Publications

The role of objective facial analysis using FDNA in making diagnoses following whole exome analysis. Report of two patients with mutations in the BAF complex genes.

April 26, 2016

Gripp KW, Baker L, Telegrafi A, Monaghan KG. The role of objective facial analysis using FDNA in making diagnoses following whole exome analysis. Report of two patients with mutations in the BAF complex genes. Am J Med Genet A. 2016 Apr 26. doi: 10.1002/ajmg.a.37672 Abstract The genetic basis of numerous intellectual disability (ID) syndromes has […]

Williams–Beuren syndrome: pitfalls for diagnosis in limited resources setting

February 12, 2016

Aimé Lumaka, Rita Lukoo, Gerrye Mubungu, Paul Lumbala, Gloire Mbayabo, Aimée Mupuala, Prosper Lukusa Tshilobo and Koenraad Devriendt, Williams–Beuren syndrome: pitfalls for diagnosis in limited resources setting. Clinical Case Reports 2016; 4(3): 294–297. Key Clinical Message Patients with Williams–Beuren Syndrome can be recognized clinically, given the characteristic dysmorphism, intellectual disability, and behavior. We report on […]

Highlighting phenotypic differences of Down Syndrome and Turner (45X) Syndrome Patients from different ethnic groups using computer-aided facial dysmorphology analysis

March 12, 2016

Kershenovich, R., & Lumaka, A. Presented at the American College of Medical Genetics and Genomics (ACMG) 2016 Annual Meeting in Tampa Florida. Introduction: As computer-aided facial dysmorphology analysis technology becomes more frequent in the clinic, the issue of phenotypic syndrome variation based on ethnicity has been highlighted. In this study, we compare the ability of this […]

Face2Gene Academy: a Review of a New Online Community-Based Dysmorphology Training Tool

February 1, 2016

With the title of “Face2Gene Academy: Revue d’un nouvel outil en ligne de formation à la Dysmorphologie basé sur la communauté” this poster written by Prof. Lina Basel-Vanagaite is presented at the Annual French Meeting of Human Genetics in Lyon, France. The goal of this computer-aided, dysmorphology training tool is to train and test residents […]

Recognition of the Cornelia de Lange Syndrome Phenotype with Facial Dysmorphology Novel Analysis

December 14, 2015

Lina Basel-Vanagaite, Lior Wolf, Melanie Orin, ,Lidia Larizza, Cristina Gervasini, Ian D. Krantz, ,Matthew A. Deardoff: DOI: 10.1111/cge.12716 Clinical Genetics 2015 Abstract Facial analysis systems are becoming available to healthcare providers to aid in the recognition of dysmorphic phenotypes associated with a multitude of genetic syndromes. These technologies automatically detect facial points and extract various measurements […]

The Face2Gene User Community

  • 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 Genetecist 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 Wake Forest Baptist Medical Center

  • 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