{"orpha":2663,"name":"Nathalie syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Deafness-cataract-skeletal anomalies syndrome","Sensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome"],"definition":"A rare, genetic developmental defect during embryogenesis disorder characterized by sensorineural hearing impairment, childhood-onset cataract, underdeveloped secondary sexual characteristics, spinal muscular atrophy, growth retardation, and cardiac and skeletal anomalies. Sudden death, as well as fatal cardiomyopathy and heart failure, have been described in some cases.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2663/","orphanet_url":"https://www.orpha.net/en/disease/detail/2663","names":{"fr":{"name":"Syndrome de Nathalie","synonyms":["Syndrome de surdité-cataracte-anomalies squelettiques"],"definition":"Anomalie rare du développement embryonnaire, d'origine génétique, caractérisée par une déficience auditive neurosensorielle, une cataracte à début infantile, des caractères sexuels secondaires insuffisamment développés, une amyotrophie spinale, un retard de croissance et des anomalies cardiaques et squelettiques. Des cas de mort subite, ainsi que de cardiomyopathie et d'insuffisance cardiaque létales, ont été rapportés."},"de":{"name":"Nathalie-Syndrom","synonyms":["Schwerhöigkeit-Katarakt-Skelettanomalien-Syndrom","Sensorineuraler Hörverlust-Katarakt-Skelettanomalien-Kardiomyopathie-Syndrom"],"definition":"Eine seltene, genetisch bedingte Entwicklungsstörung während der Embryogenese, die durch Schallempfindungsschwerhörigkeit, Katarakt im Kindesalter, unterentwickelte sekundäre Geschlechtsmerkmale, spinale Muskelatrophie, Wachstumsretardierung sowie Herz- und Skelettanomalien gekennzeichnet ist. Plötzlicher Tod sowie tödliche Kardiomyopathie und Herzversagen sind in einigen Fällen beschrieben worden."},"es":{"name":"Síndrome de Nathalie","synonyms":["Síndrome de hipoacusia neurosensorial-catarata-anomalías esqueléticas-miocardiopatía","Síndrome de sordera-catarata-anomalías esqueléticas"],"definition":"Es un defecto genético y poco frecuente del desarrollo embrionario caracterizado por una hipoacusia neurosensorial, catarata de inicio en la infancia, falta del desarrollo de las características sexuales secundarias, atrofia muscular espinal, retraso del crecimiento y anomalías cardíacas y esqueléticas. En algunos casos se ha descrito muerte súbita, así como miocardiopatía fatal e insuficiencia cardíaca."},"it":{"name":"Sindrome di Nathalie","definition":"Si tratta di un difetto genetico raro dello sviluppo dell'embrione, caratterizzato da sordità neurosensoriale, cataratta ad esordio infantile, iposviluppo dei caratteri sessuali secondari, atrofia muscolare spinale, ritardo della crescita, cardiopatie e anomalie scheletriche. Sono stati descritti casi di morte improvvisa, cardiomiopatia letale e insufficienza cardiaca."},"nl":{"name":"Syndroom van Nathalie","synonyms":["Doofheid - cataract - skeletale anomalieën-syndroom","Sensorineuraal gehoorverlies - cataract - skeletale anomalieën - cardiomyopathie-syndroom"],"definition":"Een zeldzaam, genetisch ontwikkelingsdefect tijdens de embryogenese, gekarakteriseerd door sensorineuraal gehoorverlies, in de kindertijd aanvangend cataract, onderontwikkelde secundaire geslachtskenmerken, spinale musculaire atrofie, groeiretardatie, en hart- en skeletanomalieën. Plots overlijden, alsook fatale cardiomyopathie en hartfalen, werden in enkele gevallen beschreven."},"pt":{"name":"Síndrome Nathalie","synonyms":["Síndrome de perda auditiva neurosensorial-catarata-anomalias ósseas-miocardiopatia","Síndrome surdez-catarata-anomalias ósseas"]},"pl":{"name":"Zespół Nathalie","synonyms":["Głuchota - zaćma - wady szkieletu"]},"cs":{"name":"Natáliin syndrom","synonyms":["Syndrom zahrnující hluchotu, kataraktu a anomálie skeletu"]},"uk":{"name":"Синдром Наталі","synonyms":["Синдром глухоти-катастрофи-скелетних аномалій","Синдром сенсоневральної приглухуватості - катаракти - скелетних аномалій - кардіоміопатії"],"definition":"A rare, genetic developmental defect during embryogenesis disorder characterized by sensorineural hearing impairment, childhood-onset cataract, underdeveloped secondary sexual characteristics, spinal muscular atrophy, growth retardation, and cardiac and skeletal anomalies. Sudden death, as well as fatal cardiomyopathy and heart failure, have been described in some cases."},"zh":{"name":"Nathalie综合征","synonyms":["感音神经性耳聋-白内障-骨骼异常-心肌病综合征"]},"tr":{"name":"Nathalie sendromu","synonyms":["Sağırlık-katarakt-iskelet anomalileri sendromu","Sensörinöral işitme kaybı-katarakt-iskelet anomalileri-kardiyomiyopati sendromu"]}},"xrefs":[{"source":"OMIM","code":"255990","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009721","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538342","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1850626","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3929","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":217619,"name":"Syndrome associated with dilated cardiomyopathy","classifications":[146,156,233]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"1204231[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_1204231[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null}]}}