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

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

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.

Study Overview

• Status: Recruiting
• Conditions: Craniofacial Abnormalities

Detailed Description

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.

• Study Type: Observational
• Enrollment (Estimated): 3100

Contacts and Locations

Study Locations

• France
  • Paris, France
    • Recruiting
    • Pr Stanislas Lyonnet
    • Contact: Stanislas Lyonnet, Pr; Phone Number: 01 44 49 40 00; Email: stanislas.lyonnet@institutimagine.org

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

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 have consulted the Genetics, Pediatrics or Maxillofacial Surgery Departments at Necker, France.

Description

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

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort
Controls
Patients

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Characterization of the genotypic and phenotypic components of variability in rare genetic diseases with abnormalities of craniofacial development	19 years

Secondary Outcome Measures

Outcome Measure	Time Frame
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

Collaborators and Investigators

• Sponsor: Imagine Institute

Study record dates

Study Major Dates

• Study Start (Actual): October 16, 2025
• Primary Completion (Estimated): October 31, 2031
• Study Completion (Estimated): October 31, 2033

Study Registration Dates

• First Submitted: August 29, 2025
• First Submitted That Met QC Criteria: February 12, 2026
• First Posted (Actual): February 20, 2026

Study Record Updates

• Last Update Posted (Actual): February 20, 2026
• Last Update Submitted That Met QC Criteria: February 12, 2026
• Last Verified: December 1, 2025

More Information

Terms related to this study

• Keywords: Genetics; Rare disease; Deep phenotyping; Craniofacial development; Dysmorphic syndromes; Face and skull imaging
• Additional Relevant MeSH Terms: Musculoskeletal Diseases; Pathologic Processes; Disease Attributes; Musculoskeletal Abnormalities; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms; Rare Diseases; Facies; Craniofacial Abnormalities
• Other Study ID Numbers: HJ-23-FACE.S-4-KIDS

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No