Automatic recognition of the XLHED phenotype from facial images

Beitrag in einer Fachzeitschrift

Details zur Publikation

Autorinnen und Autoren: Hadj-Rabia S, Schneider H, Navarro E, Klein O, Kirby N, Huttner K, Wolf L, Orin M, Wohlfart S, Bodemer C, Grange DK
Zeitschrift: American Journal of Medical Genetics Part A
Jahr der Veröffentlichung: 2017
Band: 173
Heftnummer: 9
Seitenbereich: 2408-2414
ISSN: 1552-4825


X-linked hypohidrotic ectodermal dysplasia (XLHED) is a genetic disorder that affects ectodermal structures and presents with a characteristic facial appearance. The ability of automated facial recognition technology to detect the phenotype from images was assessed . In Phase 1 of this study we examined if the age of male patients affected the technology's recognition. In Phase 2 we investigated how well the technology discriminated affected males cases from female carriers and from individuals with other ectodermal dysplasia syndromes. The system detected XLHED to be the most likely diagnosis in all genetically confirmed affected male patients of all ages, and in 55% of heterozygous females. Interestingly, patients with other ED syndromes were also detected by the XLHED-targeted analysis, consistent with shared developmental features. Thus the automated facial recognition system represents a promising non-invasive technology to screen patients at all ages for a possible diagnosis of ectodermal dysplasia, with greatest sensitivity and specificity for males affected with XLHED.

FAU-Autorinnen und Autoren / FAU-Herausgeberinnen und Herausgeber

Schneider, Holm Prof. Dr.
Professur für Kinderheilkunde/Experimentelle Perinatalmedizin
Wohlfart, Sigrun Dr. rer. nat.
Kinder- und Jugendklinik

Einrichtungen weiterer Autorinnen und Autoren

Ciber de Enfermedades Raras (CIBERER)
Edimer Pharmaceuticals
University of California San Francisco (UCSF)
University of Paris 5 - René Descartes / Université Paris V René Descartes
Washington University


Hadj-Rabia, S., Schneider, H., Navarro, E., Klein, O., Kirby, N., Huttner, K.,... Grange, D.K. (2017). Automatic recognition of the XLHED phenotype from facial images. American Journal of Medical Genetics Part A, 173(9), 2408-2414.

Hadj-Rabia, Smail, et al. "Automatic recognition of the XLHED phenotype from facial images." American Journal of Medical Genetics Part A 173.9 (2017): 2408-2414.


Zuletzt aktualisiert 2018-09-11 um 15:08