{"orpha":1568,"name":"X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Pettigrew Syndrome","AP1S2-related neurodevelopmental disorder","AP1S2-related X-linked intellectual disability"],"definition":"A rare central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1568/","orphanet_url":"https://www.orpha.net/en/disease/detail/1568","names":{"fr":{"name":"Syndrome de déficience intellectuelle liée à l'X-malformation de Dandy-Walker-anomalies des noyaux gris centraux-convulsions","synonyms":["Syndrome de Pettigrew","Syndrome de déficience intellectuelle liée à l'X-malformation de Dandy-Walker-anomalies des ganglions de la base-convulsions","Trouble du neurodéveloppement associé à AP1S2","Syndrome de déficience intellectuelle liée à l'X associé à AP1S2"],"definition":"Malformation du système nerveux central caractérisée par une déficience intellectuelle sévère, une hypotonie précoce progressant vers une spasticité et des contractures, une choréoathétose, des convulsions, une dysmorphie faciale (visage allongé avec un front proéminent), des anomalies à l'imagerie cérébrale telles qu'une malformation de Dandy-Walker, et un dépôt de fer."},"de":{"name":"X-chromosomale Intelligenzminderung-Dandy-Walker-Fehlbildung-Basalganglienkrankheit-Krämpfe-Syndrom","synonyms":["X-chromosomale Intelligenzminderung, AP1S2-assoziierte","Pettigrew-Syndrom","AP1S2-assoziierte neurologische Entwicklungsstörung"],"definition":"Eine seltene Fehlbildung des zentralen Nervensystems, die durch schweres intellektuelles Defizit, frühe Hypotonie mit Fortschreiten zu Spastik und Kontrakturen, Choreoathetose, Krampfanfälle, dysmorphes Gesicht (langes Gesicht mit prominenter Stirn) und Anomalien in der Bildgebung des Gehirns wie zystische Erweiterung des vierten Ventrikels mit Kleinhirnhypoplasie (Dandy-Walker-Malformation) und Eisenspeicherung in den Basalganglien mit neuroaxonaler Dystrophie."},"es":{"name":"Síndrome de discapacidad intelectual-malformación de Dandy-Walker-enfermedad de los ganglios basales-crisis ligado al cromosoma X","synonyms":["Síndrome de Pettigrew","Discapacidad intelectual asociada al gen AP1S2"],"definition":"Es una malformación poco frecuente del sistema nervioso central caracterizada por déficit intelectual grave, hipotonía precoz con progresión a espasticidad y contracturas, coreoatetosis, crisis epilépticas, dismorfia facial (cara alargada con frente prominente) y anomalías en la neuroimagen como la malformación de Dandy-Walker y deposición de hierro."},"it":{"name":"Sindrome disabilità cognitiva legata all'X-malformazione di Dandy-Walker-malattia dei gangli della base-epilessia","synonyms":["Disabilità intellettiva legata all'X correlata ad AP1S2","Sindrome di Pettigrew","Malattia del neurosviluppo correlata ad AP1S2"]},"nl":{"name":"X-gebonden intellectuele achterstand - Dandy-Walker malformatie - aandoening van basale ganglia - insulten-syndroom","synonyms":["AP1S2-gerelateerde neurologische ontwikkelingsstoornis","AP1S2-gerelateerde X-gebonden intellectuele achterstand","Syndroom van Pettigrew"],"definition":"Een zeldzame malformatie van centraal zenuwstelsel, gekenmerkt door ernstige intellectuele achterstand, vroege hypotonie met progressie naar spasticiteit en contracturen, choreoathetose, insulten, dysmorf gelaat (lang aangezicht met prominent voorhoofd), en afwijkingen bij beeldvorming van hersenen zoals Dandy-Walker malformatie en depositie van ijzer."},"pt":{"name":"Síndrome de perturbação do desenvolvimento intelectual-malformação Dandy-Walker-doença dos gânglios basais-convulsões ligada ao X","synonyms":["Síndrome Pettigrew"]},"pl":{"name":"Niepełnosprawność intelektualna sprzężona z chromosomem X - malformacja Dandy'ego i Walkera - choroba zwojów podstawnych - napady padaczkowe","synonyms":["Sprzęzony z chromosomem X zespół niepełnosprawności intelektualnej, malformacji Dandy-Walkera, choroby zwojów podstawy mózgu oraz drgawek"],"definition":"Rzadka wada rozwojowa ośrodkowego układu nerwowego charakteryzująca się ciężką niepełnosprawnością intelektualną, hipotonią o wczesnym początku z postępującą spastycznością i przykurczami, choreoatetozą, drgawkami, dysmorfią twarzy (wydłużona twarz z wydatnym czołem) i nieprawidłowościami w badaniu obrazowym mózgu, takimi jak malformacja Dandy'ego-Walkera i odkładanie się żelaza."},"cs":{"name":"Syndrom zahrnující X-vázanou mentální retardaci, Dandyho-Walkerovu malformaci, postižení bazálních ganglií a záchvaty","synonyms":["Syndrom zahrnující X-vázanou mentální retardaci, Dandy-Walkerovu malformaci, postižení bazálních ganglií a záchvaty"]},"uk":{"name":"Х-зчеплена розумова відсталість - вада розвитку Денді-Уокера - хвороба базальних гангліїв - судомний синдром","synonyms":["Синдром Петтігрю"],"definition":"A rare central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation, and iron deposition."},"zh":{"name":"X连锁智力障碍-Dandy-Walker畸形-基底神经节疾病-癫痫发作综合征"},"tr":{"name":"X'e bağlı zihinsel yetersizlik-Dandy-Walker malformasyonu-bazal ganglion hastalığı-nöbet sendromu"}},"xrefs":[{"source":"OMIM","code":"304340","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD90","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"10574","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535773","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796254","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8520","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":269570,"name":"Genetic syndrome with a Dandy-Walker malformation as a major feature","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":269546,"name":"Syndrome with a Dandy-Walker malformation as a major feature","classifications":[147,181]},{"orpha":98683,"name":"Syndromic disorder with strabismus","classifications":[189]},{"orpha":522520,"name":"Syndromic genetic disorder with strabismus","classifications":[156]}],"children":[],"genes":[{"symbol":"AP1S2","name":"adaptor related protein complex 1 subunit sigma 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23756445[PMID]","hgnc":"560","ensembl":"ENSG00000182287","omim":"300629","loci":["Xp22.2"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"23756445[PMID]_23756445[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0007360","label":"Aplasia/Hypoplasia of the cerebellum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Very frequent (99-80%)","criteria":null}]}}