Overview

The field of artificial intelligence is booming in medicine and in the field of diagnosis. The data can be varied: x-rays, pathology sections, or photographs.

It is considered that 30 to 40% of the 7000 rare diseases described to date cause craniofacial dysmorphia. Their detection sometimes requires the trained eye of a geneticist, because certain phenotypic traits are subtle. These diagnostic difficulties and the fact that certain diseases are extremely uncommon lead to considerable diagnostic delays

Eligibility

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.