{"orpha":1355,"name":"Congenital heart defect-round face-developmental delay syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Sonoda syndrome"],"definition":"A very rare syndrome described in three sibs of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1355/","orphanet_url":"https://www.orpha.net/en/disease/detail/1355","names":{"fr":{"name":"Syndrome de cardiopathie congénitale-face ronde-petite taille","synonyms":["Syndrome de Sonoda"],"definition":"Syndrome très rare décrit dans une fratrie de trois enfants d'une famille japonaise, caractérisé par une cardiopathie congénitale, un visage rond avec un pont nasal déprimé, une petite bouche, une petite taille, une peau relativement foncée et des anomalies dermatoglyphiques typiques, ainsi qu'une déficience intellectuelle."},"de":{"name":"Kongenitaler Herzfehler-rundes Gesicht-Entwicklungsverzögerung-Syndrom","synonyms":["Sonoda-Syndrom"],"definition":"Ein sehr seltenes Syndrom, das bei drei Geschwistern einer japanischen Familie beschrieben wurde und durch angeborene Herzfehler, ein rundes Gesicht mit flachem Nasenrücken, einen kleinen Mund, Kleinwuchs, eine relativ dunkle Haut und typische dermatoglyphische Anomalien sowie ein intellektuelles Defizit gekennzeichnet ist."},"es":{"name":"Síndrome congénito de cardiopatía-cara redonda-retraso del desarrollo","synonyms":["Síndrome de Sonoda"],"definition":"Es un síndrome muy poco frecuente, descrito en tres hermanos de una familia japonesa, que se caracteriza por una cardiopatía congénita, cara redonda con una depresión del puente nasal, boca pequeña, talla baja, piel relativamente oscura, anomalías dermatoglíficas típicas, y discapacidad intelectual."},"it":{"name":"Cardiopatia - faccia rotonda - ritardo congenito dello sviluppo","definition":"La sindrome cardiopatia - faccia tonda - ritardo congenito dello sviluppo è molto rara; è stata descritta in tre fratelli di una famiglia giapponese ed è caratterizzata da cardiopatia congenita, faccia tonda con sella nasale depressa, bocca piccola, bassa statura, cute relativamente scura, tipiche anomalie dei dermatoglifi e deficit cognitivo."},"nl":{"name":"Congenitaal hartdefect - rond aangezicht - ontwikkelingsachterstand-syndroom","synonyms":["Syndroom van Sonoda"],"definition":"Een zeer zeldzaam syndroom, beschreven bij drie broers/zussen van één Japanse familie, en gekenmerkt door congenitale hartziekte, rond aangezicht met ingezakte neusbrug, kleine mond, kleine gestalte, relatief donkere huid, kenmerkende anomalieën van dermatoglyfen, en intellectuele achterstand."},"pt":{"name":"Síndrome de cardiopatia-face redonda-perturbação do desenvolvimento congénita","synonyms":["Síndrome Sonoda"]},"pl":{"name":"Wada serca - okrągła twarz - opóźnienie rozwoju","synonyms":["Zespół Sonoda"]},"cs":{"name":"Syndrom zahrnující vrozenou srdeční vadu, kulatý obličej a opoždění vývoje","synonyms":["Sonodův syndrom"]},"uk":{"name":"Синдром вродженої вади серця - круглого обличчя - затримки розвитку","synonyms":["Синдром Сонода"],"definition":"A very rare syndrome described in three sibs of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit."},"zh":{"name":"先天性心脏缺陷-圆脸-发育迟缓综合征","synonyms":["Sonoda综合征"]},"tr":{"name":"Doğumsal kalp defekti yuvarlak yüz-gelişme geriliği sendromu","synonyms":["Sonoda sendromu"]}},"xrefs":[{"source":"OMIM","code":"270460","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010039","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536680","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796162","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4905","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"3225826[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_3225826[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007477","label":"Abnormal dermatoglyphics","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000163","label":"Abnormal oral cavity morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000457","label":"Depressed nasal ridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007440","label":"Generalized hyperpigmentation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005599","label":"Hypopigmentation of hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000160","label":"Narrow mouth","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000311","label":"Round face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Frequent (79-30%)","criteria":null}]}}