Craniofacial AbnormalitiesFACES-4-KIDSNCT07422454
FACE.S-4-KIDS : A Deep Phenotyping Database of Craniofacial Anomalies During Development With 4 Pilot Projects
An observational study of Craniofacial Abnormalities, run by Imagine Institute at 1 site in France.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Craniofacial Abnormalities
- How many people
- 3,100 participants
- Where
- 1 siteFrance
- Study dates
- 16 Oct 2025to 31 Oct 2033
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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.
Who may be able to join
- 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.
Show all 13Show fewer
- 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.
- Non-inclusion Criteria:
- Opposition of the patient or his parents to the reuse of their data from care in this study
Who cannot join
None listed.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
France1 site, 1 recruiting
- Recruiting
Pr Stanislas Lyonnet
Paris
Stanislas Lyonnet, Pr, 01 44 49 40 00, stanislas.lyonnet@institutimagine.org
About this study
Official title: 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.
Read the 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.
- Conditions
- Craniofacial Abnormalities
- Keywords
- Genetics, Rare disease, Craniofacial development, Dysmorphic syndromes, Deep phenotyping, Face and skull imaging
- Medical subject headings
- Craniofacial Abnormalities, Rare Diseases, Facies
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Patients | Not described | |
| Controls | Not described |
What is being measured
The primary outcome is the main question the study is designed to answer.
Characterization of the genotypic and phenotypic components of variability in rare genetic diseases with abnormalities of craniofacial development
Measured: 19 years
Secondary outcomes (4)
Post-surgical clinical evolution profiles defined by changes in clinical, biological, and radiological parameters over time
Measured: 19 years
High-resolution craniofacial phenotyping parameters and their association with disease severity scores
Measured: 19 years
Investigation of the origins of phenotypic variability linked to perturbations in a limited group of signaling pathways
Measured: 19 years
Identification and classification of genetic variants associated with posterior velopalatal cleft, with or without associated craniofacial or extra-craniofacial anomalies
Measured: 19 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted20 Feb 2026
- Study start16 Oct 2025
- Primary completion31 Oct 2031 (estimated)
- Study completion31 Oct 2033 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Craniofacial AbnormalitiesStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Enrolment
- 3,100 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Imagine Institute
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07422454
- Sponsor's protocol ID
- HJ-23-FACE.S-4-KIDS
- Acronym
- FACES-4-KIDS
- Status last verified
- Dec 2025
- First submitted
- 29 Aug 2025
- Last updated
- 20 Feb 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 20 Feb 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- 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
- ClinicalTrials.gov ID
- NCT07422454
- Acronym / sponsor ID
- FACES-4-KIDS / HJ-23-FACE.S-4-KIDS
- Conditions
- Craniofacial Abnormalities
- Keywords
- Genetics, Rare disease, Craniofacial development, Dysmorphic syndromes, Deep phenotyping, Face and skull imaging
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 3,100 participants (estimated)
- Lead sponsor
- Imagine InstituteUniversity, hospital or other
- Study start
- 16 Oct 2025 (actual)
- Primary completion
- 31 Oct 2031 (estimated)
- Study completion
- 31 Oct 2033 (estimated)
- First posted
- 20 Feb 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 design
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Patients | – | – |
| Controls | – | – |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (13 listed)
- 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:
- 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:
Key exclusion criteria (0 listed)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Characterization of the genotypic and phenotypic components of variability in rare genetic diseases with abnormalities of craniofacial development
Time frame: 19 years
4 secondary outcomes
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
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 20 Feb 2026.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Craniofacial Abnormalities, run by Imagine Institute at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 13 inclusion and 0 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 20 Feb 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Each site lists its own contact: choose the nearest one under Trial locations. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Characterization of the genotypic and phenotypic components of variability in rare genetic diseases with abnormalities of craniofacial development (time frame: 19 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 20 Feb 2026.