FACE.S-4-KIDS: Deep phenotyping database for childhood craniofacial differences

FACE.S-4-KIDS : FACE and SKULL for Key Innovative Data Science. Une Base de données de phénotypage Profond Des Anomalies Craniofaciales au Cours du développement

This project will build a detailed clinical, imaging, photographic, and genetic database to see if combining these data helps doctors better diagnose and plan care for children with craniofacial anomalies.

Quick facts

• Study type: Observational
• Enrollment: 3100 (estimated)
• Sex: All
• Sponsor: Imagine Institute (other)
• Locations: 1 site (Paris)
• Trial ID: NCT07422454 on ClinicalTrials.gov

What this trial studies

FACE.S-4-KIDS collects standardized clinical records, high-resolution imaging (CT/MRI), facial photographs, genomic data, and biological samples from well-characterized pediatric patients with craniofacial anomalies and matched controls at a single center. The project organizes these multimodal data into a unified database and runs four pilot projects to explore genotype–phenotype relationships and developmental variability. By integrating surgical, medical, imaging, and laboratory expertise on site, the effort aims to enable consistent, multimodal assessments and longitudinal tracking. The database will support future research on diagnosis, prognosis, and personalized treatment planning.

Who should consider this trial

Good fit: Ideal candidates are children with diagnosed craniofacial conditions such as FGFR-related craniosynostosis, achondroplasia/hypochondroplasia, osteogenesis imperfecta, or Pierre Robin sequence who have undergone craniofacial imaging (CT or MRI) and consent to sample/data storage.

Not a fit: Patients without the listed craniofacial conditions, those who have not had craniofacial imaging or who do not consent to data/sample storage, and individuals unable to attend the single study site are unlikely to benefit directly from this project.

Why it matters

Potential benefit: If successful, the database could lead to more accurate diagnoses, better prognostic information, and more individualized treatment plans for children with craniofacial anomalies.

How similar studies have performed: Prior registries and genotype–phenotype studies in craniofacial genetics have produced useful diagnostic and research insights, but a single-site, multimodal deep phenotyping database linking imaging, photos, genomics, and longitudinal clinical data is relatively novel.

Eligibility criteria

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

Where this trial is running

Paris

• Pr Stanislas Lyonnet — Paris, France (RECRUITING)

Conditions: Craniofacial Abnormalities, Genetics, Rare disease, Craniofacial development, Dysmorphic syndromes, Deep phenotyping, Face and skull imaging