{"orpha":1538,"name":"Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Braddock-Jones-Superneau syndrome"],"definition":"A rare malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1538/","orphanet_url":"https://www.orpha.net/en/disease/detail/1538","names":{"fr":{"name":"Syndrome de craniosynostose-malformation de Dandy-Walker-hydrocéphalie","synonyms":["Syndrome de Braddock-Jones-Superneau"],"definition":"Un trouble malformatif caractérisé par une craniosynostose sagittale, une malformation de Dandy-Walker, une hydrocéphalie, une dysmorphie craniofaciale (incluant une dolichocéphalie, un hypertélorisme, une micrognathie, une malposition de l'oreille) et un retard du développement variable. Le mode de transmissions semble être autosomique dominant."},"de":{"name":"Kraniosynostose-Dandy-Walker-Fehlbildung-Hydrozephalus-Syndrom","synonyms":["Braddock-Jones-Superneau-Syndrom"],"definition":"Eine seltene Fehlbildung, die durch sagittale Kraniosynostose, Dandy-Walker-Syndrom, Hydrozephalus, kraniofaziale Dysmorphien (einschließlich Dolichozephalie, Hypertelorismus, Mikrogenie, Fehlbildung der Ohrstellung) und unterschiedliche Entwicklungsverzögerungen gekennzeichnet ist."},"es":{"name":"Síndrome de craneosinostosis-malformación de Dandy-Walker-hidrocefalia","synonyms":["Síndrome de Braddock-Jones-Superneau"],"definition":"Es un trastorno de malformación poco frecuente caracterizado por craneosinostosis sagital, malformación de Dandy-Walker, hidrocefalia, dismorfia craneofacial (incluyendo dolicocefalia, hipertelorismo, micrognatia, deformidad posicional del oído) y retraso variable del desarrollo."},"it":{"name":"Craniosinostosi - malformazione di Dandy-Walker - idrocefalo","synonyms":["Sindrome di Braddock-Jones-Superneau"]},"nl":{"name":"Craniosynostose - Dandy-Walker malformatie - hydrocefalus-syndroom","synonyms":["Syndroom van Braddock-Jones-Superneau"],"definition":"Een zeldzame malformatie, gekenmerkt door sagittale craniosynostose, Dandy-Walker malformatie, hydrocefalie, craniofaciale dysmorfie (met onder meer dolichocefalie, hypertelorisme, micrognathie, positionele afwijkingen van oor), en variabele ontwikkelingsachterstand."},"pt":{"name":"Síndrome de craniossinostose-malformação de Dandy-Walker-hidrocefalia","synonyms":["Síndrome Braddock-Jones-Superneau"]},"pl":{"name":"Kraniosynostoza - malformacja Dandy'ego i Walkera - wodogłowie","synonyms":["Zespół Braddocka, Jonesa i Superneau"],"definition":"Rzadka wada rozwojowa charakteryzująca się kraniosynostozą strzałkową, malformacją Dandy'ego-Walkera, wodogłowiem, dysmorfią twarzoczaszki (w tym dolichocefalią, hiperteloryzmem, mikrognacją, deformacją ułożenia ucha) i zmiennym opóźnieniem rozwoju."},"cs":{"name":"Syndrom zahrnující kraniosynostózu, Dandyho-Walkerovu malformaci a hydrocefalus","synonyms":["Braddockův-Jonesův-Supernauův syndrom","Syndrom zahrnující kraniosynostózu, Dandy-Walkerovu malformaci a hydrocefalus","Braddock-Jones-Supernauův syndrom"]},"uk":{"name":"Синдром краніосиностозу - мальформації Денді-Уокера - гідроцефалії","synonyms":["Синдром Бреддока-Джонса-Суперно"],"definition":"A rare malformation disorder characterized by sagittal craniosynostosis, Dandy-Walker malformation, hydrocephalus, craniofacial dysmorphism (including dolichocephaly, hypertelorism, micrognathia, positional ear deformity) and variable developmental delay."},"zh":{"name":"颅骨早闭-丹迪-沃克畸形-脑积水综合征","synonyms":["Braddock-Jones-Superneau综合征"]},"tr":{"name":"Kraniyosinostoz-Dandy-Walker malformasyonu-hidrosefali sendromu","synonyms":["Braddock-Jones-Superneau sendromu"]}},"xrefs":[{"source":"OMIM","code":"123155","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q03.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"572762574"},{"source":"MONDO","code":"0007401","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4304196","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"998","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":169163,"name":"Familial scaphocephaly syndrome","classifications":[147,156,199]},{"orpha":269570,"name":"Genetic syndrome with a Dandy-Walker malformation as a major feature","classifications":[156]},{"orpha":269546,"name":"Syndrome with a Dandy-Walker malformation as a major feature","classifications":[147,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001305","label":"Dandy-Walker malformation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005472","label":"Orbital craniosynostosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null}]}}