{"orpha":2075,"name":"Genitopalatocardiac syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Gardner-Silengo-Wachtel syndrome"],"definition":"A rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2075/","orphanet_url":"https://www.orpha.net/en/disease/detail/2075","names":{"fr":{"name":"Syndrome génito-palato-cardiaque","synonyms":["Syndrome de Gardner-Silengo-Wachtel"],"definition":"Anomalies congénitales multiples/syndrome dysmorphique rare caractérisé par une dysgénésie gonadique 46,XY masculine, une fente palatine, une micrognathie, des malformations cardiaques conotroncales et des anomalies squelettiques, cérébrales et rénales non spécifiques."},"de":{"name":"Genito-palato-kardiales Syndrom","synonyms":["Gardner-Silengo-Wachtel-Syndrom"]},"es":{"name":"Síndrome génito-palato-cardíaco","synonyms":["Síndrome de Gardner-Silengo-Wachtel"],"definition":"El síndrome genito-palato-cardíaco es un síndrome dismórfico / por anomalías congénitas múltiples poco frecuente caracterizado por disgenesia gonadal masculina, 46, XY, paladar hendido, micrognacia, defectos cardíacos conotruncales y anomalías esqueléticas, cerebrales y renales inespecíficas."},"it":{"name":"Sindrome genito-palato-cardiaca","synonyms":["Sindrome di Gardner-Silengo-Wachtel"],"definition":"La sindrome genito-palato-cardiaca è una malattia rara da anomalie/dismorfismi congeniti multipli, caratterizzata da disgenesia gonadica maschile 46,XY, palatoschisi, micrognazia, cardiopatie troncoconali ed anomalie scheletriche, cerebrali e renali aspecifiche."},"nl":{"name":"Genitopalatocardiaal syndroom","synonyms":["Syndroom van Gardner-Silengo-Wachtel"],"definition":"Genito-palato-cardiaal syndroom is een zeldzaam meervoudige congenitale anomalieën/dysmorfie-syndroom dat gekarakteriseerd wordt door mannelijke, 46,XY gonadale dysgenesie, gespleten verhemelte, micrognathie, conotruncale hartdefecten en niet-specifieke anomalieën van het skelet, de hersenen en de nieren."},"pt":{"name":"Síndrome genito-palato-cardíaco","synonyms":["Síndrome Gardner-Silengo-Wachtel"]},"pl":{"name":"Zespół płciowo-podniebienno-sercowy","synonyms":["Zespół Gardnera, Silengo i Wachtela"]},"cs":{"name":"Genitopalatokardiální syndrom","synonyms":["Gardnerův-Silengův-Wachtelův syndrom","Gardner-Silengo-Wachtelův syndrom"]},"uk":{"name":"Генітопалатокардіальний синдром","synonyms":["Синдром Гарднера-Сіленго-Вахтеля"],"definition":"A rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies."},"zh":{"name":"Genitopalatocardiac综合征","synonyms":["Gardner-Silengo-Wachtel综合征"]},"tr":{"name":"Genitopalatokardiyak sendrom","synonyms":["Gardner-Silengo-Wachtel sendromu"]}},"xrefs":[{"source":"OMIM","code":"231060","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.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2011995320"},{"source":"MONDO","code":"0009270","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537683","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1856466","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2460","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":139039,"name":"Orofacial clefting syndrome","classifications":[147,156,200,209]},{"orpha":98087,"name":"Syndrome with 46,XY difference of sex development","classifications":[147,156,185,193]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":15.0,"area":"Worldwide","status":"Validated","source":"19283856[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_19283856[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001671","label":"Abnormal cardiac septum morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000037","label":"Male pseudohermaphroditism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100335","label":"Non-midline cleft of the upper lip","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008668","label":"Gonadal dysgenesis, male","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100016","label":"Abnormality of mesentery morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005264","label":"Abnormality of the gallbladder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001156","label":"Brachydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000776","label":"Congenital diaphragmatic hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002714","label":"Downturned corners of mouth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000003","label":"Multicystic kidney dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001162","label":"Postaxial hand polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000431","label":"Wide nasal bridge","frequency":"Occasional (29-5%)","criteria":null}]}}