Rare Disease Report

Face2Gene: Take a Headshot Get a Diagnosis

FEBRUARY 12, 2017
James Radke
A new App allows physicians an opportunity to diagnose rare diseases simply by taking a photo of the patient’s face. 
The program, using Facial Dysmorphology Novel Analysis (FDNA) technology, detects facial dysmorphic features and patterns of human malformations from photos and compares the information with its growing library to provide a diagnosis.
The App is called Face2Gene and is available for free on itunes and google play.  The App has been around for a couple years but because it relies on cloud sharing, it is only recently that it is starting to take hold as a means to diagnose people with rare conditions.

Numerous researchers have used the program to help diagnose rare conditions, including  3MC syndrome, Cornelia de Lange syndrome,  Turner syndrome, and numerous intellectual disability syndromes.

Face2Gene is for healthcare professionals only and is a HIPAA compliant platform. Information and photos uploaded by users remain private and accessible only to such users.
No information is shared unless the physician specifically chooses to share the information with another Face2Gene user or Face2Gene’s Forum.
Below is a Face2Gene tutorial to help explain the program.

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