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.
Study Type
OBSERVATIONAL
Enrollment
3,100
Pr Stanislas Lyonnet
Paris, France
RECRUITINGCharacterization 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
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