Automatic Phenotyping of Patients on 2D Photography

Launched by IMAGINE INSTITUTE · Jan 12, 2024

Keywords

ClinConnect Summary

This clinical trial is exploring how artificial intelligence (AI) can help identify specific facial features associated with rare diseases, particularly those that cause changes in facial appearance, known as dysmorphia. The goal is to improve the diagnosis of these conditions, as they can often be difficult to recognize. Many rare diseases can lead to subtle changes in a person’s facial structure, and right now, it usually takes a trained specialist, like a geneticist, to notice these differences. The researchers aim to make this process faster and more accurate using AI technology on photographs of patients.

To participate in this trial, individuals must be receiving care in medical genetics or undergoing surgery related to their facial structure. This includes both patients with genetic conditions causing dysmorphia and those with other conditions that do not involve rare diseases. Participants will have frontal and side photographs of their faces taken as part of their treatment. It's important to note that those who have had previous facial surgery, or who have conditions affecting facial symmetry, will not be eligible. This trial is not currently recruiting participants, but it aims to significantly enhance how rare diseases related to facial features are diagnosed in the future.

Gender

ALL

Eligibility criteria

• The patient inclusion criteria are:
• • Patients followed in medical genetics,
• • Patients undergoing maxillofacial surgery, or craniofacial surgery as part of the management of a pathology, of genetic origin or not, associated with dysmorphism of the head and neck,
• • Patients for whom frontal and profile facial photographs are taken as part of their treatment.
• The inclusion criteria for control subjects are:
• • Patients followed in maxillofacial surgery, for a disease other than a rare disease associated with dysmorphia in the head or neck: acute pathology (wound) or chronic (gynecomastia).
• • Patients for whom frontal and profile facial photographs are taken as part of their treatment.
• The criteria for non-inclusion of patients are:
• • Patients who have undergone facial or skull surgery before the first photo was taken.
• • Person subject to a judicial safeguard measure.
• • People objecting to the reuse of their health data.
• The criteria for non-inclusion of control subjects are:
• • Pathologies affecting facial symmetry (dental cellulitis, displaced fractures).
• • Patient followed for dysmorphic syndrome or in whom dysmorphic syndrome has been suspected.
• • Person subject to a judicial safeguard measure.
• • People objecting to the reuse of their health data.