{"orpha":697356,"name":"Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["FOSL2-related neurodevelopmental disorder"],"definition":"A rare multiple congenital anomalies/dysmorphic syndrome characterized by congenital aplasia cutis of variable size along the midline of the scalp, tooth enamel hypoplasia and discoloration, and delayed psychomotor development or intellectual disability. Additional clinical features may include intrauterine or postnatal growth retardation, autism spectrum disorder, congenital cataracts, skull defects and seizures.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-697356/","orphanet_url":"https://www.orpha.net/en/disease/detail/697356","names":{"fr":{"name":"Syndrome d'aplasie cutanée congénitale du cuir chevelu-hypoplasie de l'émail-retard de développement-déficience intellectuelle","synonyms":["Trouble du neurodéveloppement associé à FOSL2"],"definition":"Anomalies congénitales multiples/ syndrome dysmorphique caractérisé par une aplasie cutanée congénitale d'étendue variable le long de la ligne médiane du cuir chevelu, une hypoplasie et une décoloration de l'émail dentaire, ainsi qu'un retard de développement psychomoteur ou une déficience intellectuelle. D'autres signes cliniques peuvent inclure un retard de croissance intra-utérin ou postnatal, un trouble du spectre de l'autisme, une cataracte congénitale, des anomalies crâniennes et des crises convulsives."},"de":{"name":"Kongenitale Aplasie der Kopfhaut-Zahnschmelzhypoplasie-Entwicklungsverzögerung-Intelligenzminderung-Syndrom","synonyms":["ACED","Aplasia cutis congenita-Zahnschmelzhypoplasie-Syndrom","Neurologische Entwicklungsstörung, FOSL2-assoziierte"]},"es":{"name":"Síndrome de aplasia cutis congénita del cuero cabelludo-hipoplasia del esmalte-retraso del desarrollo-discapacidad intelectual","synonyms":["Trastorno del neurodesarrollo asociado a FOSL2"]},"it":{"name":"Sindrome aplasia congenita della cute del cuoio capelluto-ipoplasia dello smalto-ritardo dello sviluppo-disabilità intellettiva","synonyms":["Malattia del neurosviluppo correlata a FOSL2"]},"nl":{"name":"Congenitale aplasia cutis van scalp - hypoplasie van tandglazuur - ontwikkelingsachterstand - intellectuele achterstand-syndroom","synonyms":["FOSL2-gerelateerde neurologische ontwikkelingsstroonis"]},"pt":{"name":"Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome"},"pl":{"name":"Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome","synonyms":["FOSL2-related neurodevelopmental disorder"]},"cs":{"name":"Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome","synonyms":["FOSL2-related neurodevelopmental disorder"]}},"xrefs":[{"source":"OMIM","code":"620789","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":false},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"attributed","validated":false}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":139042,"name":"Malformation syndrome with odontal and/or periodontal component","classifications":[147,197]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":79359,"name":"Other epidermal disorder","classifications":[187]},{"orpha":139027,"name":"Rare developmental defect with skin/mucosae involvement","classifications":[147,156]}],"children":[],"genes":[{"symbol":"FOSL2","name":"FOS like 2, AP-1 transcription factor subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"36197437[PMID]","hgnc":"3798","ensembl":"ENSG00000075426","omim":"601575","loci":["2p23.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":11.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}