NCT06225141

Who might be able to join this trial:

• You are attending a medical genetics, jaw surgery, or craniofacial (skull and face) surgery appointment as part of care for a rare disease (in France, a condition affecting fewer than 30,000 people) that affects the appearance of your head or neck area
• You have a confirmed diagnosis of one of these specific conditions: Noonan syndrome, 22q11.2 deletion, Crouzon syndrome, Kabuki syndrome, Pitt Hopkins syndrome, Mowat Wilson syndrome, Cornelia de Lange syndrome, Treacher-Collins syndrome, Goldenhar syndrome, or Silver-Russell syndrome
• Photographs of your face and/or hands are already being taken as part of your normal care
• (For control participants — people without a rare disease) You are attending a jaw surgery appointment for a condition unrelated to a rare disease affecting facial appearance, such as a wound or gynecomastia (enlarged breast tissue in males), and photographs are being taken as part of your care

Who may not be able to join:

• You have had surgery on your face or skull before the first photograph for this study was taken
• You are under a court-ordered legal protection measure
• (For control participants) You have a condition that affects the symmetry of your face, such as a dental abscess or a displaced fracture
• (For control participants) You are being seen or monitored for any condition involving unusual facial features, or such a condition has been suspected

Important: Always verify eligibility with the trial site directly before applying.