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Genetics and Health

Genetic disorders that are written on our faces

by Elaine on September 10th, 2007

The subtle imprint left on children’s faces by rare genetic disorders could soon be spotted by computer to aid diagnosis. 

Scientists at University College London have developed software that is designed to spot slight variations in eye position and the shape of the head, nose, ears and jaw.  By comparing the features with those of an average child of the same age, the program can make a diagnosis with 90% accuracy. A trial will soon be underway at Great Ormond Street Children’s Hospital, London.

Of the 5,000 known genetic disorders, about 700 affect the face.  Some disorders are so rare that a physician might see them only once in a lifetime which may complicate an early diagnosis. An example is Williams syndrome which affects internal organs.  Children with this complaint have narrower heads, shorter noses and smaller jaws than average.  Boys with Fragile X syndrome, a major cause of inherited mental retardation, have elongated faces and ears that stick out.

A library of images taken all over the world on twin-lens 3D camera helped create the software.

Penny Harrington

b5 media Genetics and Health correspondent

POSTED IN: Genealogy and DNA, General Genetics and Health, Genetic Future, Genetic Ingenuity, Genetic Testing, clinical trial, gene therapy

2 opinions for Genetic disorders that are written on our faces

  • charlotte
    Sep 17, 2007 at 5:10 pm

    i ink dat pepz dat ave disorders r very brave 2 leave da house in da morning cause i would nt b able 2 cause i would b 2 scared of wat people would ink of me and i would nt b able 2 stand all of da stares from people xxxxxxxxxxxxxxxxxxxxxx
    so good on all those how can do it and nt b scared of wat people ink of you and nt b scared of all da sters dat you would get and people dat call all der m8ts to look and tack pics of you xxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxx
    charlotte xxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxx

  • Narconon Vista Bay
    May 22, 2008 at 12:56 am

    Well, I bet that al people with visible genetic disorders are leaving every day a horror movie. It’s not their fault for being as they are, it’s al about humans that mock on them and are completely silly with this, acting like children in school – or looking at those persons like he would be some kind of a monster.

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