{"orpha":495875,"name":"Cerebello-oculo-facio-genital syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome","COFG syndrome","Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, absent scrotum or labia majora, absent or underdeveloped nipples and a tuft of hair extruding from the lactiferous ducts, bilateral corneal opacities, and dysmorphic craniofacial features (microcephaly, short forehead, and ear abnormalities, among others). Patients also show horizontal nystagmus and ataxic gait. Brain MRI reveals small cerebellar hemispheres and vermis and a small pons.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-495875/","orphanet_url":"https://www.orpha.net/en/disease/detail/495875","names":{"fr":{"name":"Syndrome cérébello-oculo-facio-génital","synonyms":["Syndrome d'agénésie congénitale du scrotum ou grandes lèvres-malformation cérébelleuse-dystrophie cornéenne-dysmorphie faciale","Syndrome COFG"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare d'origine génétique caractérisé par un retard global de développement, une déficience intellectuelle, une absence de scrotum ou de grandes lèvres, une absence ou un sous-développement des mamelons et une touffe de poils sortant des canaux galactophores, des opacités cornéennes bilatérales et une dysmorphie craniofaciale (microcéphalie, petit front et malformations des oreilles, entre autres). Les patients présentent également un nystagmus horizontal et une démarche ataxique. L'IRM cérébrale révèle des hémisphères cérébelleux et un vermis de petite taille, ainsi qu'un petit pont de Varole."},"de":{"name":"Zerebro-okulo-fazio-genitales Syndrom","synonyms":["COFG-Syndrom","Kongenitale labioskrotale Agenesie-zerebelläre Fehlbildung-Hornhautdystrophie-Gesichtsdysmorphie-Syndrom","Kongenitale Agenesie der Labia majora oder des Scrotums-zerebelläre Fehlbildung-Hornhautdystrophie-Gesichtsdysmorphie-Syndrom"],"definition":"Ein seltenes genetisch bedingtes Syndrom mit multiplen kongenitalen Anomalien/Dysmorphien, das durch eine globale Entwicklungsverzögerung, eine intellektuelle Beeinträchtigung, ein fehlendes Skrotum oder fehlende große Schamlippen, fehlende oder unterentwickelte Brustwarzen und ein aus den Milchgängen austretendes Haarbüschel, bilaterale Hornhauttrübungen und dysmorphe kraniofaziale Merkmale (u. a. Mikrozephalie, kurze Stirn und Ohranomalien) gekennzeichnet ist. Die Patienten zeigen auch horizontalen Nystagmus und ataktischen Gang. Die MRT des Gehirns zeigte eine generalisierte Kleinhirnhypoplasie einschließlich des Vermis und Pons."},"es":{"name":"Síndrome cerebelo-óculo-facio-genital","synonyms":["Síndrome COFG","Síndrome congénito de agenesia labioescrotal-malformación cerebelosa-distrofia corneal-dismorfia facial","Síndrome congénito de agenesia de labios mayores o escroto-malformación cerebelosa-distrofia corneal-dismorfia facial"],"definition":"Es un síndrome dismórfico/con anomalías congénitas múltiples, de origen genético y poco frecuente, caracterizado por retraso global del desarrollo, discapacidad intelectual, ausencia de escroto o labios mayores, ausencia o hipoplasia de los pezones y un mechón de pelo con origen en los conductos galactóforos, opacidades corneales bilaterales y rasgos craneofaciales dismórficos (microcefalia, frente estrecha y anomalías del pabellón auricular, entre otros). Los pacientes también muestran nistagmo horizontal y marcha atáxica. La RM cerebral revela hemisferios cerebelosos y vermis pequeños, así como un puente de Varolio de tamaño reducido."},"it":{"name":"Sindrome cerebellare-oculo-facio-genitale","synonyms":["Sindrome agenesia labioscrotale congenita - malformazioni cerebellari - distrofia della cornea - dismorfismi faciali","Sindrome COFG","Sindrome agenesia congenita delle grandi labbra o dello scroto-malformazione cerebellare-distrofia corneale-dismorfismi facciali"],"definition":"Si tratta di una malattia genetica rara da anomalie/dismorfismi congeniti multipli, caratterizzata da ritardo dello sviluppo globale, disabilità intellettiva, agenesia dello scroto o delle grandi labbra, agenesia o ipoplasia dei capezzoli, in presenza di un ciuffo di peli che fuoriesce dai dotti lattiferi, opacità corneali bilaterali e dismorfismi craniofacciali (microcefalia, fronte piccola e anomalie delle orecchie). I pazienti presentano inoltre nistagmo orizzontale e andatura atassica. La RMN cerebrale evidenzia una ipoplasia degli emisferi cerebellari, del verme e del ponte."},"nl":{"name":"Cerebello-oculofaciogenitaal syndroom","synonyms":["COFG-syndroom","Congenitaal agenesie van labia majora of scrotum - cerebellaire malformatie - corneadystrofie - faciale dysmorfie-syndroom","Congenitaal labioscrotale agenesie - malformatie van cerebellum - corneadystrofie - faciale dysmorfie-syndroom"],"definition":"Een zeldzaam, genetisch syndroom met multipele congenitale anomalieën/dysmorfie, gekarakteriseerd door algehele ontwikkelingsachterstand, intellectuele achterstand, afwezigheid van scrotum of labia majora, afwezige of onderontwikkelde tepels en een pluk haar die uitpuilt uit melkgangen, bilaterale hoornvliestroebeling, en dysmorfe craniofaciale kenmerken (onder meer microcefalie, kort voorhoofd, en ooranomalieën). Patiënten vertonen ook horizontale nystagmus en ataxische gang. MRI van hersenen toont kleine cerebellaire hemisferen, vermis en pons."},"pt":{"name":"Síndrome de agenesia labioescrotal congénita-malformação cerebelosa-distrofia córnea-dismorfia facial","synonyms":["Síndrome de agenesia dos grandes lábios ou escroto congénita-malformação cerebelosa-distrofia córnea-dismorfia facial"]},"pl":{"name":"Zespół wrodzonej agenezji fałdu wargowomosznowego-malformacji móżdżku-dystrofii rogówki-dysmorfii twarzy","synonyms":["Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome","COFG syndrome","Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome"]},"cs":{"name":"Syndrom zahrnující labioskrotální agenezi, malformace mozečku, korneální dystrofii a faciální dysmorfismus","synonyms":["Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome","Syndrom zahrnující vrozenou agenezi velkých stydkých pysků nebo šourku, mozečkovou malformaci, rohovkovou dystrofii a obličejový dysmorfismus"]},"uk":{"name":"Синдром вродженої лабіоскротальної агенезії-мальформації мозочка-дистрофії рогівки- дизморфізму обличчя","synonyms":["Синдром вродженого агенезу великих статевих губ або мошонки - мозочкової мальформації - дистрофії рогівки - дизморфізму обличчя"],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, absent scrotum or labia majora, absent or underdeveloped nipples and a tuft of hair extruding from the lactiferous ducts, bilateral corneal opacities, and dysmorphic craniofacial features (microcephaly, short forehead, and ear abnormalities, among others). Patients also show horizontal nystagmus and ataxic gait. Brain MRI reveals small cerebellar hemispheres and vermis and a small pons."},"zh":{"name":"先天性阴囊发育不全-小脑畸形-角膜营养不良-面部畸形综合征","synonyms":["先天性大阴唇或阴囊发育不全-小脑畸形-角膜营养不良-面部畸形综合征"]},"tr":{"name":"Doğumsal labioskrotal agenezis-serebellar malformasyon-korneal distrofi-fasiyal dismorfizm sendromu","synonyms":["Doğumsal agenezis labia majora veya skrotum-serebellar malformasyon-korneal distrofi-fasiyal dismorfizm sendromu"]}},"xrefs":[{"source":"OMIM","code":"618479","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0044643","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5567455","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":269567,"name":"Genetic syndrome with a cerebellar malformation as a major feature","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":269523,"name":"Syndrome with a cerebellar malformation as a major feature","classifications":[147,181]},{"orpha":98628,"name":"Syndromic corneal dystrophy","classifications":[156,189]},{"orpha":165707,"name":"Syndromic urogenital tract malformation","classifications":[147,156,185]}],"children":[],"genes":[{"symbol":"MAB21L1","name":"mab-21 like 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30487245[PMID]","hgnc":"6757","ensembl":"ENSG00000180660","omim":"601280","loci":["13q13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"27075597[PMID]_27103078[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27075597[PMID]_27103078[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-01-15","source":"27103078[PMID]_30487245[PMID]","terms":[{"hpo":"HP:0008729","label":"Absence of labia majora","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008707","label":"Absent scrotum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011229","label":"Broad eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001131","label":"Corneal dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000666","label":"Horizontal nystagmus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000294","label":"Low anterior hairline","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000350","label":"Small forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0045075","label":"Sparse eyebrow","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002136","label":"Broad-based gait","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000557","label":"Buphthalmos","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001320","label":"Cerebellar vermis hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001305","label":"Dandy-Walker malformation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001007","label":"Hirsutism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012110","label":"Hypoplasia of the pons","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001097","label":"Keratoconjunctivitis sicca","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011343","label":"Moderate global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002465","label":"Poor speech","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002172","label":"Postural instability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011825","label":"Tented philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001545","label":"Anteriorly placed anus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000455","label":"Broad nasal tip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040171","label":"Decreased serum testosterone concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000064","label":"Hypoplastic labia minora","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000527","label":"Long eyelashes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000609","label":"Optic nerve hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000107","label":"Renal cyst","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002000","label":"Short columella","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001350","label":"Slurred speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025405","label":"Visual fixation instability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006610","label":"Wide intermamillary distance","frequency":"Occasional (29-5%)","criteria":null}]}}