Craniofacial Abnormalities
Conditions
Keywords
Genetics, Rare disease, Craniofacial development, Dysmorphic syndromes, Deep phenotyping, Face and skull imaging
Brief 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.
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.
Interventions
None listed
Sponsors
Imagine Institute
Study design
Observational model
CASE_CONTROL
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Characterization of the genotypic and phenotypic components of variability in rare genetic diseases with abnormalities of craniofacial development | 19 years |
Secondary
| Measure | Time frame |
|---|---|
| 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 |
| Post-surgical clinical evolution profiles defined by changes in clinical, biological, and radiological parameters over time | 19 years |
| Identification and classification of genetic variants associated with posterior velopalatal cleft, with or without associated craniofacial or extra-craniofacial anomalies | 19 years |
Countries
France
Outcome results
None listed