{"orpha":1236,"name":"Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism, including microbrachycephaly, sloping forehead, micro/anophthalmia, large ears, prominent nasal root, mild micrognathia, and cleft palate, associated with cerebral palsy with choreoathetoid movements, intellectual disability, dextrocardia and longitudinal folding of plantae pedis. There have been no further descriptions in the literature since 1992.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1236/","orphanet_url":"https://www.orpha.net/en/disease/detail/1236","names":{"fr":{"name":"Syndrome de microbrachycéphalie sévère-déficience intellectuelle-paralysie cérébrale athétosique","definition":"Anomalies congénitales multiples/syndrome dysmorphique rare caractérisé par une dysmorphie craniofaciale, notamment une microbrachycéphalie, un front fuyant, une micro/anophtalmie, de grandes oreilles, un pont nasal proéminent, une micrognathie légère et une fente palatine, associée à une paralysie cérébrale avec mouvements choréoathétosiques, une déficience intellectuelle, une dextrocardie et une déformation longitudinale de la plante de pieds. Aucun cas n'a été décrit dans la littérature depuis 1992."},"de":{"name":"Schwere Mikrobrachyzephalie-Intelligenzminderung-athetoide Zerebralparese-Syndrom"},"es":{"name":"Síndrome grave de microbraquicefalia-discapacidad intelectual-parálisis cerebral atetoide","definition":"El síndrome grave de microbraquicefalia - discapacidad intelectual - parálisis cerebral atetoide es un síndrome dismórfico de anomalías congénitas múltiples muy poco frecuente, caracterizado por dismorfia craneofacial, incluyendo microbraquicefalia, frente inclinada, micro- / anoftalmía, orejas grandes, raíz nasal prominente, micrognatia moderada y labio leporino, asociado a parálisis cerebral con movimientos coreoatetoides, discapacidad intelectual, dextrocardia y pliegues longitudinales en la planta de los pies. Desde 1992 no se han descrito más casos en la literatura."},"it":{"name":"Sindrome da microbrachicefalia, disabilità intellettiva, paralisi cerebrale atetoide","definition":"La sindrome che associa la microbrachicefalia, la disabilità intellettiva e la paralisi cerebrale atetoide è una malattia molto rara da anomalie/dismorfismi congeniti multipli, caratterizzata da dismorfismi craniofacciali (microbrachicefalia, fronte sfuggente, micro/anoftalmia, orecchie grandi, sella nasale prominente, micrognazia lieve e palatoschisi), associati a paralisi cerebrale con movimenti coreo-atetosici, disabilità intellettiva, destrocardia e piega longitudinale della pianta dei piedi. Non sono stati descritti nuovi casi dopo il 1992."},"nl":{"name":"Ernstige microbrachycefalie - intellectuele achterstand - athetoïde cerebrale parese-syndroom","definition":"Ernstige microbrachycefalie - intellectuele achterstand - athetoïde cerebrale parese-syndroom is een uiterst zeldzaam meervoudige congenitale anomalieën/dysmorfie-syndroom dat gekarakteriseerd wordt door craniofaciale dysmorfie, waaronder microbrachycefalie, hellend voorhoofd, micro-/anoftalmie, grote oren, uitgesproken neuswortel, milde micrognathie, en gespleten verhemelte, geassocieerd met hersenverlamming met choreoathetoïde bewegingen, intellectuele achterstand, dextrocardie en longitudinale plooiing van de voetzolen. Sinds 1992 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de microbraquicefalia grave-perturbação do desenvolvimento intelectual-paralisia cerebral atetoide"},"pl":{"name":"Zespół małogłowia z krótkogłowiem, niepełnosprawności intelektualnej i mózgowego porażenia atetoidalnego","synonyms":["Zespół Bd"],"definition":"*Zespół małogłowia z krótkogłowiem, niepełnosprawności intelektualnej i mózgowego porażenia atetoidalnego jest niezwykle rzadkim, zespołem mnogich wad wrodzonych/zespołem dysmorficznym, który charakteryzuje się dysmorfią twarzoczaszki, w tym małogłowiem z krótkogłowiem, spadzistym czołem, małooczem/bezoczem, dużymi uszami, wydatną nasadą nosa, łagodnym małożuchwiem oraz rozszczepem podniebienia; towarzyszą takie objawy jak: porażenie mózgowe z ruchami pląsawiczo - atetoidalnymi, niepełnosprawność intelektualna, dekstrokardia i podłużne pofałdowanie okolicy podeszwowej stóp. Od 1992 roku w literaturze nie ma nowych opisów."},"cs":{"name":"Syndrom zahrnující těžkou mikrobrachycefalii, mentální retardaci a athetoidní mozkovou obrnu"},"uk":{"name":"Синдром важкої мікробрахіцефалії - інтелектуальної недостатності - атетозного церебрального паралічу","definition":"A rare, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism, including microbrachycephaly, sloping forehead, micro/anophthalmia, large ears, prominent nasal root, mild micrognathia, and cleft palate, associated with cerebral palsy with choreoathetoid movements, intellectual disability, dextrocardia and longitudinal folding of plantae pedis. There have been no further descriptions in the literature since 1992."},"zh":{"name":"重度小头短头畸形-智力障碍-手足徐动症样大脑麻痹综合征"},"tr":{"name":"ağır mikrobrakisefali-zihinsel yetersizlik-atetoid serebral palsi sendromu"}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0015252","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190778","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3482","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":183518,"name":"Hereditary ataxia","classifications":[156,181]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["No data available"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"1609828[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_1609828[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0007477","label":"Abnormal dermatoglyphics","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100022","label":"Abnormality of movement","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007598","label":"Bilateral single transverse palmar creases","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000248","label":"Brachycephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000337","label":"Broad forehead","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011304","label":"Broad thumb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010751","label":"Chin dimple","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002006","label":"Facial cleft","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000668","label":"Hypodontia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100720","label":"Hypoplasia of the ear cartilage","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009748","label":"Large earlobe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002558","label":"Supernumerary nipple","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000174","label":"Abnormal palate morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000765","label":"Abnormal thorax morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000592","label":"Blue sclerae","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000324","label":"Facial asymmetry","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100267","label":"Lip pit","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000303","label":"Mandibular prognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000384","label":"Preauricular skin tag","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001182","label":"Tapered finger","frequency":"Frequent (79-30%)","criteria":null}]}}