{"orpha":137929,"name":"Neonatal brainstem dysfunction","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Neonatal brainstem dysfunction is a rare neurologic disease characterized by the association of suction-swallowing dysfunction, abnormal laryngeal sensitivity and motility (manifesting with dyspnea or obstructive apnea-hypopnea), gastroesophageal reflux (generally resistant to medication) and cardiac vagal overactivity (e.g. brachycardia, vasovagal episodes) of varying degrees of severity. Impaired social interaction has also been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-137929/","orphanet_url":"https://www.orpha.net/en/disease/detail/137929","names":{"fr":{"name":"Anomalie fonctionnelle néonatale du tronc cérébral","definition":"Maladie neurologique rare caractérisée par l'association de troubles de la succion et de la déglutition, de troubles de la sensibilité et de la mobilité laryngée (se manifestant par une dyspnée ou une apnée-hypopnée obstructive), d'un reflux gastro-oesophagien (généralement résistant aux médicaments) et d'une hyperactivité vagale cardiaque (par exemple, brachycardie, malaises vasovagaux) de degrés de gravité variables. Le trouble des interactions sociales a également été rapporté."},"de":{"name":"Hirnstamm-Dysfunktion, neonatale"},"es":{"name":"Disfunción troncoencefálica neonatal","definition":"Es una enfermedad neurológica poco frecuente caracterizada por la asociación, en grado variable, de disfunción en la succión y deglución, anomalías de la sensibilidad y motilidad laríngeas (que se manifiestan con disnea o apnea-hipopnea obstructiva), reflujo gastroesofágico (generalmente resistente a la medicación) e hiperactividad vagal cardíaca (p. ej., bradicardia, episodios vasovagales). También se ha descrito afectación en la interacción social."},"it":{"name":"Disfunzione del tronco encefalico neonatale","definition":"La sindrome da microdelezione 20q11.2 è una disabilità intellettiva sindromica rara, di origine genetica, caratterizzata da ritardo psicomotorio, ipotonia, difficoltà di alimentazione, ritardo della crescita, anomalie delle mani e dei piedi (clinodattilia, camptodattilia, brachidattilia, malposizionamento dei piedi) e dismorfismi craniofacciali. I pazienti possono anche presentare ritardo della crescita prenatale ed anomalie gastrointestinali, cardiache e oculari. La disfunzione del tronco encefalico neonatale è una malattia neurologica rara, caratterizzata dalla associazione tra una disfunzione della suzione e della deglutizione, anomalie della sensibilità e della motilità laringea (che si manifestano con dispnea o apnea/ipopnea ostruttiva), reflusso gastroesofageo (di solito resistente al trattamento) ed iperattività vagale cardiaca (ad esempio brachicardia ed episodi vasovagali) di gravità variabile. Può associarsi a difficoltà nell'interazione sociale."},"nl":{"name":"Neonatale disfunctie van hersenstam","definition":"Neonatale disfunctie van de hersenstam is een zeldzame neurologische ziekte die gekarakteriseerd wordt door de associatie van disfunctie van het zuigen-slikken, abnormale sensitiviteit en motiliteit van de larynx (die zich manifesteren met dyspneu of obstructieve apneu-hypopneu), gastro-oesofageale reflux (doorgaans resistent tegen medicatie) en cardiale vagale overactiviteit (e.g. brachycardie, vasovagale episodes) met variabele gradaties in ernst Moeilijkheden met sociale interactie werden ook reeds gerapporteerd."},"pt":{"name":"Disfunção do tronco cerebral, neonatal"},"pl":{"name":"Dysfunkcja pnia mózgu noworodków"},"cs":{"name":"Neonatální dysfunkce mozkového kmene"},"uk":{"name":"Дисфункція стовбура головного мозку у новонароджених","definition":"Neonatal brainstem dysfunction is a rare neurologic disease characterized by the association of suction-swallowing dysfunction, abnormal laryngeal sensitivity and motility (manifesting with dyspnea or obstructive apnea-hypopnea), gastroesophageal reflux (generally resistant to medication) and cardiac vagal overactivity (e.g. brachycardia, vasovagal episodes) of varying degrees of severity. Impaired social interaction has also been reported."},"zh":{"name":"新生儿脑干功能障碍","definition":"新生儿脑干功能障碍是一种罕见的神经系统疾病，其特征是吸入-吞咽功能障碍、喉部敏感度和运动异常（表现为呼吸困难或阻塞性呼吸暂停-呼吸减弱）、胃食管反流（通常对药物抵抗）和严重程度不同的心脏迷走神经活动过度（如短心动过缓，血管迷走神经发作）。社交障碍也有报道。"},"tr":{"name":"Yenidoğan beyin sapı disfonksiyonu"}},"xrefs":[{"source":"ICD-10","code":"G93.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0015315","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749374","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"19892","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98006,"name":"Rare neurologic disease","classifications":[181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}