ArticleScientific reports2023
Population-specific facial traits and diagnosis accuracy of genetic and rare diseases in an admixed Colombian population.
Article in Scientific reports, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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9 citing papers in PubMed, 21 citations in OpenAlex.
- Expanding the KBG syndrome phenotype through 2D facial morphometry, clinical and molecular characterization.Biomedical reports · 2026Article
- Machine Learning, Large Language Models, and Multimodal AI for Diagnosing Pediatric Rare Diseases: Scoping Review.Journal of medical Internet research · 2026Article
- Evaluation of a Facial Dysmorphology Analysis Algorithm (Face2Gene) in Identifying Treacher Collins Syndrome Amongst Diverse Population.Orthodontics & craniofacial research · 2026Article
- Artificial intelligence for pediatric rare disease diagnosis: a multimethod study integrating published evidence and clinician interviews.BMC medical informatics and decision making · 2026Article
- NeuroDev: etiology and experience of neurodevelopmental disorders in Kenya and South Africa.medRxiv : the preprint server for health sciences · 2026Article
- Foundation models for radiology-the position of the AI for Health Imaging (AI4HI) network.Insights into imaging · 2025Review
- Neurofibromatosis-Noonan syndrome: a prospective monocentric study of 26 patients and literature review.Orphanet journal of rare diseases · 2025Review
- Three-Dimensional Geometric Morphometric Characterization of Facial Sexual Dimorphism in Juveniles.Diagnostics (Basel, Switzerland) · 2025Article
- Computer-based facial recognition as an assisting diagnostic tool to identify children with Noonan syndrome.BMC pediatrics · 2024Article
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Authors and funding
11 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Up to 40% of rare disorders (RD) present facial dysmorphologies, and visual assessment is commonly used for clinical diagnosis. Quantitative approaches are more objective, but mostly rely on European descent populations, disregarding diverse population ancestry. Here, we assessed the facial phenotypes of Down (DS), Morquio (MS), Noonan (NS) and Neurofibromatosis type 1 (NF1) syndromes in a Latino-American population, recording the coordinates of 18 landmarks in 2D images from 79 controls and 51 patients. We quantified facial differences using Euclidean Distance Matrix Analysis, and assessed the diagnostic accuracy of Face2Gene, an automatic deep-learning algorithm. Individuals diagnosed with DS and MS presented severe phenotypes, with 58.2% and 65.4% of significantly different facial traits. The phenotype was milder in NS (47.7%) and non-significant in NF1 (11.4%). Each syndrome presented a characteristic dysmorphology pattern, supporting the diagnostic potential of facial biomarkers. However, population-specific traits were detected in the Colombian population. Diagnostic accuracy was 100% in DS, moderate in NS (66.7%) but lower in comparison to a European population (100%), and below 10% in MS and NF1. Moreover, admixed individuals showed lower facial gestalt similarities. Our results underscore that incorporating populations with Amerindian, African and European ancestry is crucial to improve diagnostic methods of rare disorders.
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