Assess the level of dysmorphology with Face2Gene
To ease pediatrician’s clinical workflow, we have developed a new view in Face2Gene’s CLINIC. The Pediatrician View includes a newly developed technology, Facial D-Score, that enables clinicians to receive a guideline about the level of facial dysmorphology a patient may have. This score can support the decision of referring the patient to genetic diagnostic workup.
How to use the Facial D-Score?
After taking a portrait photo in Face2Gene’s Pediatrician View, the algorithms convert the image into a de-identified vector and then calculate a normalized score called the Facial D-Score. A higher D-Score means a greater possibility of dysmorphic features present in your patient’s photo.
A higher D-Score means a greater possibility of dysmorphic features present in your patient’s photo.
How was the Facial D-Score developed?
Based on two previously published algorithms, DeepGestalt (Nature Medicine) and GestaltMatcher (Nature Genetics), we built descriptors to differentiate between 2 classes of frontal facial photos: images of patients diagnosed with a rare genetic disease and presenting facial dysmorphology, and an equivalently sampled second class of images of unaffected individuals. The tool currently supports pediatric-aged patients only.
While more details will soon be published, you can read how this was used in a preliminary study.
The result can suggest if a genetic consultation is likely to be helpful or not.
How to explain the need to take a photo to parents?
There are unique facial patterns that can suggest an underlying genetic cause. Taking a photo and having Face2Gene analyze it can evaluate such facial patterns. The result can suggest if a genetic consultation is likely to be helpful.
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