Facial recognition for an early diagnosis of Andersen-Tawil syndrome

Andersen-Tawil syndrome (or ATS) is a rare muscle channelopathy (1: 500,000) inherited in an autosomal dominant mode. Linked in the vast majority of cases to mutations in the gene coding for the Kir2.1 potassium channel, this syndrome associates to varying degrees hyperkalemic paralysis, arrhythmic heart disease and dysmorphic syndrome. Paralysis results in episodes of muscle deficit that can last for several hours or several days. Arrhythmic heart disease can be lethal if not caught in time. The dysmorphia is often subtle, especially on the face, and rarely readily recognized, resulting in substantial diagnostic delay in most cases. 

In an article published in December 2020, Italian researchers report on their experience using 3D stereophotogrammetry, a technique akin to facial recognition, applied to ATS. In twelve children or adults with ATS, a series of photographs in different plans were analyzed according to 38 face anatomical landmarks and compared to those of 477 healthy subjects. The facial dysmorphia classically reported in ATS has thus been objectively confirmed. Even more subtle abnormalities have also enriched the phenotype in several affected individuals. The technique is still in the field of research but could ultimately facilitate the work of the clinician. 


Distinctive facial features in Andersen-Tawil syndrome: A three-dimensional stereophotogrammetric analysis. C Dolci, VA Sansone, D Gibelli et al. Am J Med Genet A. 2020 (Dec).