Genetic disorders are often written in the face. People with Down syndrome, caused by an extra copy of chromosome 21, tend to have flattened noses, eyes that slant upward and small ears. People with the rare Marfan syndrome often have long, thin faces with deep-set eyes and small lower jaws. Even some children with autism — a heterogeneous disorder with myriad susceptibility genes — have unusual facial features, or dysmorphology. In fact, in his original description of autism in 1943, Leo Kanner noted that some boys with the disorder have distinctive, “beautiful” faces. These subtle features may hold clues about the origins of autism. But quantifying them using traditional tools, such as tape measures and calipers, is both labor-intensive and error-prone — particularly when studying children. Many scientists are uncomfortable with or downright skeptical of the practice, given its similarity to the notorious pseudoscience of phrenology, which attempts to predict a person’s character from the shape of his or her skull. Now a group of dysmorphologists, armed with faster, more accurate and less invasive measurement systems, is reviving this once-tedious trade. In a study published 29 October in the Journal of Autism and Developmental Disorders, they identified three distinct patterns of facial structures among 62 boys with autism1. One of these patterns tracks with low intelligence and language impairment.
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