An observational study in Craniofacial Abnormalities, sponsored by Imagine Institute. Recruiting at 1 site in France. Per ClinicalTrials.gov, last updated 2026-02-20.
Sponsored by Imagine Institute · Observational
FACE.S-4-KIDS is an ambitious database project addressing the scientific question of the variable expression of craniofacial disorders in humans, to reach a sound clinical management (diagnosis, prognosis), and the establishment of personalised treatment plans.
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.
22 studies on the registry are indexed under Craniofacial Abnormalities; 3 are open to participants now.
This study's planned enrollment of 3,100 is above the median of 77 across 12 observational studies indexed under Craniofacial Abnormalities.
Browse Craniofacial Abnormalities studies →Imagine Institute is the lead sponsor of 31 studies on the registry; 15 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Patients suffering from one of the following pathologies:
Patients who have consulted the Genetics, Pediatrics or Maxillofacial Surgery Departments at Necker, France.
Inclusion Criteria for patients:
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).
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:
Inclusion Criteria for controls:
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)
Non-inclusion Criteria:
Opposition of the patient or his parents to the reuse of their data from care in this study
Characterization of the genotypic and phenotypic components of variability in rare genetic diseases with abnormalities of craniofacial development
Time frame: 19 years
Post-surgical clinical evolution profiles defined by changes in clinical, biological, and radiological parameters over time
Time frame: 19 years
High-resolution craniofacial phenotyping parameters and their association with disease severity scores
Time frame: 19 years
Investigation of the origins of phenotypic variability linked to perturbations in a limited group of signaling pathways
Time frame: 19 years
Identification and classification of genetic variants associated with posterior velopalatal cleft, with or without associated craniofacial or extra-craniofacial anomalies
Time frame: 19 years
Started Oct 2025 (actual). Primary completion is estimated for Oct 2031, 72 months after the start.
How these figures are worked out, and which studies are left out of them.
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
No contact was published for this record. The registry link below has the sponsor’s details.
Get an email when the registry record changes — status, dates, results — or when someone posts here.
Sign in to followQuestions and observations about this study, from anyone following it. Not medical advice, and not a channel to the study team — their contact details are on the registry record.
Sign in to join the discussion. Reading takes no account; posting does. You choose a display name, and a pseudonym is the default.
Nothing here yet. If you are running this trial, taking part in it, or weighing whether to, this is the place to say so.
Imagine Institute