{"orpha":459074,"name":"Corpus callosum agenesis-macrocephaly-hypertelorism syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["7q36.3 microduplication syndrome","Dup(7)(q36.3)"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by agenesis of the corpus callosum, borderline or mild intellectual disability, macrocephaly, and dysmorphic facial features (broad forehead, widely spaced eyes). Chiari type I malformation has also been reported in association.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-459074/","orphanet_url":"https://www.orpha.net/en/disease/detail/459074","names":{"fr":{"name":"Syndrome d'agénésie du corps calleux-macrocéphalie-hypertélorisme","synonyms":["Dup(7)(q36.3)","Syndrome de microduplication 7q36.3"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare d'origine génétique, caractérisé par une agénésie du corps calleux, une déficience intellectuelle limite ou légère, une macrocéphalie et une dysmorphie faciale (front proéminent, yeux largement espacés). Une malformation d'Arnold-Chiari type I a également été rapportée en association avec la maladie."},"de":{"name":"Corpus callosum-Agenesie-Makrozephalie-Hypertelorismus-Syndrom","synonyms":["Dup(7)(q36.3)","Mikroduplikationssyndrom 7q36.3"],"definition":"Ein seltenes genetisch bedingtes Syndrom mit multiplen Anomalien/Dysmorphien, das durch eine Agenesie des Corpus callosum, grenzwertige oder leichte Intelligenzminderung, Makrozephalie und Gesichtsdysmorphien (breite Stirn, weit auseinander liegende Augen) gekennzeichnet ist. Es wurde auch über eine Chiari-Typ-I-Fehlbildung in Verbindung mit diesem Syndrom berichtet."},"es":{"name":"Síndrome de agenesia del cuerpo calloso-macrocefalia-hipertelorismo","synonyms":["Dup(7)(q36.3)","Síndrome de microduplicación 7q36.3"],"definition":"Es un síndrome dismórfico/ de múltiples anomalías congénitas de base genética y poco frecuente caracterizado por agenesia del cuerpo calloso, discapacidad intelectual límite o leve, macrocefalia y rasgos faciales dismórficos (frente ancha, ojos muy separados). También se ha descrito la asociación con la malformación de Chiari tipo I."},"it":{"name":"Sindrome agenesia del corpo calloso - macrocefalia - ipertelorismo","definition":"Si tratta di una malattia genetica rara da anomalie/dismorfismi congeniti multipli, caratterizzata da agenesia del corpo calloso, disabilità intellettiva borderline-lieve, macrocefalia e dismorfismi facciali (fronte ampia, occhi iperdistanziati). Può associarsi alla malformazione di Chiari tipo I."},"nl":{"name":"Agenesie van corpus callosum - macrocefalie - hypertelorisme-syndroom","synonyms":["7q36.3-microduplicatiesyndroom","Dup(7)(q36.3)"],"definition":"Een zeldzaam, genetisch meervoudige congenitale anomalieën/dysmorfie-syndroom, gekarakteriseerd door agenesie van corpus callosum, marginale of milde intellectuele achterstand, macrocefalie, en dysmorfe gelaatskenmerken (breed voorhoofd, ver uit elkaar staande ogen). Associatie met Chiari-malformatie type I werd ook reeds gerapporteerd."},"pt":{"name":"Síndrome de agenesia do corpo caloso-macrocefalia-hipertelorismo"},"pl":{"name":"Zespół agenezji ciała modzelowatego, wielkogłowia i hiperteloryzmu","synonyms":["Dup(7)(q36.3)","Zespół mikroduplikacji 7q36.3"]},"cs":{"name":"Syndrom zahrnující agenezi corpus callosum, makrocefalii a hypertelorismus","synonyms":["Mikroduplikační syndrom 7q36.3"]},"uk":{"name":"Синдром агенезії мозолистого тіла-макроцефалії-гіпертелоризму","synonyms":["Синдром мікродуплікації 7q36.3","Dup(7)(q36.3)"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by agenesis of the corpus callosum, borderline or mild intellectual disability, macrocephaly, and dysmorphic facial features (broad forehead, widely spaced eyes). Chiari type I malformation has also been reported in association."},"zh":{"name":"胼胝体发育不良-巨颅畸形-器官间距过远综合征","synonyms":["7q36.3微重复综合征"]},"tr":{"name":"Korpus kallozum agenezi-makrosefali-hipertelorizm sendromu","synonyms":["Dup(7)(q36.3)","7q36.3 mikroduplikasyon sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q04.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018725","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679998","qualifier":"E","icd_relation":null,"validated":true}],"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":269573,"name":"Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":199639,"name":"Syndrome with corpus callosum agenesis/dysgenesis as a major feature","classifications":[147,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"25944787[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25944787[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-01-02","source":"25944787[PMID]","terms":[{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007099","label":"Chiari type I malformation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001357","label":"Plagiocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002197","label":"Generalized-onset seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006889","label":"Intellectual disability, borderline","frequency":"Occasional (29-5%)","criteria":null}]}}