Does my patient show facial  dysmorphology?

To ease pediatrician’s clinical workflow, we have developed a different view in Face2Gene’s CLINIC. The Pediatrician View includes a newly developed technology, Facial D-Score,  that enables clinicians to receive a guideline about facial dysmorphology being present. This score can support the decision of referring the patient to genetic diagnostic workup. More information in this JMIR publication.

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.


See in this short video, Dr Karen Gripp explanation of this tool.

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.

In this recent publication, you can read how this has been used, as well as in this preliminary study.

Please contact us for any questions.

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.


Would you like to know more? Please contact us at

Face2Gene User Community Includes Users From:

  • Using Face2Gene to reference all my department’s cases, share information with my colleagues and quickly look up relevant information in the London Medical Databases Online saves me hours of work every week and allows me to focus on my patients.

    Dr. Ibrahim Akalin

    Assoc. Prof. Ibrahim Akalin, MD, Medical Geneticist from the Istanbul Medeniyet University, Istanbul, Turkey

  • FDNA’s game-changing technology introduces an objective computer-aided dimension to the “art of dysmorphology”, transforming the analysis into an evidence-based science.

    Dr. Michael R. Hayden

    Chairman of FDNA’s Scientific Advisory Board & Steering Committee and Editor in Chief of Clinical Genetics

  • FDNA is developing technology that has the potential to help so many physicians and families by bringing them closer to a diagnosis- there are literally millions of individuals with unusual features around the world that lack a diagnosis and therefore lack information on natural history, recurrence risk and prevention of known complications.

    Dr. Judith G. Hall

    Professor Emerita of Pediatrics & Medical Genetics UBC & Children's and Women's Health Centre of BC

  • FDNA has been “right on the money”, providing me with relevant, accurate and insightful information for differential diagnoses.

    Dr. Cynthia J.R. Curry

    Professor of Pediatrics UCSF, Adjunct Professor of Pediatrics Stanford

  • I am excited to be a part of the FDNA community, promoting broad information sharing with my peers to amplify the scientific and clinical value of our community’s accumulated knowledge for the purpose of efficiently diagnosing individuals with rare genetic disorders.

    Dr. Karen W. Gripp

    Chief, Division of Medical Genetics A.I. duPont Hospital for Children

  • FDNA's idea of incorporating several dysmorphology resources (OMIM, GeneReviews), supported by their visual analytic technology, will be able to improve researching of genetic syndromes - all within a single mobile app.

    Dr. Chad Haldeman-Englert

    Assistant Professor Pediatrics at Mission Fullerton Genetics

  • Given the advancement of visual analytical technology, it’s about time Dysmorphology is supported with computational capabilities and moving this to mobile support, is simply the next logical step.

    Dr. Chanika Phornphutkul

    Associate Professor of Pediatrics Director, Division of Human Genetics Department of Pediatrics Warren Alpert Medical School of Brown University

  • Having an archive of cases easily accessible from my mobile device anytime and anywhere is a long-time unmet need.

    Dr. Lynne Bird

    Rady Children's Specialists of San Diego

  • FDNA's solution is a huge leap forward for dysmorphology. It saves me significant time when I’m evaluating patients in my clinic and provides me with insightful tools that help me generate a differential diagnosis.

    Dr. David A. Chitayat

    Head of the Prenatal Diagnosis and Medical Genetics Program at Mount Sinai Hospital, Toronto

  • Shortly after learning about Face2Gene, I’ve started to incorporate this amazing tool into my workflow. Soon enough, Face2Gene’s analysis flushed out references that I would not have considered for several of my patients, which turned out to be their correct diagnosis

    Dr. Zvi U. Borochowitz

    Chairman (Retired) of The Simon Winter Institute for Human Genetics at Bnai-Zion Medical Center, Technion-Rappaport Faculty of Medicine

  • The Unknown Forum from Face2Gene is a great community platform for exchanging opinions regarding undiagnosed cases. It is straightforward to use and safe for exchange of medical data, thanks to the efforts of its developers and to the involvement of geneticists worldwide.

    Dr. Oana Moldovan

    Clinical Geneticist at the Hospital Santa Maria, CHLN, Lisbon, Portugal