Scientists have developed a programme to train computers to scan faces and spot genetic syndromes. They hope that by looking for specific facial traits the computer will help aid doctors with little experience of the conditions to be able to diagnose them.
Using a series of two dimensional full face photographs the computer has been trained to spot rare conditions like Cornelia de Lange, Fragile X and Williams-Beuren syndromes.
Charities are now hopeful that it will help doctors spot conditions at a much earlier stage.
Diagnosis
The computer programme represents the face in terms of a graph with 48 points, by comparing the position of these and the distances between them with those on faces in the data base it was able to recognise the conditions.
At first the computers were only 60% accurate, but then they were retrained to pay more attention to the eyes, nose, mouth and chin and the diagnosis rates shot up to 76%.
Previous studies attempting to identify syndromes using facial features have proved less reliable because they have not accounted for the whole facial make-up.
Sufferers with Cornelia de Lange syndrome generally share common characteristics which include slow growth; small stature; excessive body hair, upper limb and heart defects.
They also tend to have thin eyebrows that often meet in the middle, long eyelashes and a short upturned nose.
"TIf this works we would be delighted" |
A spokesman for the Cornelia de Lange Foundation |
Those with Williams-Beuren syndrome, suffer from a range of symptoms including heart defects, mental deficiency and high levels of calcium in infancy.
They tend to have wide mouths, full lips, small chin and puffiness around the eyes.
Those with Fragile X syndrome tend to have learning and behavioural problems and as they get older they generally have largish heads and prominent ears.
Although these facial characteristics can become more pronounced with age they can be quite difficult to spot in babies.
Accuracy
A spokesman for the Cornelia de Lange Foundation said they welcomed the discovery and looked forward to seeing how it could be adapted.
"We would be very interested in anything helps with accurate diagnosis as early as possible and if this works we would be delighted.
"It would be interesting to see if this works on diagnosing the milder forms of the condition."
Dr Dagmar Wieczorek, of the Institute for Human Genetics at the Universitaetsklinikum, in Essen, Germany, fed in 55 photos of people with the conditions and found the computer accurately predicted 76% of cases.
She told the European Society for Human Genetics, in Strasbourg: "It takes a particular skill to extract a disease specific pattern from a facial appearance that is also influenced by family background and environment.
"The idea is to help inexperienced clinicians to make more accurate diagnoses"
[Environment News Service]
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Last Revised at December 10, 2007 by Lusine Kazoyan, M.D.
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