From
Science Daily:
The general public easily recognises the faces of people with Down’s syndrome, but there are over 700 genetic conditions where there are characteristic facial features: the eyes may be set further apart than usual, the nose shorter and the ears set lower down on the head along with many other possible permutations.
Clinical geneticists are using
non-invasive 3D photography and novel analysis techniques are set to make the facial recognition easier.
Professor Peter Hammond from the UCL Institute of Child Health has developed new computer software that compares the faces of undiagnosed children with those with a diagnosed condition that also affects the development of their face, with a 90 per cent success rate...extensive collections of 3D face images of children and adults with the same genetic condition had to be gathered, as well as controls or individuals with no known genetic condition. Each image contains 25,000 or so points on a face surface capturing even the most subtle contours in 3D. The images are then converted to a compact form that requires only a 100 or so numeric values to represent each face in the subsequent analysis.
A great way to narrow down the number of different genetic screening tests to run:
Once the software has narrowed down conditions with similar facial features, molecular testing can then be used to confirm the diagnosis.
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