{"orpha":91413,"name":"Congenital Horner syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital Claude-Bernard-Horner syndrome"],"definition":"Congenital Horner syndrome is a rare neurological disorder characterized by relative pupillary miosis and blepharoptosis, evident at birth, caused by interruption of the oculosympathetic innervation at any point along the neural pathway from the hypothalamus to the orbit. Often additional symptoms, such as enophthalmos, facial anhidrosis, iris heterochromia, conjunctival congestion, transient hypotonia and/or pupillary dilation lag, may be present. Association with birth trauma, neoplasms or vascular malformations has been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-91413/","orphanet_url":"https://www.orpha.net/en/disease/detail/91413","names":{"fr":{"name":"Syndrome de Horner congénital","synonyms":["Syndrome congénital de Claude-Bernard-Horner"],"definition":"Un trouble neurologique rare caractérisé par une blépharoptose et un myosis pupillaire relatifs visibles à la naissance, causés par l'interruption de l'innervation oculosympathique le long de la voie neurale, depuis l'hypothalamus jusqu'aux orbites. Les symptômes additionnels parfois présents incluent une énophtalmie, une anhidrose faciale, une hétérochromie irienne, une congestion conjonctivale, une hypotonie transitoire et/ou un retard de la dilatation pupillaire. Le syndrome a été associé à un traumatisme à la naissance, des néoplasmes ou des malformations vasculaires."},"de":{"name":"Horner-Syndrom, kongenitales","synonyms":["Claude-Bernard-Horner-Syndrom, kongenitales"]},"es":{"name":"Síndrome de Horner congénito","synonyms":["Síndrome de Claude-Bernard-Horner congénito"],"definition":"Es un trastorno neurológico poco frecuente caracterizado por miosis pupilar relativa y blefaroptosis patente al nacimiento. Está causado por la interrupción de la inervación oculosimpática en cualquier punto a lo largo de la vía neural desde el hipotálamo hasta la órbita ocular. También pueden estar presentes otros síntomas tales como enoftalmos, anhidrosis facial, heterocromía del iris, congestión conjuntival, hipotonía transitoria y/o retraso de la dilatación pupilar. Se ha descrito asociación con traumatismo al nacer, neoplasias o malformaciones vasculares."},"it":{"name":"Sindrome congenita di Horner","synonyms":["Sindrome congenita di Claude Bernard-Horner"],"definition":"La sindrome congenita di Horner è una malattia neurologica rara, caratterizzata da miosi pupillare relativa e blefaroptosi presenti alla nascita, secondari ad una interruzione del fascio oculosimpatico lungo la via neurale che collega l'ipotalamo all'orbita. Sono spesso presenti altri segni clinici, come l'enoftalmo, l'anidrosi facciale, l'eterocromia dell'iride, la congestione delle congiuntive, l'ipotonia transitoria e/o la ritardata dilatazione delle pupille. Può associarsi a traumi alla nascita, neoplasie o malformazioni vascolari."},"nl":{"name":"Congenitaal syndroom van Horner","synonyms":["Congenitaal syndroom van Claude-Bernard-Horner"],"definition":"Congenitaal syndroom van Horner is een zeldzame neurologische stoornis die gekarakteriseerd wordt door relatieve vernauwing van de pupil en blefaroptose, die zichtbaar zijn bij de geboorte en veroorzaakt worden door onderbreking van de oculosympathische zenuwen op eender welk punt langs de neurale route van de hypothalamus naar de oogholte. Vaak kunnen bijkomende symptomen aanwezig zijn, zoals enoftalmie, faciale anhidrose, heterochromie van de iris, conjunctivale congestie, transiënte hypotonie en/of vertraagde pupildilatatie. Associatie met geboortetrauma, neoplasmata of vasculaire malformaties werd reeds gerapporteerd."},"pt":{"name":"Síndrome Horner congénito"},"pl":{"name":"Wrodzony zespół Hornera","synonyms":["Wrodzony zespół Claude'a,Bernarda i Hornera"]},"cs":{"name":"Vrozený Hornerův syndrom","synonyms":["Vrozený Claudův-Bernardův-Hornerův syndrom","Vrozený Claude-Bernard-Hornerův syndrom"]},"uk":{"name":"Вроджений синдром Горнера","synonyms":["Вроджений синдром Клода-Бернара-Горнера"],"definition":"Congenital Horner syndrome is a rare neurological disorder characterized by relative pupillary miosis and blepharoptosis, evident at birth, caused by interruption of the oculosympathetic innervation at any point along the neural pathway from the hypothalamus to the orbit. Often additional symptoms, such as enophthalmos, facial anhidrosis, iris heterochromia, conjunctival congestion, transient hypotonia and/or pupillary dilation lag, may be present. Association with birth trauma, neoplasms or vascular malformations has been reported."},"zh":{"name":"先天性霍纳综合征","synonyms":["先天性Claude-Bernard-Horner综合征"]},"tr":{"name":"Doğumsal Horner sendromu","synonyms":["Doğumsal Claude-Bernard-Horner sendromu"]}},"xrefs":[{"source":"OMIM","code":"143000","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G90.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8D8A.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2141014809"},{"source":"MONDO","code":"0007735","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564178","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1840475","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6670","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10074554","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":519286,"name":"Rare disorder of the pupil","classifications":[189]},{"orpha":98578,"name":"Rare disorder with ptosis","classifications":[147,156,189]},{"orpha":522568,"name":"Rare genetic disorder of the pupil","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}