{"orpha":3316,"name":"Thomas syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Potter sequence-cleft lip/palate-cardiopathy syndrome"],"definition":"Thomas syndrome is characterised by renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3316/","orphanet_url":"https://www.orpha.net/en/disease/detail/3316","names":{"fr":{"name":"Syndrome de Thomas","synonyms":["Syndrome de séquence de Potter-fente-cardiopathie"],"definition":"Le syndrome de Thomas se caractérise par une anomalie rénale, des malformations cardiaques et une fente labiale ou palatine. Ce syndrome a été décrit chez 6 cas et une transmission autosomique récessive est suggérée."},"de":{"name":"Thomas-Syndrom","synonyms":["Syndrom der Potter-Sequenz mit Lippen- oder Gaumenspalte und Kardiopathie"],"definition":"Merkmale des Thomas-Syndroms sind Nierenanomalien, Herzfehler und Lippen- oder Gaumenspalte."},"es":{"name":"Síndrome de Thomas","synonyms":["Secuencia de Potter-fisura-cardiopatía"],"definition":"Es un síndrome caracterizado por anomalías renales, malformaciones cardíacas y fisura labial o palatina. Se ha descrito en seis pacientes y se ha sugerido que sigue un patrón de herencia autosómico recesivo."},"it":{"name":"Sindrome di Thomas","synonyms":["Sequenza di Potter - schisi - cardiopatia"]},"nl":{"name":"Syndroom van Thomas","synonyms":["Potter-sequentie - gespleten lip/gehemelte - cardiopathie-syndroom"],"definition":"Een syndroom, gekenmerkt door anomalieën van nier, malformaties van hart, en gespleten lip of gehemelte. Syndroom van Thomas werd beschreven bij zes patiënten. Transmissie gebeurt vermoedelijk autosomaal recessief."},"pt":{"name":"Síndrome Thomas","synonyms":["Síndrome de sequência de Potter-fenda labio-palatina-cardiopatia"]},"pl":{"name":"Zespół Thomasa","synonyms":["Sekwencja Pottera - rozszczep wargi/podniebienia - kardiopatia"]},"cs":{"name":"Thomasův syndrom","synonyms":["Syndrom zahrnující sekvenci Potterové, rozštěp rtu/patra a kardiopatii"]},"uk":{"name":"Синдром Томаса","synonyms":["Синдром послідовності Поттера - щілина губи/піднебіння-кардіопатія"],"definition":"Thomas syndrome is characterised by renal anomalies, cardiac malformations and cleft lip or palate. It has been described in six patients. Transmission was suggested to be autosomal recessive."},"zh":{"name":"托马斯综合征","synonyms":["Potter序列-唇腭裂-心脏病综合征"]},"tr":{"name":"Thomas sendromu","synonyms":["Potter dizisi-yarık dudak/damak-kardiyopati sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A00.1Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1467584080"},{"source":"MONDO","code":"0018043","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536514","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931225","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5175","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":156532,"name":"Rare syndrome with cardiac malformations","classifications":[147,148,156]},{"orpha":93547,"name":"Syndromic renal or urinary tract malformation","classifications":[147,156,188,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":6.0,"area":"Worldwide","status":"Validated","source":"8456859[PMID]_8882777[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8456859[PMID]_8882777[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:0000175","label":"Cleft palate","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000204","label":"Cleft upper lip","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000003","label":"Multicystic kidney dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008678","label":"Renal hypoplasia/aplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000494","label":"Downslanted palpebral fissures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000348","label":"High forehead","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004383","label":"Hypoplastic left heart","frequency":"Frequent (79-30%)","criteria":null}]}}