{"orpha":314597,"name":"Chudley-McCullough syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Chudley-McCullough syndrome is a rare, genetic, syndromic deafness characterized by severe to profound, bilateral, sensorineural hearing loss (congenital or rapidly progressive in infancy) associated with a complex brain malformation including hydrocephalus, varying degrees of partial corpus callosum agenesis, colpocephaly, cerebral and cerebellar cortical dysplasia (bilateral medial frontal polymicrogyria, bilateral frontal subcortical heteropia) and, in some, arachnoid cysts. Major physical abnormalities or psychomotor delay are usually not associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-314597/","orphanet_url":"https://www.orpha.net/en/disease/detail/314597","names":{"fr":{"name":"Syndrome de Chudley-McCullough","definition":"Surdité génétique syndromique rare caractérisée par une perte auditive neurosensorielle bilatérale sévère à profonde (congénitale ou rapidement progressive pendant la petite enfance) associée à une malformation cérébrale complexe, à type d'hydrocéphalie, d'agénésie partielle du corps calleux de degré variable, de colpocéphalie, de dysplasie cérébrale et cortico-cérébrale (polymicrogyrie frontale médiale bilatérale, hétéropie sous-corticale frontale bilatérale) et, dans certains cas, de kystes arachnoïdiens. Des anomalies physiques majeures ou un retard psychomoteur ne sont généralement pas associés."},"de":{"name":"Chudley-McCullough-Syndrom"},"es":{"name":"Síndrome de Chudley-McCullough","definition":"El síndrome de Chudley-McCullough es una sordera sindrómica, genética y poco frecuente, caracterizada por una pérdida auditiva neurosensorial bilateral de grave a profunda (congénita o rápidamente progresiva en la infancia), asociada a una malformación cerebral compleja que incluye hidrocefalia, diversos grados de agenesia parcial del cuerpo calloso, colpocefalia, displasia cortical cerebral y cerebelosa (polimicrogiria bilateral frontal medial, heterotopia subcortical frontal bilateral) y, en algunos casos, quistes aracnoideos. No suelen tener asociadas anomalías físicas importantes ni retraso psicomotor."},"it":{"name":"Sindrome di Chudley-McCullough","definition":"La sindrome di Chudley-McCullough è una sordità sindromica genetica rara, caratterizzata da sordità neurosensoriale grave o profonda bilaterale (congenita o a progressione rapida nella prima infanzia), associata ad una malformazione cerebrale complessa, che comprende l'idrocefalo, l'agenesia parziale del corpo calloso di grado variabile, la colpocefalia, la displasia corticale cerebrale e cerebellare (polimicrogiria frontale mediana bilaterale, eterotopia sottocorticale frontale bilaterale) e, in alcuni pazienti, le cisti aracnoidee. Di solito non si associa a gravi anomalie fisiche o a ritardo psicomotorio."},"nl":{"name":"Syndroom van Chudley-McCullough","definition":"Syndroom van Chudley-McCullough is een zeldzame, genetische, syndromale doofheid die wordt gekarakteriseerd door ernstig tot volledig, bilateraal, sensorineuraal gehoorverlies (congenitaal of snel progressief in de zuigelingentijd), geassocieerd met een complexe malformatie van de hersenen waaronder hydrocefalie, variabele gradaties van partiële agenesie van het corpus callosum, colpocefalie, cerebrale en cerebellaire corticale dysplasie (bilaterale mediale frontale polymicrogyrie, bilaterale frontale subcorticale heterotopie) en, bij sommigen, arachnoidale cysten. Grote fysieke afwijkingen of psychomotorische achterstand zijn meestal niet geassocieerd."},"pt":{"name":"Síndrome de Chudley-McCullough"},"pl":{"name":"Zespół Chudley'a i McCullougha","definition":"*Zespół Chudley'a i McCullougha jest rzadkim, genetycznie uwarunkowanym niedosłuchem syndromicznym, który charakteryzuje się ciężkim, lub głębokim obustronnym niedosłuchem zmysłowo-nerwowym (wrodzonym lub szybko postępującym w okresie niemowlęcym), związanym ze złożoną wadą mózgu, na którą składa się wodogłowie, różnego stopnia agenezja ciała modzelowatego, kolpocefalia (poszerzenie rogów komór bocznych), dysplazja kory mózgowej i móżdżku (obustronna polimikrogyria czołowa przyśrodkowa, obustronna heteropia czołowa podkorowa) oraz, w niektórych przypadkach, torbiele pajęczynówki. Zwykle nie występują poważne nieprawidłowości fizyczne lub opóźnienie psychoruchowe.inf brsup inf brsup"},"cs":{"name":"Chudleyho-McCulloughových syndrom","synonyms":["Chudley-McCulloughových syndrom"]},"uk":{"name":"Синдром Чадлі-Маккаллафа","definition":"Chudley-McCullough syndrome is a rare, genetic, syndromic deafness characterized by severe to profound, bilateral, sensorineural hearing loss (congenital or rapidly progressive in infancy) associated with a complex brain malformation including hydrocephalus, varying degrees of partial corpus callosum agenesis, colpocephaly, cerebral and cerebellar cortical dysplasia (bilateral medial frontal polymicrogyria, bilateral frontal subcortical heteropia) and, in some, arachnoid cysts. Major physical abnormalities or psychomotor delay are usually not associated."},"zh":{"name":"Chudley-McCullough综合征","definition":"Chudley-McCullough综合征是一种罕见的遗传性综合征性耳聋，其特征是重度至极重度的双侧感音神经性听力损失（婴儿期先天性或快速进行性），伴有复杂的脑畸形，包括脑积水、不同程度的部分胼胝体发育不全、空洞脑、脑和小脑畸形皮质发育不良（双侧内侧额叶多脑回，双侧额叶皮质下异位）和某些蛛网膜囊肿。不伴有主要生理异常或精神运动迟缓。"},"tr":{"name":"Chudley-McCullough sendromu"}},"xrefs":[{"source":"OMIM","code":"604213","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0011411","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535459","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1858695","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"86","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":269567,"name":"Genetic syndrome with a cerebellar malformation as a major feature","classifications":[156]},{"orpha":269531,"name":"Other syndrome with a central nervous system malformation as a major feature","classifications":[147,181]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":269523,"name":"Syndrome with a cerebellar malformation as a major feature","classifications":[147,181]}],"children":[],"genes":[{"symbol":"GPSM2","name":"G protein signaling modulator 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22578326[PMID]","hgnc":"29501","ensembl":"ENSG00000121957","omim":"609245","loci":["1p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":25.0,"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":{"validation_status":"y","online":"y","validation_date":"2026-01-07","source":"27312216[PMID]_21127420[PMID]_17962956[PMID]","terms":[{"hpo":"HP:0008527","label":"Congenital sensorineural hearing impairment","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0030048","label":"Colpocephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001338","label":"Partial agenesis of the corpus callosum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011476","label":"Profound sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100702","label":"Arachnoid cyst","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002539","label":"Cortical dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002126","label":"Polymicrogyria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007033","label":"Cerebellar dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002282","label":"Gray matter heterotopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:6000989","label":"Slit-like lateral ventricle","frequency":"Occasional (29-5%)","criteria":null}]}}