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Digital Dysmorphology: Automated Early Detection of Genetic Syndromes from Photography

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Key Personnel

  • Marius George Linguraru, DPhil 
  • Marshall Summar, MD 
  • Juan Cerrolaza, PhD 
  • Ken Rosenbaum, MD 
  • Tim Moran, MBA

One in 150 children in the United States  is born with a chromosomal condition, including Down syndrome. The result is over 1 million children born worldwide every year with genetic syndromes, the cause of 15 percent to 53 percent of hospital admissions and 20-30 percent of childhood deaths. These children have high incidence of serious medical complications (cardiac, pulmonary, motor) and intellectual disability that require treatment and usually surgery. Because of these related complications, it is critical to detect genetic syndromes early. While the number of patients with genetic syndromes increases worldwide, the number of geneticists remains flat and genetic tests and medical costs are very expensive. Thus, current dysmorphology services are often overwhelmed and inefficient.

We developed a software technology that can assess a child immediately after he or she is born, without the need for blood tests or specialized clinics. This noninvasive test uses automated facial recognition as a screening tool and can make the detection of genetics syndromes as easy as a snapshot. An early prototype of the technology is already available with a graphic-user-interface to allow the easy analysis of photographic data on a laptop. After successful preclinical test results, we are preparing for extensive clinical validation and looking for partners for commercialization.