Automatic recognition of the XLHED phenotype from facial images

Hadj-Rabia S, Schneider H, Navarro E, Klein O, Kirby N, Huttner K, Wolf L, Orin M, Wohlfart S, Bodemer C, Grange DK (2017)

Publication Type: Journal article

Publication year: 2017

Journal

American Journal of Medical Genetics Part A Wiley-Blackwell

Book Volume: 173

Pages Range: 2408-2414

Journal Issue: 9

DOI: 10.1002/ajmg.a.38343

Abstract

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.

Authors with CRIS profile

Holm Schneider Professur für Kinderheilkunde/Experimentelle Perinatalmedizin Sigrun Maier-Wohlfart Department of Paediatrics and Adolescent Medicine

Involved external institutions

University of Paris 5 - René Descartes / Université Paris V René Descartes FR France (FR) Ciber de Enfermedades Raras (CIBERER) ES Spain (ES) University of California San Francisco (UCSF) US United States (USA) (US) Edimer Pharmaceuticals US United States (USA) (US) FDNA Inc. US United States (USA) (US) Washington University US United States (USA) (US)

How to cite

APA:

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. https://dx.doi.org/10.1002/ajmg.a.38343

MLA:

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.

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