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3D Facial Scans Could Speed Diagnoses for Children with Rare Genetic Diseases

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Credit: Genetics in Medicine

Most children with rare genetic diseases spend years undergoing medical tests and waiting for a diagnosis – a long, exhausting process that takes its toll on children and their families. Almost half of these children never get a definitive diagnosis.

Now an international team led by scientists and clinicians from the University of Colorado, University of Calgary, and UC San Francisco has developed a prototype tool based on 3D facial imaging that could shorten that diagnostic odyssey by making it easier for clinicians to diagnose genetic syndromes.

“Families tell us having a diagnosis for their ...