for this purpose as they contain information in a range of different dimensions, which enables researchers to identify key facial features more accurately.

To this end, the team initially built their own 3D camera that successfully produced 3D images, but they soon realised that it was not accurate enough for their purposes. As commercial 3D cameras that work well on infants – who rarely sit still when you ask them to – are really expensive and there were apparently no commercial 3D facial imaging systems available in South Africa – or Africa for that matter – at that stage, the team started a crowd funding campaign to raise funds towards custom building a more accurate 3D camera that would meet their needs. The campaign, which ran on Walacea from 13 January to 1 March this year, was immensely successful and the team were able to raise all the funds they needed for the project to go ahead. In addition to the good response from the public and the scientific community in terms of funding, Canon also donated ten EOS 1200D cameras to be used as part of the project.

‘When we heard about this tremendous, forward-thinking project, we were excited to be involved in bringing it to fruition. We are pleased to be in a position to sponsor the necessary equipment to facilitate the building of a 3D camera for the facial morphology research project. This initiative has great potential to facilitate early diagnosis of syndromes in African children, allowing for timely treatment to be effected and improving prognoses,’ says Michelle Janse van Vuuren, Marketing Director at Canon South Africa.

The ten cameras will be used to construct a 3D camera. The setup will allow for the ten cameras to be triggered simultaneously and the resultant images will be used to build 3D models of the children’s faces. These 3D models will in turn be used to identify specific facial features associated with syndromes such as Down, Prader-Willi, Fragile X and Marfan in African infants.

During the first stage of the project, the team will only focus on identifying the facial features associated with Down syndrome in African children and infants. Once the groundwork has been laid, the team will include more researchers and more conditions in order to reach their ultimate goal of developing a facial screening tool to aid in the diagnosis of a variety of conditions in African infants and children.

Dr Emad Ghabrial from UP’s Department of Orthodontics, who is one of the core members of the team, will also be using the camera to more accurately identify (and track) nasal asymmetries in children with cleft lip and palate, in order to improve correction methods for these conditions.

‘This 3D camera can open so many doors for facial dysmorphology research in Africa. My hope is that our work will help diagnose children that would otherwise have slipped through the cracks,’ concludes Dr Coetzee.


World Down Syndrome Day is observed on 21 March every year. It is a global awareness day that has been officially observed by the United Nations since 2012. Remember to wear LOTS OF SOCKS on 21 March to raise awareness for Down syndrome!


- Author Ansa Heyl

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