{"orpha":2321,"name":"Jung syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"A rare, congenital malformation syndrome characterized by the association of anterior ocular chamber cleavage disorder with developmental delay, short stature and congenital hypothyroidism. Additional manifestations include cerebellar hypoplasia, tracheal stenosis, narrow external auditory meatus, and hip dislocation. There have been no further description in the literature since 1995.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2321/","orphanet_url":"https://www.orpha.net/en/disease/detail/2321","names":{"fr":{"name":"Syndrome de Jung","definition":"Syndrome de malformation congénitale rare caractérisé par l'association d'une anomalie du clivage de la chambre oculaire antérieure avec un retard de développement, une petite taille et une hypothyroïdie congénitale. Les autres signes cliniques incluent une hypoplasie cérébelleuse, une sténose trachéale, un conduit auditif externe étroit et une dislocation de la hanche. Aucun cas n'a été décrit dans la littérature depuis 1995."},"de":{"name":"Jung-Wolff-Back-Stahl-Syndrom","definition":"Ein kongenitales Fehlbildungssyndrom, das durch die Assoziation einer Spaltstörung der vorderen Augenkammer mit Entwicklungsverzögerung, Kleinwuchs und kongenitaler Hypothyreose gekennzeichnet ist. Weitere Erscheinungsformen sind Kleinhirnhypoplasie, Trachealstenose, enger äußerer Gehörgang und Hüftluxation. Seit 1995 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de Jung","definition":"Es un síndrome malformativo congénito, poco frecuente caracterizado por la asociación de un trastorno de escisión de la cámara anterior ocular acompañado de retraso psicomotor, talla baja e hipotiroidismo congénito. Otras manifestaciones adicionales incluyen hipoplasia cerebelosa, estenosis traqueal, meato auditivo externo estrecho y luxación de cadera. No ha habido más casos descritos en la literatura desde 1995."},"it":{"name":"Sindrome di Jung","definition":"Si tratta di una sindrome rara da malformazioni congenite, caratterizzata da un'anomalia del clivaggio della camera anteriore dell'occhio associata a ritardo dello sviluppo, bassa statura e ipotiroidismo congenito. I pazienti possono presentare anche ipoplasia cerebellare, stenosi della trachea, restringimento del meato acustico esterno e dislocazione dell'anca. Non sono stati descritti nuovi casi dopo il 1995."},"nl":{"name":"Syndroom van Jung","definition":"Een zeldzaam congenitaal malformatiesyndroom, gekarakteriseerd door de associatie van splijting van voorste oogkamer met ontwikkelingsachterstand, kleine gestalte en congenitale hypothyreoïdie. Bijkomende manifestaties zijn onder meer hypoplasie van cerebellum, stenose van trachea, nauw uitwendige gehoorgang, en luxatie van heup. Sinds 1995 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome Jung-Wolff-Back-Stahl"},"pl":{"name":"Zespół Junga, Wolffa, Backa i Stahla"},"cs":{"name":"Jungův-Wolffův-Backův-Stahlův syndrom"},"uk":{"name":"Синдром Юнга","definition":"A rare, congenital malformation syndrome characterized by the association of anterior ocular chamber cleavage disorder with developmental delay, short stature and congenital hypothyroidism. Additional manifestations include cerebellar hypoplasia, tracheal stenosis, narrow external auditory meatus, and hip dislocation. There have been no further description in the literature since 1995."},"zh":{"name":"Jung综合征"},"tr":{"name":"Jung sendromu"}},"xrefs":[{"source":"OMIM","code":"601427","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0011078","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537694","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1275130","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3062","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":519276,"name":"Anterior segment developmental anomaly with extraocular manifestations","classifications":[147,156,189]},{"orpha":177107,"name":"Syndromic hypothyroidism","classifications":[156,193]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"7537583[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_7537583[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002162","label":"Low posterior hairline","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000311","label":"Round face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002777","label":"Tracheal stenosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000929","label":"Abnormal skull morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000078","label":"Abnormality of the genital system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007370","label":"Aplasia/Hypoplasia of the corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000506","label":"Telecanthus","frequency":"Frequent (79-30%)","criteria":null}]}}