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

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• Pr Stanislas Lyonnet
  Paris, France Recruiting

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.