{"orpha":269229,"name":"Pontine tegmental cap dysplasia","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["PTCD"],"definition":"A rare syndrome with a brainstem malformation as a major feature characterized by ventral pontine hypoplasia, dorsal cap projection into the forth ventricle and cranial nerve dysfunction. Clinical manifestations of multiple cranial nerves deficits, pyramidal and cerebellar signs include neonatal hypotonia, ataxia, sensorineural deafness, reduced vision, language and speech disorders, feeding and swallowing difficulties, facial paralysis and intellectual disability. Various cardiac, gastrointestinal, genitourinary and skeletal defects have been sometimes reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-269229/","orphanet_url":"https://www.orpha.net/en/disease/detail/269229","names":{"fr":{"name":"Dysplasie du tegmentum pontique","synonyms":["PTCD"],"definition":"Malformation rare du système nerveux central caractérisée par des anomalies congénitales spécifiques du pont de Varole, de la médulla et du cervelet. Les manifestations cliniques de multiples atteintes des nerfs crâniens et d'une atteinte pyramidale et cérébelleuse comprennent une hypotonie néonatale, une ataxie, une surdité neurosensorielle, une diminution de la vision, des troubles du langage et de la parole, des difficultés à s'alimenter et à déglutir, une paralysie faciale et une déficience intellectuelle. Diverses anomalies cardiaques, gastro-intestinales, génito-urinaires et squelettiques ont également été rapportées dans certains cas."},"de":{"name":"Pontine Tegmentale Capdysplasie","synonyms":["PTCD"]},"es":{"name":"Displasia pontino-tegmental cap","synonyms":["Displasia del tegmento pontino en gorra","PTCD"],"definition":"La displasia pontino-tegmental cap, o del tegmento pontino en gorra, es una malformación poco frecuente del sistema nervioso central que se caracteriza por un patrón específico de anomalías congénitas que afectan a la protuberancia, el bulbo y el cerebelo. Las manifestaciones clínicas son múltiples déficits de nervios craneales síntomas piramidales y cerebelosos, incluyendo hipotonía neonatal, ataxia, sordera neurosensorial, visión reducida, trastornos del lenguaje y del habla, problemas en la alimentación y deglución, parálisis facial y discapacidad intelectual. Ocasionalmente, se han descrito diversos defectos cardíacos, gastrointestinales, genitourinarios y esqueléticos."},"it":{"name":"Displasia del tegmento pontino","synonyms":["PTCD"],"definition":"La displasia del tegmento pontino è una malformazione rara del sistema nervoso centrale, caratterizzata da specifiche anomalie congenite del ponte, del midollo e del cervelletto. I segni clinici comprendono i deficit multipli dei nervi cranici e i segni piramidali e cerebellari, tra i quali l'ipotonia neonatale, l'atassia, la sordità neurosensoriale, la riduzione della vista, i disturbi del linguaggio e della sua produzione, le difficoltà di alimentazione e deglutizione, la paresi facciale e la disabilità intellettiva. Alcuni pazienti presentano anomalie cardiache, gastrointestinali, genitourinarie e scheletriche."},"nl":{"name":"Pontiene tegmentale kap-dysplasie","synonyms":["PTCD"],"definition":"Pontiene tegmentale kap-dysplasie is een zeldzame malformatie van het centrale zenuwstelsel, en wordt gekarakteriseerd door een specifiek patroon van congenitale anomalieën die de pons, de medulla, en het cerebellum treffen. Klinische manifestaties van meervoudige craniale zenuwdefecten en piramidale en cerebellaire tekenen zijn onder meer neonatale hypotonie, ataxie, sensorineurale doofheid, verminderd zicht, taal- en spraakstoornissen, voedings- en slikproblemen, gezichtsverlamming en intellectuele beperking. In enkele gevallen werden reeds verscheidene cardiale, gastro-intestinale, genito-urinaire en skeletale defecten gerapporteerd."},"pt":{"name":"Displasia do tegumento da ponte","synonyms":["PTCD"]},"pl":{"name":"Dysplazja nakrywki mostu","synonyms":["PTCD"],"definition":"*Dysplazja nakrywki mostu jest rzadką wadą rozwojową ośrodkowego układu nerwowego, która charakteryzuje się specyficznym wzorcem wad wrodzonych, dotyczących mostu, rdzenia kręgowego i móżdżku. Obraz kliniczny, który wynika z zaburzeń funkcji nerwów czaszkowych, objawów piramidowych i móżdżkowych, obejmuje hipotonię noworodkową, ataksję, niedosłuch czuciowo-nerwowy, niedowidzenie, zaburzenia mowy i sprawności językowej, trudności w karmieniu i połykaniu, porażenie twarzy i niepełnosprawność intelektualną. Opisywano też różne wady serca, przewodu pokarmowego, układu moczowo-płciowego i kostnego."},"cs":{"name":"Pontinní dysplázie s dorzální čepičkou","synonyms":["PTCD"]},"uk":{"name":"Дисплазія мостоподібного відростка","synonyms":["PTCD"],"definition":"A rare, central nervous system malformation characterized by specific pattern of congenital anomalies affecting the pons, medulla, and cerebellum. Clinical manifestations of multiple cranial nerves deficits, pyramidal and cerebellar signs include neonatal hypotonia, ataxia, sensorineural deafness, reduced vision, language and speech disorders, feeding and swallowing difficulties, facial paralysis and intellectual disability. Various cardiac, gastrointestinal, genitourinary and skeletal defects have been sometimes reported."},"zh":{"name":"脑桥被盖帽发育不良","synonyms":["PTCD"],"definition":"脑桥被盖发育不良是一种罕见的中枢神经系统畸形，是影响脑桥、髓质和小脑的特殊类型的先天性异常。多发脑神经缺损、锥体束和小脑体征的临床表现包括新生儿肌张力低下、共济失调、感觉神经性耳聋、视力下降、语言和言语障碍、进食和吞咽困难、面瘫和智力障碍。各种心脏、胃肠、泌尿生殖和骨骼缺陷也有相关报道。"},"tr":{"name":"Pontine tegmental kapak displazisi","synonyms":["PTCD"]}},"xrefs":[{"source":"OMIM","code":"614688","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013858","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3541340","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10919","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":729519,"name":"Syndrome with a brainstem malformation as a major feature","classifications":[147,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":22.0,"area":"Worldwide","status":"Validated","source":"21651769[PMID]_21705787[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}