RecruitingNCT07422454

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

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


Sponsor

Imagine Institute

Enrollment

3,100 participants

Start Date

Oct 16, 2025

Study Type

OBSERVATIONAL

Conditions

Summary

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.


Eligibility

Inclusion Criteria12

  • 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:
  • Chondroplasia and craniostenosis,
  • Constitutional Bone Diseases,
  • Developmental anomalies.
  • Patients who have undergone craniofacial imaging (CT or MRI) as part of their care.
  • 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)
  • 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 .
  • Patients who have undergone craniofacial imaging (CT or MRI) as part of their treatment.
  • Opposition of the patient or his parents to the reuse of their data from care in this study

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Locations(1)

Pr Stanislas Lyonnet

Paris, France

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NCT07422454


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