Common FAQs

For FAQs about the Face2Gene RESEARCH app, visit this page

Face2Gene, developed by FDNA, is a suite of phenotyping applications that facilitates comprehensive and precise genetic evaluations.

FDNA is an artificial intelligence company focused on developing next-generation phenotyping (NGP) technologies to aid clinicians, researchers, and genetic testing labs in finding answers and treatments for hundreds-of-millions of patients globally living with a genetic disease.

Face2Gene is designed to be used by healthcare professionals in their daily work. We review and validate each registration request to confirm that the user is a healthcare professional.

Face2Gene is offered free-of-charge to healthcare professionals. By using Face2Gene, you help us improve our technology, so FDNA is committed to keeping Face2Gene free-of-charge for the benefit of the whole genetics community.

The Pediatrician View is a technology recently developed by FDNA and available on Face2Gene that allows physicians to receive guidance on the level of facial dysmorphology a patient may have. This may support the decision to refer the patient for a genetic diagnostic study. For more information visit…

Yes! Face2Gene is used by both individuals and by teams who manage and share cases as a group. The Face2Gene Teams feature is designed for teams and genetics departments to streamline case and workflow management. If your team would like to use the Teams feature, create your free Face2Gene accounts and contact us at to set up your team.

Unfortunately, those who are not healthcare professionals cannot use the Face2Gene app.  However, we welcome you to encourage your doctor(s) to visit, create a free account, and access the tools and analysis immediately. For more information, click here.

The Face2Gene team often works with advocacy groups to help facilitate accurate and early diagnosis of genetic conditions and enable improved care and management. To learn more about collaborative research with FDNA, please contact our team at

Before using Face2Gene for the first time, you will need to register to create an account. You can register by downloading the mobile app from Google Play or the App Store, or via the Face2Gene “Register” page. We review all registration applications to ensure Face2Gene is used exclusively by healthcare professionals. It may take up to two business days to activate your full account access, during that time you will have access to a limited set of Face2Gene features.

Face2Gene now has the GestaltMatcher algorithm for you to match Ultra-rare and Undiagnosed Cases.

Similarities among patients with previously unknown disease genes can also be detected, and these are displayed in the Undiagnosed tab. If a patient can be a possible match, you can connect to the clinician.

How to use it?

Face2Gene is a genetic search and reference tool designed to be used exclusively by healthcare professionals. Using Face2Gene is simple! Just log in to Face2Gene on the web or the mobile app. For more information, check out the Face2Gene CLINIC demo video.

We’ll be more than happy to schedule a web demonstration. This could be a personal demo, or part of a seminar or periodic meeting for you and your colleagues. Please contact us at to schedule.

  1. Log in to open the CLINIC application in Face2Gene.
  2. Press the “New Case” tab or the orange “Add New Case” button.
  3. Input information about the patient and upload the patient’s photos.
  4. View suggested syndromes in the “Case Analysis” section to see possibly relevant syndromes based on the patient facial image.
  5. Add patient features in the “Refine Phenotype” section to update your syndrome suggestions based on phenotype.
  6. If the patient is later diagnosed, you can mark the relevant syndrome as either “Clinically diagnosed” or “Molecularly diagnosed”

Closing a case by assigning a definitive diagnosis helps improve the system and makes it better with each additional closed case.

Face2Gene leverages the cumulative knowledge of its users – simply put, the more genetic healthcare professionals use Face2Gene, the better it becomes, delivering direct benefit back to the community. To protect patient privacy, the “training” process is performed automatically and only cases with a validated diagnosis are used to train the system.

See more information and watch a tutorial video of how to assign a diagnosis to your cases here.

You can click the “Support” button, which looks like this:

From there, you can search for articles to answer your questions, or you can message a Face2Gene team member to ask your question and they will get back to you, typically within 30 minutes.

FDNA and London Medical Databases (LMD) have partnered to make LMD’s award-winning databases available online, exclusively through Face2Gene LIBRARY. You can create a free Face2Gene account and sample Face2Gene LIBRARY content and search functionality here.  For full access, you can purchase an individual or institutional LMD license in Face2Gene LIBRARY, or you may contact us at for invoices or additional subscription information.

No. Any photos and identifiable health information that you add to your case are not shared with anyone. Only you have access to your patients’ private information, and that information will not be shared unless you explicitly decide to share a case with another Face2Gene user or in Face2Gene’s Online Unknown Forum.

When using Face2Gene, you upload patient photos and information into your private case library which is accessible only to you. If you routinely capture consent for patient photos for clinical purposes, then your private use of Face2Gene is covered under your existing consent, and you do not need to capture additional consent. If you do not have a standard consent for clinical photos, you can use FDNA’s model consent. If you elect to share your case with other Face2Gene users, you should make sure your consent allows for sharing, or you should use our model consent for this purpose.

Yes, FDNA and the Face2Gene applications are HIPAA compliant. Please see our HIPAA Compliance Declaration for more details.

Yes, FDNA and the Face2Gene applications are GDPR compliant. Please see our GDPR Compliance Declaration for more details.

Patient privacy is of the utmost importance to us. Face2Gene is an ISO 27001 Certified, HIPAA compliant, and GDPR compliant platform. Information and photos uploaded by users remain private and accessible only to such users and is not shared unless the user actively decides to share. Please see our Privacy Policy for more details.

All photos uploaded into your Face2Gene account are stored in your private case library, available only to you. When you add a photo to Face2Gene, the technology automatically extracts a digital representation of the face, which is not identifiable. Only the de-identified facial data is analyzed by the Face2Gene system (not the actual photo). Some cases that have a clear diagnosis are used to help train the Face2Gene technology. This allows us to enhance the technology for the benefit of the entire genetics community. However, only the de-identified digital facial data is used for this training. For more information, you can review FDNA’s Data Sharing & Protection Policy.

Yes, we are happy to work with your institutional compliance and legal teams to seek approval for institutional use of Face2Gene. For more info, contact us at You may also review our Terms of Use.

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