{"orpha":3191,"name":"Subaortic stenosis-short stature syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Onat syndrome"],"definition":"A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the association of short stature and progressive discrete subaortic stenosis. Additional variable manifestations include upturned nose, voice and vocal cord abnormalities, obstructive lung disease, inguinal hernia, kyphoscoliosis and, occasionally, epicanthus, strabismus, microphthalmos and widely spaced teeth. There have been no further descriptions in the literature since 1984.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3191/","orphanet_url":"https://www.orpha.net/en/disease/detail/3191","names":{"fr":{"name":"Syndrome de sténose subaortique-petite taille","synonyms":["Syndrome d'Onat"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare d'origine génétique, caractérisé par l'association d'une petite taille et d'une sténose subaortique discrète progressive. Inconstantes, les autres manifestations comprennent des narines antéversées, des anomalies des cordes vocales et de la voix, une maladie pulmonaire obstructive, une hernie inguinale, une cyphoscoliose et, dans certains cas, un épicanthus, un strabisme, une microphtalmie et un écart important entre les dents. Aucun cas n'a été décrit dans la littérature depuis 1984."},"de":{"name":"Subaortenstenose-Kleinwuchs-Syndrom","synonyms":["Onat-Syndrom"]},"es":{"name":"Síndrome de estenosis subaórtica-talla baja","definition":"Es un síndrome de dismorfia / múltiples anomalías congénitas genético y poco frecuente caracterizado por la asociación de talla baja y discreta estenosis subaórtica progresiva. Otros hallazgos adicionales variables incluyen nariz antevertida, anomalías en la voz y las cuerdas vocales, enfermedad pulmonar obstructiva, hernia inguinal, cifoescoliosis y, ocasionalmente, epicanto, estrabismo, microftalmia y dientes muy espaciados. No ha habido más casos descritos en la literatura desde 1984."},"it":{"name":"Stenosi sottoaortica con bassa statura","definition":"È una malattia genetica rara da anomalie/dismorfismi congeniti multipli, caratterizzata dall'associazione tra bassa statura e stenosi sottoaortica discreta progressiva. Altri segni clinici variabili sono la punta del naso rivolta verso l'alto, le anomalie della voce e delle corde vocali, la pneumopatia ostruttiva, l'ernia inguinale, la cifoscoliosi e, raramente, l'epicanto, lo strabismo, il microftalmo e i denti iperdistanziati. Non sono stati descritti nuovi casi dopo il 1984."},"nl":{"name":"Subaortastenose - kleine gestalte-syndroom","synonyms":["Syndroom van Onat"],"definition":"Een zeldzaam, genetisch, meervoudige congenitale anomalieën/dysmorfie-syndroom dat gekarakteriseerd wordt door de associatie van kleine gestalte en progressieve, discrete subaortastenose. Bijkomende variabele manifestaties zijn onder meer een wipneus, afwijkingen van de stem en stembanden, obstructieve longziekte, hernia inguinalis (liesbreuk), kyfoscoliose en, occasioneel, epicanthus, strabisme, microftalmie en ver uit elkaar staande tanden. Sinds 1984 verschenen er geen verdere beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de estenose sub-aórtica-baixa estatura","synonyms":["Síndrome Onat"]},"pl":{"name":"Zwężenie podaortalne -niski wzrost","synonyms":["Zespół Onata"]},"cs":{"name":"Syndrom zahrnující subaortickou stenózu a malý vzrůst","synonyms":["Onatův syndrom"]},"uk":{"name":"Синдром низькорослості-субаортального стенозу","synonyms":["Синдром Оната"],"definition":"A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by the association of short stature and progressive discrete subaortic stenosis. Additional variable manifestations include upturned nose, voice and vocal cord abnormalities, obstructive lung disease, inguinal hernia, kyphoscoliosis and, occasionally, epicanthus, strabismus, microphthalmos and widely spaced teeth. There have been no further descriptions in the literature since 1984."},"zh":{"name":"主动脉瓣下狭窄-矮小综合征","synonyms":["Onat综合征"]},"tr":{"name":"Subaortik stenoz-kısa boy sendromu","synonyms":["Onat sendromu"]}},"xrefs":[{"source":"OMIM","code":"271960","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010082","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537749","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0795947","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"405","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":183570,"name":"Genetic malformation syndrome with short stature","classifications":[156]},{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":139021,"name":"Malformation syndrome with short stature","classifications":[147]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":156532,"name":"Rare syndrome with cardiac malformations","classifications":[147,148,156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"573203[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_573203[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0008777","label":"Abnormal vocal cord morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001608","label":"Abnormality of the voice","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005174","label":"Membranous subvalvular aortic stenosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001682","label":"Subvalvular aortic stenosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003119","label":"Abnormal circulating lipid concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001061","label":"Acne","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007598","label":"Bilateral single transverse palmar creases","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001080","label":"Biliary tract abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000691","label":"Microdontia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000568","label":"Microphthalmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005048","label":"Synostosis of carpal bones","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005978","label":"Type II diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null}]}}