Characterization and Recognition of Genetic Diseases by Photography

Inclusion Criteria

• •Patients having a medical genetics, maxillofacial surgery, or craniofacial surgery consultation as part of the management of a rare disease (in France, disease affecting less than 30,000 people) associated with dysmorphia at the level of the head or neck (area from the vertex to the clavicles): hypotelorism, hypertelorism, exophthalmos, brachycephaly, anterior plagiocephaly, micrognathia, microretrognathia, prognathia, low ear, oblique eyelid fissures above, oblique eyelid fissures below, narrow eyelid fissures , small mouth, anteverted nostrils, short nose, broad nose tip, broad nose bridge, prominent nose bridge.
• •Patients with a confirmed diagnosis of one of the following pathologies: Noonan, 22q11.2 deletion, Crouzon, Kabuki, Pitt Hopkins, Mowat Wilson, Cornelia de Lange, Treacher-Collins, Goldenhar or by Silver-Russel
• •Patients for whom photographs of the face and/or hands are taken as part of their treatment
• •Patients having a maxillofacial surgery consultation, as part of the management of a disease other than a rare disease associated with dysmorphia in the head or neck: acute pathology (wound) or chronic (gynecomastia).
• •Patients for whom photographs of the face and/or hands 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.
• •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.