{"orpha":2508,"name":"Corpus callosum agenesis-abnormal genitalia syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["ACC-abnormal genitalia syndrome","Microcephaly-corpus callosum agenesis-abnormal genitalia syndrome","Proud syndrome","Proud-Levine-Carpenter syndrome"],"definition":"Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (prominent supraorbital ridges, synophris, large eyes) and optic atrophy have been observed.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2508/","orphanet_url":"https://www.orpha.net/en/disease/detail/2508","names":{"fr":{"name":"Syndrome d'agénésie du corps calleux-anomalies génitales","synonyms":["Syndrome d'ACC-anomalies génitales","Syndrome de Proud","Syndrome de Proud-Levine-Carpenter","Syndrome de microcéphalie-agénésie du corps calleux-anomalies génitales"],"definition":"Le syndrome d'agénésie du corps calleux-anomalies génitales est une anomalie génétique rare du développement au cours de l'embryogenèse caractérisée par une agénésie du corps calleux, des signes neurologiques légers à sévères (déficit intellectuel, retard de développement, épilepsie, dystonie) et des anomalies urogénitales (hypospadias, cryptorchidie, dysplasie rénale, organes génitaux ambigus). Des anomalies additionnelles squelettiques (contractures des membres, scoliose), une dysmorphie faciale (arcade sourcilière proéminente, synophrys, yeux larges) et une atrophie optique ont été observées."},"de":{"name":"Corpus callosum-Agenesie-Genitalfehlbildung-Syndrom","synonyms":["ACC-Genitalfehlbildung-Syndrom","Mikrozephalie-Corpus callosum-Agenesie-Genitalfehlbildung-Syndrom","Proud-Levine-Carpenter-Syndrom","Proud-Syndrom"],"definition":"Ein seltener, genetischer Entwicklungsdefekt während der Embryogenese, der durch eine Agenesie des Corpus callosum, leichte bis schwere neurologische Manifestationen (Intelligenzminderung, Entwicklungsverzögerung, Epilepsie, Dystonie) und urogenitale Anomalien (Hypospadie, Kryptorchismus, Nierendysplasie, uneindeutige Genitalien) gekennzeichnet ist. Außerdem wurden Skelettanomalien (Gliedmaßenkontrakturen, Skoliose), dysmorphe Gesichtszüge (prominente supraorbitale Grate, Synophris, große Augen) und Optikusatrophie beobachtet."},"es":{"name":"Síndrome de agenesia del cuerpo calloso-anomalías genitales","synonyms":["Síndrome de ACC-anomalías genitales","Síndrome de Proud","Síndrome de Proud-Levine-Carpenter","Síndrome de microencefalia-agenesia del cuerpo calloso-anomalías genitales"],"definition":"El síndrome de agenesia del cuerpo calloso con anomalías genitales es un defecto genético del desarrollo muy poco frecuente que ocurre durante la embriogénesis. Se caracteriza por la presencia de agenesia del cuerpo calloso, manifestaciones neurológicas complejas que van de leves a graves (discapacidad intelectual, retraso del desarrollo, epilepsia, distonía) y anomalías urogenitales (hipospadias, criptorquidia, displasia renal, genitales ambiguos). Además, se han observado anomalías esqueléticas (contracturas de las extremidades, escoliosis), rasgos faciales dismórficos (crestas supraorbitarias prominentes, sinofris o falta de separación de las cejas, ojos grandes) y atrofia óptica."},"it":{"name":"Sindrome da agenesia del corpo calloso-anomalie dei genitali","synonyms":["Sindrome di Proud-Levine-Carpenter"],"definition":"L'agenesia del corpo calloso in associazione con anomalie dei genitali è un difetto genetico raro dello sviluppo dell'embrione, caratterizzato da agenesia del corpo calloso, segni clinici neurologici lievi-gravi (disabilità intellettiva, ritardo dello sviluppo, epilessia, distonia) e anomalie del tratto urogenitale (ipospadia, criptorchidismo, displasia renale, genitali ambigui). Posso essere presenti altre anomalie scheletriche (contratture degli arti, scoliosi), dismorfismi facciali (prominenza delle arcate sopraorbitali, sinofria, occhi grandi) e atrofia ottica"},"nl":{"name":"Agenesie van corpus callosum - abnormale genitaliën-syndroom","synonyms":["ACC - abnormale genitaliën-syndroom","Microcefalie - agenesie van corpus callosum - abnormale genitaliën-syndroom","Syndroom van Proud","Syndroom van Proud-Levine-Carpenter"],"definition":"Agenesie van het corpus callosum - abnormale genitaliën-syndroom is een zeldzaam, genetisch syndroom met een ontwikkelingsdefect tijdens de embryogenese dat gekarakteriseerd wordt door agenesie van het corpus callosum, milde tot ernstige neurologische manifestaties (intellectuele achterstand, ontwikkelingsachterstand, epilepsie, dystonie), en urogenitale anomalieën (hypospadieën, cryptorchisme, nierdysplasie, ambigue genitaliën). Bijkomend werden anomalieën van het skelet (ledemaatcontracturen, scoliose), dysmorfe gezichtskenmerken (prominent supraorbitale randen, synophrys, grote ogen) en opticusatrofie waargenomen."},"pt":{"name":"Síndrome de agenesia do corpo caloso-anomalias genitais","synonyms":["Síndrome Proud","Síndrome Proud-Levine-Carpenter","Síndrome de microcefalia-agenesia do corpo caloso-anomalias genitais"]},"pl":{"name":"Zespół agenezji ciała modzelowatego i nieprawidłowych narządów płciowych","synonyms":["Zespół Prouda","Zespół Prouda, Levine'a i Carpentera","Zespół małogłowia, agenezji ciała modzelowatego i nieprawidłowych narządów płciowych"]},"cs":{"name":"Syndrom zahrnující mikrocefalii, agenezi corpus callosum a abnormální genitál","synonyms":["Proudové-Levineův-Carpenterové syndrom","Proud-Levine-Carpenterové syndrom"]},"uk":{"name":"Синдром агенезії мозолистого тіла - аномалії геніталій","synonyms":["ACC-синдром аномальних геніталій","Мікроцефалія-агенезія мозолистого тіла-аномалія геніталій","Синдром Прауда","Синдром Прауда-Левіна-Карпентера"],"definition":"Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (prominent supraorbital ridges, synophris, large eyes) and optic atrophy have been observed."},"zh":{"name":"胼胝体发育不全-生殖器异常综合征","synonyms":["小头畸形-胼胝体发育不全-生殖器异常综合征"]},"tr":{"name":"Korpus kallozum agenezi-anormal genitalya sendromu","synonyms":["Proud sendromu","ACC-anormal genitalya sendromu","Proud-Levine-Carpenter sendromu","Mikrosefali-korpus kallozum agenezi-anormal genitalya sendrom"]}},"xrefs":[{"source":"OMIM","code":"300004","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010224","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563110","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796124","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4528","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":423655,"name":"ARX-related encephalopathy-brain malformation spectrum","classifications":[147,156,181,185]}],"children":[],"genes":[{"symbol":"ARX","name":"aristaless related homeobox","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"14722918[PMID]","hgnc":"18060","ensembl":"ENSG00000004848","omim":"300382","loci":["Xp21.3"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010720","label":"Abnormal hair pattern","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003272","label":"Abnormality of the hip bone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002230","label":"Generalized hirsutism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000110","label":"Renal dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008678","label":"Renal hypoplasia/aplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002445","label":"Tetraplegia","frequency":"Occasional (29-5%)","criteria":null}]}}