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d'Apert","vocab":"cim-11","extLink":[{"title":"CIM-11","uri":"http:\/\/id.who.int\/icd\/entity\/1962779847"}]},{"topic":"Syndrome de Pfeiffer","vocab":"cim-11","extLink":[{"title":"CIM-11","uri":"http:\/\/id.who.int\/icd\/entity\/1075159878"}]},{"topic":"Maladie de Crouzon","vocab":"cim-11","extLink":[{"title":"CIM-11","uri":"http:\/\/id.who.int\/icd\/entity\/1535725821"}]},{"topic":"D\u00e9terminants li\u00e9s au syst\u00e8me de sant\u00e9","vocab":"health determinant"},{"topic":"D\u00e9terminants li\u00e9s au syst\u00e8me de sant\u00e9 : Qualit\u00e9 des soins","vocab":"health determinant"},{"topic":"D\u00e9terminants biologiques","vocab":"health determinant"},{"topic":"D\u00e9terminants biologiques : Pr\u00e9disposition g\u00e9n\u00e9tique","vocab":"health determinant"}],"purpose":"Caract\u00e9riser les composantes g\u00e9notypiques et ph\u00e9notypiques de la variabilit\u00e9 des maladies g\u00e9n\u00e9tiques rares pr\u00e9sentant des anomalies du d\u00e9veloppement cranio-facial.","abstract":"Un grand nombre de maladies g\u00e9n\u00e9tiques rares convergent en pr\u00e9sentant des anomalies du d\u00e9veloppement cr\u00e2niofacial (plus de 2.100), quelles que soient les modalit\u00e9s \r\nd'expression de la maladie. La syndromologie et la dysmorphologie visent \u00e0 r\u00e9aliser des diagnostics performants par une analyse clinique simple et imm\u00e9diate : l'inspection des caract\u00e9ristiques physiques cr\u00e2nio-faciales. La solidit\u00e9 de ces approches est justifi\u00e9e par le grand nombre de diagnostics g\u00e9n\u00e9tiques pertinents et par la confirmation de leur origine g\u00e9n\u00e9tique. Cependant, plusieurs observations sugg\u00e8rent que cette approche atteint ses limites.  li\u00e9es \u00e0 trois facteurs principaux :  \r\n1. \u00e9pid\u00e9miologique, avec un nombre croissant de syndromes rapport\u00e9s par next generation sequencing (NGS), tous rares ; 2. scientifique, avec une variabilit\u00e9 ph\u00e9notypique pour un m\u00eame g\u00e9notype ; 3. acad\u00e9mique, avec le d\u00e9fi de l'enseignement de ces comp\u00e9tences cliniques d\u00e9tenues par peu de sp\u00e9cialistes.\r\n\r\nLa caract\u00e9risation clinique des ph\u00e9notypes \u201ct\u00eate et cou\u201d est donc un enjeu majeur face \u00e0 la question scientifique principale :  une variabilit\u00e9 d\u2019expression majeure. Variabilit\u00e9 entre individus atteints, dans une m\u00eame famille, mais aussi avec l'\u00e2ge chez une m\u00eame personne. \r\nFACE.S-4-KIDS est un projet de base de donn\u00e9es ambitieux abordant la question scientifique de l'expression variable des troubles craniofaciaux, vers une prise en charge clinique optimale (diagnostic, pronostic), et des plans de traitement personnalis\u00e9s.\r\nFACE.S-4-KIDS tire parti de larges cohortes de patients bien caract\u00e9ris\u00e9s et g\u00e9notyp\u00e9s, de services experts en malformations cranio-faciales (m\u00e9dicaux, chirurgicaux, imagerie), ainsi que de laboratoires de sciences fondamentales, en un m\u00eame site. Depuis des ann\u00e9es ils g\u00e9n\u00e8rent des quantit\u00e9s consid\u00e9rables de donn\u00e9es (dossiers patients, imagerie, photographies, g\u00e9nomique, mod\u00e8les animaux et cellulaires).\r\n\r\nFACE.S-4-KIDS a s\u00e9lectionn\u00e9 4 malformations prototypiques, s\u2019exprimant avec des traits cranio-faciaux, et r\u00e9capitulant les diff\u00e9rentes questions ontologiques, embryologiques et anatomiques soulev\u00e9es : \r\n- les craniost\u00e9noses li\u00e9es \u00e0 la signalisation FGFR ( (syndromes de Crouzon, Pfeiffer, Apert et Muenke), \r\n- les achondroplasie \/ hypochondroplasie,\r\n- les ost\u00e9ogen\u00e8se imparfaite,\r\n- les anomalies dentaires, et fentes palatines et s\u00e9quences de Pierre Robin, \r\nchacune soulevant des questions scientifiques sp\u00e9cifiques li\u00e9es \u00e0 la variabilit\u00e9. \r\n \r\nEn r\u00e9unissant l'expertise multidisciplinaire des \u00e9quipes de recherche d'Imagine : Bases mol\u00e9culaires et physiopathologiques de l'ost\u00e9ochondrodysplasie, Embryologie et g\u00e9n\u00e9tique des malformations et Laboratoire de Bioinformatique Clinique avec Data science Plateform, et en associant 8 CRMR, 3 r\u00e9seaux nationaux et  1 ERN, nous visons \u00e0 r\u00e9pondre aux questions fondamentales, collectives mais aussi sp\u00e9cifiques de chaque arch\u00e9type, li\u00e9es \u00e0 l'expression variable : origines des r\u00e9sultats impr\u00e9visibles apr\u00e8s un traitement chirurgical dans les craniost\u00e9noses li\u00e9es aux FGFR, relation entre le ph\u00e9notype et la gravit\u00e9 dans l'achondroplasie, liens entre les ph\u00e9notypes dentaire et osseux dans l'ost\u00e9ogen\u00e8se imparfaite et facteurs pr\u00e9dictifs des r\u00e9sultats fonctionnels et cognitifs dans les fentes palatines ou s\u00e9quences de Robin.","coll_dates":[{"start":"2026-04-08","end":"2028-04-08"}],"nation":[{"name":"France","abbreviation":"fr","extLink":{"vocab":"ISO","vocabURI":"fr"}}],"geog_coverage":"['Ile-de-France']","analysis_unit":"Individus","universe":"{\n    \"level_sex_clusion_I\": [\n        {\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"D005260\"\n            },\n            \"value\": \"F\u00e9minin\"\n        },\n        {\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"D008297\"\n            },\n            \"value\": \"Masculin\"\n        }\n    ],\n    \"level_age_clusion_I\": [\n        {\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"D007231\"\n            },\n            \"value\": \"Nouveau-n\u00e9 ( naissance \u00e0 28j)\"\n        },\n        {\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"D007223\"\n            },\n            \"value\": \"Nourrisson (28j \u00e0 2 ans)\"\n        },\n        {\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"D002675\"\n            },\n            \"value\": \"Petite enfance (2 \u00e0 5 ans)\"\n        },\n        {\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"D002648\"\n            },\n            \"value\": \"Enfance (6 \u00e0 12 ans)\"\n        },\n        {\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"D000293\"\n            },\n            \"value\": \"Adolescence (13 \u00e0 18 ans)\"\n        },\n        {\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"D055815\"\n            },\n            \"value\": \"Adulte (19 \u00e0 24 ans)\"\n        },\n        {\n            \"concept\": {\n                \"vocab\": \"MeSH\",\n                \"vocabURI\": \"D000328\"\n            },\n            \"value\": \"Adulte (25 \u00e0 44 ans)\"\n        }\n    ],\n    \"level_type_clusion_I\": \"Patients\",\n    \"level_type_clusion_other\": \"\",\n    \"clusion_I\": \" 1) Patients souffrant d'une de ces pathologies : craniost\u00e9noses li\u00e9es \u00e0 la signalisation FGFR OU achondroplasie \\\/ hypochondroplasie, OU ost\u00e9ogen\u00e8se imparfaite OU s\u00e9quence de Pierre Robin\\r\\n2) Patients ayant b\u00e9n\u00e9fici\u00e9 ou non d'un s\u00e9quen\u00e7age du g\u00e9nome dans le cadre du soin et ayant (ou titulaires de l'autorit\u00e9 parentale le cas \u00e9ch\u00e9ant) consenti \u00e0 la conservation des reliquats de leurs \u00e9chantillons biologiques dans l'une de ces collections : Chondroplasie et craniost\u00e9nose, Maladies Osseuses Constitutionnelles, Anomalies du D\u00e9veloppement\\r\\n3) Patients ayant b\u00e9n\u00e9fici\u00e9 d'une imagerie craniofaciale (TDM ou IRM) dans le cadre du soin\",\n    \"clusion_E\": \"\"\n}","data_kind":"['Donn\u00e9es cliniques','Donn\u00e9es biologiques','Donn\u00e9es g\u00e9n\u00e9tiques \/ g\u00e9nomiques']","quality_statement":{"standards":[{"name":"['HPO (Human Phenotype Ontology); ATC (Anatomical Therapeutic Chemical Classification System); HGNC (HUGO Gene Nomenclature Commitee)']","committee":"","governance":""}],"other_quality_statement":""}},"study_development":{"development_activity":[{"activity_type":"primary evaluation","activity_description":"Patient ayant un diagnostic confirm\u00e9 de craniost\u00e9nose (li\u00e9 au g\u00e8ne FGFR), ost\u00e9og\u00e9n\u00e8se imparfaite, Achondroplasie\/Hypochondroplasie ou Pierre Robin"},{"activity_type":"secondary evaluation","activity_description":"Patient ayant un analyse g\u00e9notypique r\u00e9alis\u00e9e et de l'imagerie disponible"}]},"method":{"data_collection":{"time_method":"Longitudinale r\u00e9trospective","frequency":"Fr\u00e9quence diff\u00e9rente en fonction de la pathologie du patient parmi le 4 selectonn\u00e9s par FACES4KIDS. 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Lorsque que la mise \u00e0 disposition des donn\u00e9es est accept\u00e9e, l'utilisateur peut acc\u00e9der \u00e0 la bulle s\u00e9curis\u00e9e mise ne place par France Cohortes contenant l'extraction des donn\u00e9es et les logiciels d'analyses.","sources":[{"sourceCitation":{"titlStmt":{"titl":"Consultation de dossiers m\u00e9dicaux patients"},"holdings":"Application ORBIS","notes":{"subject":"source purpose","value":"Enrichissement des donn\u00e9es par croisement (autre que le suivi passif)"}},"srcOrig":["Dossier du patient"]},{"sourceCitation":{"titlStmt":{"titl":"Donn\u00e9es extraites des bases de donn\u00e9es de soins des diff\u00e9rents services hospitalier participant \u00e0 l'\u00e9tude"},"holdings":"Base de donn\u00e9es soins de Necker","notes":{"subject":"source purpose","value":"Ajout d'individus"}},"srcOrig":["Dossier du patient","Base m\u00e9dico-administrative"]}],"target_sample_size":"[1000-10000[ individus","response_rate":"1500"},"method_notes":"Etude observationnelle","study_class":"\u00c9tude en cours","notes":[{"subject":"research type","values":["Etude observationnelle"]},{"subject":"observational study method","values":["Cohorte"]}]},"data_access":{"dataset_availability":{"access_place":"Stockage actuel dans les serveurs de l'Institut Imagine avant migration vers France Cohortes","complete":"","status":"{\"extLink\":{\"title\":\"COAR\",\"uri\":\"http:\/\/purl.org\/coar\/access_right\/c_16ec\"},\"value\":\"Acc\u00e8s r\u00e9serv\u00e9\"}"},"dataset_use":{"restrictions":"","conditions":"Validation par la gouvernance de la cohorte.","conf_dec":[{"txt":""}],"spec_perm":[{"txt":"","required":"Oui"}],"contact":[{"name":"Stanislas;LYONNET","firstname":"Stanislas","lastname":"LYONNET","email":"stanislas.lyonnet@institutimagine.org"},{"name":"Karm\u00e8ne;SOUYRIS","firstname":"Karm\u00e8ne","lastname":"SOUYRIS","email":"karmene.souyris@institutimagine.org"},{"name":"Fatima;MADANI ALAOUI","firstname":"Fatima","lastname":"MADANI ALAOUI","email":"fatima.madani-alaoui@institutimagine.org"}],"deposit_req":"","cit_req":"Obligation de citation: Frances Cohortes,  Institut Imagine"},"notes":""}},"additional":{"IsImport":false,"versionLang":"fr","originLang":"fr","lastUpdatedAuto":"09-07-2026","lastUpdatedManual":"09-07-2026","autoTranslation":false,"status":"Envoy\u00e9e pour publication","respValidation":"","isHealthTheme":true,"isContributorPI":false,"addTeamMember":true,"primaryInvestigator":{"isPIContact":true,"piMail":"stanislas.lyonnet@institutimagine.org","piAffiliation":{"piLabo":"Service de g\u00e9n\u00e9tique m\u00e9dicale - APHP Necker-enfants malades"}},"relatedDocument":[],"contactPointLabo":"","obtainedAuthorization":{"otherAuthorizingAgency":[""]},"regulatoryRequirements":{"conformityDeclaration":"MR-004"},"fundingAgent":{"fundingAgentType":["Public (France)"],"otherFundingAgentType":[""]},"sponsor":{"sponsorType":["Public (France)"],"otherSponsorType":[""]},"governance":{"committee":false},"collaborations":{"networkConsortium":true},"theme":{"complementaryInformation":"","RareDiseases":true},"interventionalStudy":{"researchPurpose":[],"trialPhase":[],"interventionalStudyModel":"","isClinicalTrial":"","otherResearchPurpose":""},"isInclusionGroups":false,"allocation":{"allocationMode":"","allocationUnit":""},"masking":{"maskingType":"","blindedMaskingDetails":[]},"arms":[],"intervention":[{"name":"Anomalie du d\u00e9veloppement cr\u00e2niofacial","type":"G\u00e9n\u00e9tique","typeOther":""}],"cohortLongitudinal":{"recrutementTiming":[]},"otherResearchType":{"otherResearchTypeDetails":""},"inclusionGroups":[],"nrInclusionGroups":false,"collectionProcess":{"collectionModeDetails":"Transfert de donn\u00e9es issus de bases de soin, puis compl\u00e9tion des donn\u00e9es patients par saisie manuelle par les ARCs dans la base de donn\u00e9e REDCap","collectionModeOther":""},"dataCollection":{"inclusionStrategy":[],"inclusionStrategyOther":null,"samplingModeOther":"","recruitmentSourceOther":"","otherDocumentation":""},"activeFollowUp":{"isActiveFollowUp":false,"followUpModeOther":""},"dataCollectionIntegration":{"isDataIntegration":true},"geographicalCoverage":{"geoDetail":""},"dataTypes":{"clinicalDataDetails":"Histoire m\u00e9dicale, ant\u00e9c\u00e9dent familial, Param\u00e8tre de croissance, Ph\u00e9notype, Interventions chirurgicales, Traitements m\u00e9dicaux, Examens, Odontologie","biologicalDataDetails":"Analyses sanguines (ost\u00e9ocalcine, calcium); Analyse urinaire (rapport calcium\/cr\u00e9atinine)","isDataInBiobank":false,"biobankContent":[],"biobankContentOther":"","dataTypeOther":"","paraclinicalDataOther":"","otherLiquidsDetails":""},"variableDictionnary":{"variableDictionnaryAvailable":true,"variableDictionnaryLink":""},"dataQuality":{"otherDocumentation":""},"mockSample":{"mockSampleAvailable":false,"mockSampleLocation":""},"thirdPartySource":{"otherSourceType":["",""]},"fileDscr":{"fileTxt":{"fileCitation":{"titlStmt":{"IDno":[]}}}}},"schematype":"survey"}