FACE.S-4-KIDS : A Deep Phenotyping Database of Craniofacial Anomalies During Development With 4 Pilot Projects

FACE.S-4-KIDS takes advantage of large cohorts of well-characterized and genotyped craniofacial anomaly patients, clinical departments (medical, surgical and imaging) with dysmorphology experts, and leading basic science laboratories, all located on a single site, and generating vast amounts of data - patient records, imaging, photographs, genomics, models - but lacking a unifying structure allowing multimodal assessments.

Primary outcomes

• Characterization of the genotypic and phenotypic components of variability in rare genetic diseases with abnormalities of craniofacial development [19 years]

Secondary outcomes

• Post-surgical clinical evolution profiles defined by changes in clinical, biological, and radiological parameters over time [19 years]
• High-resolution craniofacial phenotyping parameters and their association with disease severity scores [19 years]
• Investigation of the origins of phenotypic variability linked to perturbations in a limited group of signaling pathways [19 years]
• Identification and classification of genetic variants associated with posterior velopalatal cleft, with or without associated craniofacial or extra-craniofacial anomalies [19 years]

Sex: All

Inclusion Criteria for patients:

1. Patients suffering from one of the following pathologies:

   craniostenosis linked to FGFR signaling, achondroplasia / hypochondroplasia, osteogenesis imperfecta, Pierre Robin sequence (with or without anatomical markers).
2. Patients who may or may not have benefited from genome sequencing as part of their care and who (or holders of parental authority where applicable) have consented to the conservation of the remains of their biological samples in one of these collections:

   * Chondroplasia and craniostenosis,
   * Constitutional Bone Diseases,
   * Developmental anomalies.
3. Patients who have undergone craniofacial imaging (CT or MRI) as part of their care.

Inclusion Criteria for controls:

1. Patients who have consulted the Genetics, Pediatrics or Maxillofacial Surgery Departments at Necker, with none of these pathologies:

   FGFR-related craniosynostoses Chondroplasia / hypochondroplasia Osteogenesis imperfecta Pierre Robin sequence (with or without anatomical marker)
2. Patients who have benefited from genome sequencing as part of their care and who have (or holders of parental authority where applicable) consented to the conservation of the remains of their biological samples in the "Infectious Diseases" collection .
3. Patients who have undergone craniofacial imaging (CT or MRI) as part of their treatment.

Non-inclusion Criteria:

Opposition of the patient or his parents to the reuse of their data from care in this study