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

Rare diseases are those with a prevalence of less than 5 cases per 10,000 people, as shown Rare disease patient registry. Within Spain, the most frequently diagnosed are Tarlov’s cyst (276 subjects), retinitis pigmentosa (172 subjects) and dystrophic epidermolysis bullosa (164).

Even if they are The most commonThe number of people infected with these diseases is not very high. For this reason, there are times when doctors are not able to identify these conditions with complete accuracy and this is where you can use technology.


Face2Gene is an app that helps health professionals find people who have the same thing illness of their patients. In total, the algorithm is able to recognize Nearly 300 disorders Through a face scanner.

Not all rare facial diseases can be detected, however, so far FDNA scientists have relied on this system to facilitate diagnosis.

Gestalt Matcher

This new proposal from the FDNA and several international institutions aims to be more accurate and effective than the previous one. Application. as they say, It can distinguish about 1000 rare diseases by associating facial similarity between patients, So the results of the other algorithm are tripled.

Photographs of 17,560 patients with 1,115 rare disorders were used To determine the facial phenotypic space, where the distances between cases determine syndromic similarity,” they report on their website.

The company explains that its tool has been useful in diagnosing children of two families from different countries. One was from Norway and the other from Germany, They both have developmental problems, tremor and a triangular face.

The doctors of these patients used genetic sequencing and discovered it These have a mutation in a gene called LEMD2. With the help of the site Gestalt MatcherThe toilets were able to communicate with each other and identify other related conditions.

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

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