This app diagnoses rare diseases just by looking at the patient’s face

Rare diseases are those whose prevalence is less than 5 cases per 10,000 people, according to the Rare Diseases Patient Registry. Within Spain, the most diagnosed are Tarlov cyst (276 people), Retinitis pigmentosa (172 people) and Dystrophic epidermolysis bullosa (164).

Although they are the most common, the numbers of those affected by these diseases are not very high. For this reason, there are times when doctors are not able to identify these conditions with complete precision and this is where technology can be used.

The first tests have been done with virtual patients with asthma problems, pneumonia, etc.


Face2Gene is an application that helps health specialists to find people with the same disease as their patients. In total, its algorithm is able to recognize approximately 300 disorders through a scanner of the face of individuals.

Not all rare diseases can be detected with the face, however, until now FDNA scientists had relied on this system to facilitate diagnoses.


This new proposal from FDNA and several international institutions aims to be much more precise and effective than the previous application. As they say, can distinguish about 1,000 rare diseases by relating the facial similarity of patients, so it triples the results of your other algorithm.

Photographs of 17,560 patients with 1,115 rare disorders were used to define a clinical facial phenotype space, in which the distances between the cases define the syndromic similarity”, they report on their website.

The Japanese humanoid robot that simulates the reactions of a five-year-old boy at the dentist.

The company explains that its tool was useful in diagnosing the children of two families from different countries. One was from Norway and one from Germany, both had growth problems, tremors and a triangular face.

The doctors of these patients used genetic sequencing and discovered that these had a mutation in a gene called LEMD2. With the help of the GestaltMatcher website, the health workers were able to contact each other and learn about other related cases.

Felix Marbach, a doctor at the University of Heidelberg who worked on the project when he was at the University of Cologne, commented that the algorithm “helped validate” experts when it comes to something new to them.

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